Q10469
PR
Gene name |
MGAT2 |
Protein name |
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
Names |
Beta-1,2-N-acetylglucosaminyltransferase II, GlcNAc-T II, GNT-II, Mannoside acetylglucosaminyltransferase 2, N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4247 |
EC number |
2.4.1.143: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q10469
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5VCM | X-ray | 160 A | A/B | 29-447 | PDB |
| 5VCR | X-ray | 199 A | A/B | 29-447 | PDB |
| 5VCS | X-ray | 280 A | A/B | 29-447 | PDB |
| AF-Q10469-F1 | Predicted | AlphaFoldDB |
385 variants for Q10469
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001113567 rs1882838721 |
5 | I>M | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371950590 CA7172459 RCV000791890 |
23 | V>A | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1310787426 RCV000754823 CA389617256 |
31 | Q>* | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000864413 RCV002515496 RCV000202676 CA248876 RCV001722114 rs140584714 |
33 | K>N | MGAT2-congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7172475 rs201411811 RCV001248201 |
49 | G>D | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7172489 rs376612891 RCV001316599 |
69 | N>S | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000872131 rs145684106 CA7172496 |
77 | P>S | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7172499 rs138365004 RCV000695206 RCV002532283 |
78 | A>T | MGAT2-congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003163267 CA7172500 rs749248027 RCV001114973 |
78 | A>V | MGAT2-congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7172506 RCV000809353 rs527933593 |
84 | A>S | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs767110185 CA7172513 RCV001350336 |
92 | R>L | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001114974 rs1882852150 |
101 | D>V | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1882853347 RCV001335934 |
109 | K>N | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751276217 RCV001330924 CA7172562 |
170 | C>Y | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389619314 rs1327830771 RCV000785908 |
171 | P>T | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1318755521 RCV001109334 CA389619494 |
197 | P>H | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555327096 CA389619912 RCV000636242 |
230 | T>P | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA249931 RCV000023200 RCV000162128 rs730882218 |
237 | K>N | MGAT2-congenital disorder of glycosylation Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000080007 rs117536357 RCV000765165 CA221941 |
245 | V>L | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000754822 rs1566504935 |
252 | A>missing | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147353945 RCV001109335 CA7172597 |
255 | I>T | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA254037 RCV000007406 rs104894447 VAR_003415 |
262 | H>R | MGAT2-congenital disorder of glycosylation CDG2A; strongly reduced protein levels; loss of enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1566505007 RCV000785909 CA389620501 |
266 | P>L | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000754824 CA389620508 rs1566505013 |
267 | D>H | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802628 CA7172606 rs201673817 |
284 | P>S | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389620796 RCV000689519 rs1455410429 |
288 | V>I | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA389620810 rs1173622190 RCV001109336 |
289 | L>H | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA254036 RCV000007405 VAR_003416 rs104894446 |
290 | S>F | MGAT2-congenital disorder of glycosylation CDG2A; strongly reduced protein levels; loss of enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104894448 VAR_012343 RCV000007407 CA254038 |
318 | N>D | MGAT2-congenital disorder of glycosylation CDG2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs78391102 CA7172626 RCV000343016 |
324 | T>S | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
CA254039 rs104894449 RCV000007408 |
339 | C>* | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776531113 RCV000754821 CA7172641 |
374 | H>Y | MGAT2-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389617077 rs1449178585 |
2 | R>K | No |
ClinGen gnomAD |
|
|
rs1449178585 CA389617079 |
2 | R>M | No |
ClinGen gnomAD |
|
|
CA389617088 rs1191491144 |
3 | F>L | No |
ClinGen gnomAD |
|
|
rs759861152 CA7172449 |
4 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759861152 CA389617094 |
4 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767473693 CA7172450 |
6 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA389617134 rs1159137865 |
10 | V>G | No |
ClinGen gnomAD |
|
|
CA7172451 rs752864013 |
10 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172453 rs764636535 |
11 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs202099464 CA260660428 |
12 | I>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1233103991 CA389617153 |
14 | T>M | No |
ClinGen Ensembl |
|
|
rs754400133 CA7172454 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1246596402 CA389617162 |
16 | V>L | No |
ClinGen TOPMed |
|
|
rs1353506273 CA389617169 |
17 | V>M | No |
ClinGen gnomAD |
|
|
CA260660434 rs867673622 |
18 | A>V | No |
ClinGen Ensembl |
|
|
rs1470087519 CA389617191 |
20 | C>W | No |
ClinGen TOPMed |
|
|
CA389617205 rs758108747 |
22 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660448 rs1026054084 |
23 | V>I | No |
ClinGen Ensembl |
|
|
rs746475824 CA7172460 |
24 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA389617220 rs1285930205 |
25 | W>L | No |
ClinGen TOPMed |
|
|
rs1023249434 CA260660458 |
27 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs568281032 CA389617235 |
27 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7172461 rs568281032 |
27 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568281032 CA389617234 |
27 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776484694 CA7172462 |
28 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs970310623 CA260660464 |
28 | N>S | No |
ClinGen Ensembl |
|
|
rs769466934 CA7172464 |
30 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773112279 CA7172465 |
32 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660482 rs925948647 |
36 | A>D | No |
ClinGen gnomAD |
|
|
CA7172469 rs764331974 |
37 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213488531 CA389617304 |
38 | A>G | No |
ClinGen gnomAD |
|
|
CA389617302 rs956032109 |
38 | A>S | No |
ClinGen gnomAD |
|
|
CA260660487 rs956032109 |
38 | A>T | No |
ClinGen gnomAD |
|
|
CA260660491 rs989340728 |
39 | P>L | No |
ClinGen Ensembl |
|
|
rs754383709 CA7172470 |
40 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754383709 CA389617315 |
40 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765486694 CA7172472 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389617359 rs1424608568 |
47 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 47 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395625055 CA389617364 |
48 | R>L | No |
ClinGen gnomAD |
|
|
rs750758203 CA7172473 |
48 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1174798031 CA389617366 |
49 | G>C | No |
ClinGen TOPMed |
|
|
rs1394195929 CA389617374 |
50 | A>G | No |
ClinGen gnomAD |
|
|
rs1394195929 CA389617375 |
50 | A>V | No |
ClinGen gnomAD |
|
|
rs751218190 CA7172476 |
51 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA389617384 rs780742658 |
52 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780742658 CA7172478 |
52 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200691404 CA7172479 |
53 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199575160 CA7172480 |
54 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs910363472 CA260660511 |
55 | G>R | No |
ClinGen Ensembl |
|
|
CA7172481 rs777605581 |
56 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775847223 CA7172484 |
58 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660517 rs770633838 |
58 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770633838 CA7172483 |
58 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776889364 CA7172487 |
62 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA389617439 rs1479420404 |
62 | V>L | No |
ClinGen gnomAD |
|
|
CA389617437 rs1479420404 |
62 | V>M | No |
ClinGen gnomAD |
|
|
CA389617458 rs1191642939 |
65 | R>H | No |
ClinGen gnomAD |
|
|
rs1197173090 CA389617455 |
65 | R>S | No |
ClinGen gnomAD |
|
|
rs1431027658 CA389617472 |
67 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1039828943 CA260660523 |
68 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7172492 rs763312296 |
71 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290831141 CA389617503 |
73 | A>T | No |
ClinGen TOPMed |
|
|
CA389617526 rs1383140017 |
76 | V>A | No |
ClinGen gnomAD |
|
|
rs1367424820 CA389617524 |
76 | V>F | No |
ClinGen gnomAD |
|
|
rs372538664 CA7172497 |
77 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372538664 CA389617530 |
77 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7172501 rs562118173 |
79 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7172502 rs778901269 |
80 | P>A | No |
ClinGen ExAC |
|
|
CA7172503 rs149562481 |
80 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7172504 rs149562481 |
80 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777013801 CA7172505 |
81 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1259354557 CA389617557 |
83 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs376840642 CA7172507 |
84 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7172508 rs143240738 |
85 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212339825 CA389617590 |
86 | N>S | No |
ClinGen TOPMed |
|
|
CA389617612 rs918814159 |
88 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA260660558 rs918814159 |
88 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs189024052 CA7172510 |
89 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389617624 rs1454724371 |
90 | R>W | No |
ClinGen gnomAD |
|
|
rs759928068 CA7172512 |
91 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA260660563 rs930238523 |
93 | S>F | No |
ClinGen TOPMed |
|
|
CA260660576 rs1033257537 |
101 | D>Y | No |
ClinGen Ensembl |
|
|
CA389617800 rs1462999384 |
103 | T>P | No |
ClinGen TOPMed |
|
|
CA7172515 rs755642838 |
104 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7172516 rs763566510 |
105 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7172518 rs147502375 |
105 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7172519 rs779024279 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7172521 rs778151500 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389617871 rs1476271337 |
108 | D>H | No |
ClinGen gnomAD |
|
|
CA7172522 rs781499653 |
110 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389617899 rs781499653 |
110 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781499653 CA389617901 |
110 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1030046949 CA260660605 |
112 | T>A | No |
ClinGen gnomAD |
|
|
rs769904884 CA389617928 |
112 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769904884 CA389617930 |
112 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7172524 rs769904884 |
112 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343867206 CA389617939 |
113 | W>G | No |
ClinGen gnomAD |
|
|
rs1343867206 CA389617937 |
113 | W>R | No |
ClinGen gnomAD |
|
|
rs773214147 CA7172527 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA389617985 rs1376904088 |
115 | P>R | No |
ClinGen gnomAD |
|
|
rs748791502 RCV001008547 |
116 | R>missing | No |
ClinVar dbSNP |
|
| rs748791502 | 116 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172529 rs771391737 |
116 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7172528 rs749618473 |
116 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1594599277 CA389617997 |
117 | E>G | No |
ClinGen Ensembl |
|
|
CA260660616 rs771450465 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771450465 CA7172530 |
117 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA389618029 rs1594599282 |
119 | V>G | No |
ClinGen Ensembl |
|
|
CA389618037 rs1250501599 |
120 | L>V | No |
ClinGen TOPMed |
|
|
rs1594599286 CA389618064 |
121 | V>G | No |
ClinGen Ensembl |
|
|
rs1594599292 CA389618072 |
122 | V>G | No |
ClinGen Ensembl |
|
|
CA389618077 rs1304782259 |
123 | Q>R | No |
ClinGen gnomAD |
|
|
CA389618098 rs1594599296 |
124 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 124 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260660625 rs370159190 |
128 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1282145042 CA389618190 |
129 | E>K | No |
ClinGen gnomAD |
|
|
CA389618217 rs1486789253 |
130 | Y>* | No |
ClinGen gnomAD |
|
|
rs1208252580 CA389618826 |
131 | L>R | No |
ClinGen gnomAD |
|
|
rs377539042 CA7172537 |
133 | L>P | No |
ClinGen ESP ExAC |
|
|
rs377539042 CA260660631 |
133 | L>R | No |
ClinGen ESP ExAC |
|
|
rs144027281 CA7172536 |
133 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389618864 rs1566504554 |
135 | L>P | No |
ClinGen Ensembl |
|
|
rs750393097 CA7172540 |
136 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1220494791 CA7172541 |
136 | D>V | No |
ClinGen TOPMed |
|
|
rs371043542 CA7172543 |
137 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389618902 rs1274013067 |
139 | R>G | No |
ClinGen TOPMed |
|
|
rs780053775 CA7172544 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7172545 rs748380419 |
142 | Q>E | No |
ClinGen ExAC |
|
|
rs1333061086 CA389618958 |
143 | G>V | No |
ClinGen gnomAD |
|
|
rs756335200 CA7172546 |
146 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778091454 CA7172547 |
146 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660659 rs999372554 |
148 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA389619016 rs999372554 |
148 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7172549 rs771013920 |
149 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7172552 rs746429053 |
153 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172551 rs746429053 |
153 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA260660664 rs1047406441 |
153 | H>Y | No |
ClinGen Ensembl |
|
|
rs1594599385 CA389619102 |
154 | D>E | No |
ClinGen Ensembl |
|
|
rs775752968 CA7172553 |
154 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs761132325 CA7172554 |
155 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660671 rs761132325 |
155 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260660676 rs762127794 |
156 | W>L | No |
ClinGen gnomAD |
|
|
rs1376102094 CA389619141 |
157 | S>L | No |
ClinGen TOPMed |
|
|
rs1194783446 CA389619163 |
159 | E>G | No |
ClinGen gnomAD |
|
|
CA389619159 rs1292318934 |
159 | E>K | No |
ClinGen TOPMed |
|
|
CA7172557 rs761339721 |
161 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457689514 CA389619199 |
162 | Q>K | No |
ClinGen TOPMed |
|
|
CA7172558 rs531491182 |
163 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389619224 rs1419806515 |
164 | I>V | No |
ClinGen gnomAD |
|
|
CA389619257 rs1166629472 |
166 | G>A | No |
ClinGen TOPMed |
|
|
CA7172561 rs763033849 |
166 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7172560 rs763033849 |
166 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1398892073 CA389619264 |
167 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260660696 rs949785228 |
171 | P>R | No |
ClinGen Ensembl |
|
|
rs777802047 CA7172564 |
172 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs754827977 CA7172563 |
172 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs142040736 CA7172565 |
173 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA260660703 rs1012044822 |
176 | F>V | No |
ClinGen TOPMed |
|
|
CA389619361 rs757312452 |
177 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172567 rs779010502 |
180 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA389619383 rs1417355426 |
181 | I>V | No |
ClinGen TOPMed |
|
|
CA7172568 rs746339246 |
182 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172570 CA389619394 rs780633686 |
182 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172569 rs772527368 |
182 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA389619401 rs1420403170 |
183 | L>F | No |
ClinGen gnomAD |
|
|
CA389619404 rs1198604618 |
184 | Y>D | No |
ClinGen gnomAD |
|
|
CA389619403 rs1198604618 |
184 | Y>H | No |
ClinGen gnomAD |
|
|
rs1215786109 CA389619411 |
185 | P>A | No |
ClinGen TOPMed |
|
|
rs747277668 CA7172571 |
185 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769067977 CA7172572 |
186 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191016497 CA389619447 |
190 | G>D | No |
ClinGen gnomAD |
|
|
CA7172573 rs776145169 |
191 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371632448 CA7172574 |
191 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371632448 CA389619452 |
191 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772890040 CA7172576 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389619468 rs772890040 |
193 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172577 rs762586491 |
197 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA389619496 rs1318755521 |
197 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1318755521 CA389619495 |
197 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389619497 rs1346724903 |
198 | R>G | No |
ClinGen gnomAD |
|
|
CA389619507 rs1594599526 |
199 | D>A | No |
ClinGen Ensembl |
|
|
rs766182287 CA7172578 |
199 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7172580 rs759189395 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767401239 CA7172581 |
202 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389619547 rs1354903229 |
204 | A>V | No |
ClinGen gnomAD |
|
|
CA260660736 rs768198938 |
206 | L>V | No |
ClinGen Ensembl |
|
|
rs1285439729 CA389619593 |
209 | G>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 211 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172584 rs779133498 |
212 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 215 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389619704 rs1475291091 |
216 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747616287 CA7172588 |
219 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7172591 rs781658846 |
221 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389619822 rs1555327091 |
224 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 225 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389619852 rs1415584595 |
226 | K>T | No |
ClinGen gnomAD |
|
|
CA260660759 rs202213300 |
228 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389619910 rs1365889988 |
229 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389619905 rs1338743307 |
229 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389619952 rs1244785204 |
232 | H>R | No |
ClinGen gnomAD |
|
|
CA260660763 rs1029619851 |
233 | H>R | No |
ClinGen Ensembl |
|
|
CA389620043 rs1280634383 |
237 | K>* | No |
ClinGen gnomAD |
|
|
CA7172592 rs747772260 |
238 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA389620090 rs1594599608 |
239 | H>Y | No |
ClinGen Ensembl |
|
|
rs955339719 CA260660767 |
241 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 242 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769390057 CA260660768 |
244 | R>G | No |
ClinGen Ensembl |
|
|
CA7172594 rs117536357 COSM3931942 |
245 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000579032 rs1555327099 CA389620264 |
249 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1371429192 CA389620267 |
249 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770481388 CA7172595 |
251 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570183956 CA7172596 |
252 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570183956 CA389620315 |
252 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1349155664 CA389620338 |
254 | L>F | No |
ClinGen TOPMed |
|
|
rs767183240 CA7172598 |
255 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7172599 rs775221699 |
256 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395406724 CA389620391 |
258 | L>R | No |
ClinGen gnomAD |
|
|
CA389620385 rs1157862443 |
258 | L>V | No |
ClinGen gnomAD |
|
|
rs1435614170 CA389620395 |
259 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389620415 rs1318543605 |
260 | E>A | No |
ClinGen TOPMed |
|
|
CA389620435 rs1400230698 |
261 | D>V | No |
ClinGen gnomAD |
|
|
rs1383624299 CA389620453 |
262 | H>Q | No |
ClinGen TOPMed |
|
|
CA389620463 rs1395539609 |
263 | Y>C | No |
ClinGen gnomAD |
|
|
rs34028489 CA260660788 |
265 | A>S | No |
ClinGen Ensembl |
|
|
rs1329543814 CA389620492 |
265 | A>V | No |
ClinGen gnomAD |
|
|
CA389620518 rs1445145022 |
267 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181491339 CA7172603 |
269 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389620604 rs1301685255 |
273 | K>R | No |
ClinGen TOPMed |
|
|
rs201540992 CA7172604 |
275 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1434819081 CA389620634 |
275 | M>T | No |
ClinGen TOPMed |
|
|
CA389620655 rs1253874409 |
276 | W>* | No |
ClinGen gnomAD |
|
|
rs920396388 CA260660795 |
276 | W>G | No |
ClinGen Ensembl |
|
|
CA389620674 rs1243185255 |
278 | L>M | No |
ClinGen gnomAD |
|
|
CA389620679 rs1343777867 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs1243185255 CA389620676 |
278 | L>V | No |
ClinGen gnomAD |
|
|
CA7172605 rs762705435 |
280 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1456405069 CA389620705 |
281 | Q>H | No |
ClinGen gnomAD |
|
|
rs950684011 CA260660801 |
281 | Q>R | No |
ClinGen gnomAD |
|
|
CA260660804 rs983735733 |
283 | C>Y | No |
ClinGen Ensembl |
|
|
CA7172607 rs201673817 |
284 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756565123 CA7172610 |
292 | G>R | No |
ClinGen ExAC |
|
|
CA7172611 rs777502631 |
294 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749038839 CA7172612 |
296 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770321474 CA7172613 |
296 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA260660817 rs1044207291 |
297 | S>G | No |
ClinGen Ensembl |
|
|
rs1330183883 CA389620928 |
299 | S>N | No |
ClinGen gnomAD |
|
|
CA389620941 rs1227641577 |
300 | F>Y | No |
ClinGen gnomAD |
|
|
rs771993659 CA7172616 |
301 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775418672 CA7172617 |
302 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA389620969 rs1210192308 |
302 | G>C | No |
ClinGen TOPMed |
|
|
rs760396043 CA389620977 |
303 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172618 rs760396043 |
303 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA389620999 rs1189278775 |
305 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7172620 rs773407945 |
309 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs947523462 CA260660827 |
311 | T>I | No |
ClinGen TOPMed |
|
|
rs1194134773 CA389621064 |
312 | W>R | No |
ClinGen gnomAD |
|
|
CA260660831 rs751648485 |
316 | E>Q | No |
ClinGen Ensembl |
|
|
rs1481406873 CA389621141 |
317 | H>R | No |
ClinGen gnomAD |
|
|
rs1042207763 CA389621156 |
318 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7172623 rs1042207763 |
318 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389621192 rs1338279859 |
320 | G>D | No |
ClinGen TOPMed |
|
|
rs201794061 CA260660840 |
321 | L>P | No |
ClinGen 1000Genomes |
|
|
CA260660843 rs766141161 |
322 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 323 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390438043 CA389621270 |
326 | N>K | No |
ClinGen gnomAD |
|
|
CA260660851 rs148680997 |
328 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372274787 CA7172628 |
330 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7172630 rs753265640 |
335 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293321151 CA389621342 |
335 | T>R | No |
ClinGen gnomAD |
|
|
rs768879640 RCV000731976 |
336 | D>missing | No |
ClinVar dbSNP |
|
|
rs1219252013 CA389621354 |
337 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306088667 CA389621369 |
339 | C>G | No |
ClinGen TOPMed |
|
|
rs1165349794 CA389621379 |
340 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1165349794 CA389621377 |
340 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs111486860 CA260660860 |
341 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA614273683 rs1264678157 |
341 | Y>* | No |
ClinGen gnomAD |
|
|
rs1486071213 CA389621384 |
341 | Y>C | No |
ClinGen gnomAD |
|
|
rs1486071213 CA389621385 |
341 | Y>F | No |
ClinGen gnomAD |
|
|
CA389621455 rs1456218323 |
350 | L>P | No |
ClinGen TOPMed |
|
|
rs1366898158 CA389621462 |
351 | Q>P | No |
ClinGen TOPMed |
|
|
rs748857947 CA7172633 |
352 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs201365237 CA7172634 |
355 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389621486 rs1193081342 |
355 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201381314 CA260660873 |
356 | S>P | No |
ClinGen 1000Genomes |
|
|
CA260660876 rs578121417 |
359 | P>R | No |
ClinGen 1000Genomes |
|
|
rs200321871 CA7172635 |
360 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389621527 rs1368311313 |
361 | F>L | No |
ClinGen gnomAD |
|
|
CA389621535 COSM3401329 rs1454642029 |
362 | W>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 363 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201703013 CA7172637 |
366 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA389621557 rs201703013 |
366 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs369433027 CA7172638 |
368 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA260660887 rs891918393 |
369 | I>V | No |
ClinGen Ensembl |
|
|
CA389621583 rs1313005437 |
370 | P>S | No |
ClinGen gnomAD |
|
|
rs1380665330 CA389621594 |
372 | I>L | No |
ClinGen gnomAD |
|
|
rs768418844 CA7172640 |
372 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA260660893 rs868087717 |
375 | A>T | No |
ClinGen Ensembl |
|
|
CA389621654 CA389621656 rs1197878118 |
380 | M>I | No |
ClinGen TOPMed |
|
|
CA389621667 rs1272120436 |
382 | H>Y | No |
ClinGen TOPMed |
|
|
CA389621689 rs1594599973 |
385 | T>P | No |
ClinGen Ensembl |
|
|
CA7172643 rs199732373 CA7172642 |
387 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA260660898 rs1051276902 |
388 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7172644 rs200461712 |
389 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759598046 CA7172645 |
391 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs767775001 CA7172646 |
392 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172647 rs774335811 |
395 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389621784 rs1180130118 |
399 | L>F | No |
ClinGen gnomAD |
|
|
rs1420162573 CA389621788 |
400 | N>S | No |
ClinGen gnomAD |
|
|
rs373822224 CA7172648 |
400 | N>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764726477 CA7172649 |
401 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006830352 CA260660912 |
406 | M>L | No |
ClinGen TOPMed |
|
|
rs757572881 CA7172652 |
411 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs146764245 CA389621873 |
412 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146764245 CA7172656 |
412 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs776720499 | 412 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260660931 rs962841787 |
412 | T>S | No |
ClinGen Ensembl |
|
|
CA7172658 rs140337098 |
413 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566505501 CA389621884 |
414 | S>N | No |
ClinGen Ensembl |
|
|
CA260660940 rs950572878 |
415 | E>D | No |
ClinGen gnomAD |
|
|
rs1239781633 CA389621928 |
420 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7172659 rs781015590 |
420 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747920154 CA7172661 |
421 | A>T | No |
ClinGen ExAC |
|
|
rs1314093762 CA389621950 |
424 | P>Q | No |
ClinGen gnomAD |
|
|
CA7172662 rs769483436 |
425 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236926817 CA389621987 CA389621988 |
430 | G>R | No |
ClinGen gnomAD |
|
|
CA389622020 rs1222666786 |
434 | I>T | No |
ClinGen TOPMed |
|
|
CA260660954 rs772260019 |
435 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7172665 rs772260019 |
435 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA389622032 rs1236419059 |
436 | D>N | No |
ClinGen gnomAD |
|
|
CA7172667 rs3007039 |
438 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389622147 rs1426838163 |
443 | Y>C | No |
ClinGen gnomAD |
|
|
rs1426838163 CA389622148 |
443 | Y>F | No |
ClinGen gnomAD |
|
|
CA7172669 rs754301705 |
444 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs979777755 CA260660967 |
444 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 445 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172671 rs762231765 |
446 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7172670 rs762231765 |
446 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA389622188 rs1243717741 |
447 | Q>K | No |
ClinGen gnomAD |
No associated diseases with Q10469
No regional properties for Q10469
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q10469 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.143 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| Golgi stack | The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + alpha-D-mannosyl-1,6-(N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,3)-beta-D-mannosyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,6-(N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,3)-beta-D-mannosyl-R. |
| manganese ion binding | Binding to a manganese ion (Mn). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| oligosaccharide biosynthetic process | The chemical reactions and pathways resulting in the formation of oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. |
| protein N-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. |
| protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
| viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q921V5 | Mgat2 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mus musculus (Mouse) | PR |
| O19071 | MGAT2 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sus scrofa (Pig) | PR |
| Q09326 | Mgat2 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRFRIYKRKV | LILTLVVAAC | GFVLWSSNGR | QRKNEALAPP | LLDAEPARGA | GGRGGDHPSV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVGIRRVSNV | SAASLVPAVP | QPEADNLTLR | YRSLVYQLNF | DQTLRNVDKA | GTWAPRELVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VVQVHNRPEY | LRLLLDSLRK | AQGIDNVLVI | FSHDFWSTEI | NQLIAGVNFC | PVLQVFFPFS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IQLYPNEFPG | SDPRDCPRDL | PKNAALKLGC | INAEYPDSFG | HYREAKFSQT | KHHWWWKLHF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VWERVKILRD | YAGLILFLEE | DHYLAPDFYH | VFKKMWKLKQ | QECPECDVLS | LGTYSASRSF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YGMADKVDVK | TWKSTEHNMG | LALTRNAYQK | LIECTDTFCT | YDDYNWDWTL | QYLTVSCLPK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FWKVLVPQIP | RIFHAGDCGM | HHKKTCRPST | QSAQIESLLN | NNKQYMFPET | LTISEKFTVV |
| 430 | 440 | ||||
| AISPPRKNGG | WGDIRDHELC | KSYRRLQ |