Q9UJ37
PR
Gene name |
ST6GALNAC2 (SIAT7B, SIATL1, STHM) |
Protein name |
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
Names |
GalNAc alpha-2,6-sialyltransferase II, ST6GalNAc II, ST6GalNAcII, SThM, Sialyltransferase 7B, SIAT7-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10610 |
EC number |
2.4.3.3: Sialyltransferases |
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
3 structures for Q9UJ37
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6APJ | X-ray | 310 A | A/B/C/D/E/F | 1-374 | PDB |
| 6APL | X-ray | 235 A | A/B/C/D/E/F | 1-374 | PDB |
| AF-Q9UJ37-F1 | Predicted | AlphaFoldDB |
340 variants for Q9UJ37
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA401173645 rs1460413502 |
3 | L>R | No |
ClinGen TOPMed |
|
|
rs148525024 CA8788705 |
4 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8788706 rs148525024 |
4 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401173636 rs868827611 |
5 | R>H | No |
ClinGen gnomAD |
|
|
rs868827611 CA294194058 |
5 | R>L | No |
ClinGen gnomAD |
|
|
rs866358411 CA294194055 |
6 | G>W | No |
ClinGen Ensembl |
|
|
CA294194041 rs868671135 |
10 | W>L | No |
ClinGen Ensembl |
|
|
rs747225128 CA8788703 CA401173608 |
10 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA294194037 rs866920120 |
11 | L>M | No |
ClinGen Ensembl |
|
|
rs758415513 CA8788700 |
16 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294194024 rs867596083 |
16 | T>M | No |
ClinGen gnomAD |
|
|
rs750478524 CA8788699 |
17 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs866644211 CA294194015 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA294194008 rs867647297 |
19 | C>F | No |
ClinGen Ensembl |
|
|
rs1470124858 CA401173550 |
20 | S>W | No |
ClinGen TOPMed |
|
|
CA8788696 rs757748981 |
21 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788695 rs754219461 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754219461 CA401173542 |
22 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs899079348 CA294193995 |
25 | A>S | No |
ClinGen TOPMed |
|
|
rs1251109954 CA401173520 |
25 | A>V | No |
ClinGen gnomAD |
|
|
CA294193989 rs1055189662 |
26 | L>P | No |
ClinGen Ensembl |
|
|
rs760972335 CA401173519 |
26 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401173511 rs1267922150 |
27 | Y>C | No |
ClinGen gnomAD |
|
|
CA401173510 rs1267922150 |
27 | Y>S | No |
ClinGen gnomAD |
|
|
CA294193987 rs1022871254 |
28 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1298735547 CA401173500 |
29 | S>A | No |
ClinGen gnomAD |
|
|
rs1218191773 CA401173491 |
30 | A>E | No |
ClinGen gnomAD |
|
|
rs1218191773 CA401173489 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs1362061862 CA401173488 |
31 | V>M | No |
ClinGen gnomAD |
|
|
CA8788692 rs751216276 |
32 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432849471 CA401173472 |
33 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401173473 rs1432849471 |
33 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs942047880 CA401173463 |
34 | Y>* | No |
ClinGen gnomAD |
|
|
CA8788691 rs561224155 |
35 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1284933849 CA401173432 |
40 | G>R | No |
ClinGen gnomAD |
|
|
CA8788669 rs762636472 |
43 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765997911 CA8788670 |
43 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA401173387 rs749969505 |
45 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8788668 rs749969505 |
45 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs532184943 CA294191757 |
48 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs760117347 CA294191755 |
53 | S>P | No |
ClinGen Ensembl |
|
|
CA8788666 rs377185240 |
54 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1179585633 CA401173322 |
55 | A>T | No |
ClinGen gnomAD |
|
|
rs1370685202 CA401173315 |
56 | S>A | No |
ClinGen TOPMed |
|
|
rs1269011676 CA401173311 |
56 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1487488759 CA401173290 |
59 | W>C | No |
ClinGen gnomAD |
|
|
rs775391431 CA8788662 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8788640 rs771008131 |
66 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773245960 CA8788638 |
67 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401191078 rs1187767949 |
68 | H>Q | No |
ClinGen gnomAD |
|
|
rs1246080703 CA401191083 |
68 | H>Y | No |
ClinGen gnomAD |
|
|
CA401191061 rs1567930841 |
70 | L>F | No |
ClinGen Ensembl |
|
|
CA401191043 rs1264705314 |
71 | H>Q | No |
ClinGen gnomAD |
|
|
rs1295440663 CA401191028 |
73 | A>D | No |
ClinGen TOPMed |
|
|
CA8788636 rs748640738 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM460203 CA8788634 rs755378563 |
75 | Q>* | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM984731 rs756951441 CA8788631 |
76 | R>Q | endometrium Variant assessed as Somatic; 9.301e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778653466 CA8788632 |
76 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1164391556 CA401190981 |
78 | P>L | No |
ClinGen gnomAD |
|
|
rs753463254 CA8788630 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8788628 rs137991970 |
79 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401190978 rs1200166987 |
79 | H>Y | No |
ClinGen TOPMed |
|
|
CA401190972 rs1336516930 |
80 | F>L | No |
ClinGen gnomAD |
|
|
CA8788627 rs752681859 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767316340 CA8788626 |
81 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs555579172 CA8788625 |
82 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401190960 rs555579172 |
82 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8788623 rs766625983 |
83 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8788621 rs72869501 |
84 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769875443 CA8788620 |
85 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788619 rs748160205 |
87 | S>F | No |
ClinGen ExAC |
|
|
CA401190911 rs1185079678 |
90 | V>E | No |
ClinGen gnomAD |
|
|
CA401190896 rs199742333 |
93 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8788614 rs199742333 |
93 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8788615 rs768999066 |
93 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8788613 rs199742333 |
93 | W>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777496450 CA401190891 |
94 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8788611 rs548481942 CA8788612 COSM1386237 |
94 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8788610 rs777496450 |
94 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA294232232 rs752099031 |
95 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401190888 rs1228356533 |
95 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8788609 rs755713295 |
95 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs781239304 CA401190865 |
98 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781239304 CA8788607 |
98 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138609545 CA8788606 |
100 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401190852 rs1329101640 |
101 | L>V | No |
ClinGen gnomAD |
|
|
rs1598253669 CA401190835 |
103 | D>A | No |
ClinGen Ensembl |
|
|
rs762678708 CA401190832 |
103 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149022507 CA8788601 |
104 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776553153 CA8788599 COSM1227685 |
104 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776553153 CA8788600 |
104 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs149022507 CA8788602 |
104 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137908385 CA8788597 |
106 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8788595 rs772565134 |
107 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401190803 rs141875733 |
108 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8788592 rs369770868 |
109 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450635927 CA401190792 |
110 | A>T | No |
ClinGen TOPMed |
|
|
rs147926486 CA8788590 |
111 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567930609 CA401190786 |
111 | P>S | No |
ClinGen Ensembl |
|
|
CA8788587 rs751466654 |
112 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054442685 CA294232150 |
114 | W>* | No |
ClinGen Ensembl |
|
|
CA8788586 rs779900113 |
115 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144854134 CA8788585 |
115 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401190754 rs1459389930 |
116 | G>V | No |
ClinGen TOPMed |
|
|
CA8788582 rs761911942 |
118 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8788581 rs111460202 |
119 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367883248 CA8788580 |
119 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321524643 CA401190734 |
120 | Q>K | No |
ClinGen gnomAD |
|
|
rs1404629390 CA401190732 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA8788564 rs757016209 |
122 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294231464 rs138357790 |
123 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1386236 CA8788563 rs138357790 |
123 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 123 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764334582 CA8788562 |
125 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1247726580 CA401190686 |
126 | L>P | No |
ClinGen gnomAD |
|
|
rs375079849 CA8788560 |
131 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8788559 rs768176332 |
134 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA401190631 rs1329913333 |
135 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401190626 rs1432733511 |
135 | A>V | No |
ClinGen gnomAD |
|
|
rs1303168647 CA401190604 |
139 | A>T | No |
ClinGen gnomAD |
|
|
COSM230342 CA8788556 rs774912802 |
140 | P>L | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1449055625 CA401190596 |
140 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA294231410 rs925400255 |
142 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8788554 rs371095497 |
144 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202152231 CA8788553 |
144 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371095497 CA401190573 |
144 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768307376 CA8788552 |
145 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs865803374 CA401190552 CA294231398 |
147 | K>N | No |
ClinGen gnomAD |
|
|
CA401190550 rs1369720943 |
148 | C>R | No |
ClinGen gnomAD |
|
|
CA294231395 rs1013517228 |
148 | C>Y | No |
ClinGen gnomAD |
|
|
CA401190541 rs1173969091 |
149 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8788550 rs553938843 |
150 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8788551 rs199938169 |
150 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772068368 CA8788549 |
152 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778839685 CA8788547 |
153 | V>M | Variant assessed as Somatic; 9.505e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8788545 rs749059341 |
155 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA401190497 rs756326725 CA8788543 |
157 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788542 rs752889620 |
159 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401190480 rs1280586678 |
160 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401190463 rs1458466960 |
162 | G>E | No |
ClinGen TOPMed |
|
|
rs141454499 CA294231328 |
164 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8788540 rs568934935 |
164 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788541 rs141454499 |
164 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8788539 rs752116994 |
165 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA401190439 rs1166016317 |
167 | P>S | No |
ClinGen gnomAD |
|
|
rs1425915314 CA401190424 |
169 | I>V | No |
ClinGen gnomAD |
|
|
CA401190412 rs1472689077 |
170 | D>E | No |
ClinGen gnomAD |
|
|
rs1180924464 CA401190418 |
170 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1598251762 CA401190401 |
172 | H>R | No |
ClinGen Ensembl |
|
|
rs763696309 CA8788535 |
172 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777897138 CA294231278 |
174 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA294231272 rs993274360 |
177 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769714948 CA8788507 |
179 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8788508 rs772964799 |
179 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788509 rs772964799 |
179 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747913348 CA8788506 |
180 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs372908238 CA8788505 |
182 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401189955 rs1350159097 |
184 | K>E | No |
ClinGen gnomAD |
|
|
CA294230893 rs903075700 |
185 | G>A | No |
ClinGen gnomAD |
|
|
rs903075700 CA401189936 |
185 | G>D | No |
ClinGen gnomAD |
|
|
CA294230858 rs909312612 |
187 | E>A | No |
ClinGen TOPMed |
|
|
rs368536427 CA294230865 |
187 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA401189902 rs1436388081 |
188 | R>C | No |
ClinGen gnomAD |
|
|
rs61740217 CA8788501 |
188 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371906556 CA8788499 |
189 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401189858 rs1304146405 |
191 | G>D | No |
ClinGen gnomAD |
|
|
CA8788497 rs139444908 |
192 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401189830 rs1393899799 |
193 | K>N | No |
ClinGen gnomAD |
|
|
rs1169151583 CA401189823 |
194 | T>I | No |
ClinGen gnomAD |
|
|
CA401189811 rs1451212968 |
195 | S>F | No |
ClinGen gnomAD |
|
|
COSM3958783 CA401189796 rs1441068376 |
196 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs374084501 CA8788496 |
197 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754619753 CA8788495 |
199 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs751086325 CA8788494 |
200 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401189737 rs1482324200 |
201 | V>G | No |
ClinGen gnomAD |
|
|
rs1202307607 CA401189742 |
201 | V>L | No |
ClinGen gnomAD |
|
|
rs773233116 COSM1610817 CA8788490 |
203 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761750935 CA8788488 |
204 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401189665 rs1567929362 |
206 | N>K | No |
ClinGen Ensembl |
|
|
CA8788487 rs776537665 |
206 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8788485 rs201613931 |
209 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242833083 CA401189606 |
211 | Y>C | No |
ClinGen gnomAD |
|
|
CA294230777 rs775157150 |
212 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs775157150 CA401189589 |
212 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs775521700 CA8788484 |
212 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1026967844 CA294230771 |
215 | G>R | No |
ClinGen TOPMed |
|
|
CA8788482 rs745884042 |
216 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1598250634 CA401189537 |
217 | T>P | No |
ClinGen Ensembl |
|
|
CA401189519 rs1369920512 |
218 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs146236613 CA8788481 |
219 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759934050 CA294230765 |
221 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759934050 CA8788480 |
221 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401189467 rs1205920895 |
223 | Q>* | No |
ClinGen gnomAD |
|
|
CA401189296 rs1567928178 |
224 | D>N | No |
ClinGen Ensembl |
|
|
CA294229057 rs371463271 |
226 | Q>R | No |
ClinGen Ensembl |
|
|
CA8788459 rs375265107 |
227 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294229041 rs182712414 |
227 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA8788457 rs779806874 |
228 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458984063 CA401189246 |
231 | P>H | No |
ClinGen gnomAD |
|
|
CA401189247 rs1160191206 |
231 | P>S | No |
ClinGen gnomAD |
|
|
CA8788456 rs757957362 |
232 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA294228988 rs201143304 |
234 | I>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8788455 rs750023165 |
235 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788454 rs778556001 |
235 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778556001 CA401189221 |
235 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA401189222 rs778556001 |
235 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs763902940 CA401189220 |
236 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3691846 rs763902940 CA8788451 |
236 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA401189201 rs1314712922 |
238 | V>A | No |
ClinGen gnomAD |
|
|
rs370872274 CA8788449 |
242 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401189170 rs1019652532 |
243 | A>D | No |
ClinGen TOPMed |
|
|
CA294228917 rs1019652532 |
243 | A>V | No |
ClinGen TOPMed |
|
|
rs1347110678 CA401189163 |
244 | I>S | No |
ClinGen gnomAD |
|
|
rs1347110678 CA401189164 |
244 | I>T | No |
ClinGen gnomAD |
|
|
CA294228910 rs1003035073 |
245 | L>R | No |
ClinGen Ensembl |
|
|
CA401189154 rs1233391395 |
246 | G>D | No |
ClinGen gnomAD |
|
|
rs1598247724 CA401189157 |
246 | G>S | No |
ClinGen Ensembl |
|
|
rs549674932 CA8788445 |
247 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8788444 rs762979715 |
249 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773730617 CA8788443 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA401189117 rs1415093994 |
252 | G>V | No |
ClinGen gnomAD |
|
|
rs1172318150 CA401189099 |
255 | K>R | No |
ClinGen gnomAD |
|
|
rs781407051 CA8788440 |
256 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369165048 CA294228848 |
257 | D>E | No |
ClinGen ESP gnomAD |
|
|
rs758368754 CA294228855 |
257 | D>N | No |
ClinGen Ensembl |
|
|
rs1241143622 CA401189082 |
258 | R>K | No |
ClinGen gnomAD |
|
|
CA401188892 rs1598244050 |
259 | P>Q | No |
ClinGen Ensembl |
|
|
rs1439845178 CA401188895 |
259 | P>S | No |
ClinGen TOPMed |
|
|
CA401188875 rs1450393896 |
260 | H>Q | No |
ClinGen gnomAD |
|
|
rs113464897 CA8788376 |
261 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401188855 rs1203553010 |
262 | Y>C | No |
ClinGen gnomAD |
|
|
CA294227469 rs1005600926 |
266 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747651810 CA8788375 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8788374 rs776105334 |
268 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8788373 rs768646261 |
269 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150523896 CA8788371 |
271 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8788368 rs147972239 |
277 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8788369 rs745633213 |
277 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401188619 rs1169044040 |
281 | S>G | No |
ClinGen gnomAD |
|
|
rs753281782 CA8788363 |
283 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs942877168 CA294227391 |
284 | T>I | No |
ClinGen Ensembl |
|
|
CA294227390 rs915353937 |
285 | E>D | No |
ClinGen Ensembl |
|
|
CA294227389 rs959460022 |
286 | R>T | No |
ClinGen TOPMed |
|
|
CA294226129 rs868787657 |
287 | F>L | No |
ClinGen Ensembl |
|
|
rs781777112 CA8788344 |
289 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755497273 CA8788343 |
289 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA401188423 rs751935503 CA8788342 |
290 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA8788341 rs200117442 |
291 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753508965 CA8788340 |
292 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765388230 CA294226063 |
294 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 301 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567925820 CA401188291 |
301 | Y>H | No |
ClinGen Ensembl |
|
|
CA8788338 rs763693330 |
302 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396332785 CA401188277 |
302 | M>V | No |
ClinGen gnomAD |
|
|
rs1460026903 CA401188248 |
304 | S>N | No |
ClinGen gnomAD |
|
|
rs551933129 CA8788337 |
306 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs959811624 CA294226019 |
307 | A>D | No |
ClinGen Ensembl |
|
|
rs1033821217 CA294225984 |
308 | L>V | No |
ClinGen Ensembl |
|
|
CA294225979 rs1009875910 |
309 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401188197 rs1207215579 |
309 | M>V | No |
ClinGen TOPMed |
|
|
rs774954247 CA8788336 |
311 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771974773 CA8788335 |
315 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788332 rs201476012 |
318 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788333 rs201476012 |
318 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773610483 CA8788330 |
319 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs749054317 CA8788331 |
319 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA401187508 rs1187933184 |
320 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401187495 rs1371314580 |
321 | S>N | No |
ClinGen TOPMed |
|
|
CA8788296 rs369082805 |
323 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401187471 rs1210455631 |
324 | G>A | No |
ClinGen gnomAD |
|
|
CA401187474 rs1327160018 |
324 | G>R | No |
ClinGen TOPMed |
|
|
CA401187464 rs1463189654 |
325 | F>C | No |
ClinGen gnomAD |
|
|
CA8788295 rs751012221 |
326 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA401187458 rs1209984770 |
326 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1130154 CA401187452 rs1598238934 |
327 | T>I | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1307887208 CA401187448 |
328 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401187443 rs1266868790 |
328 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401187445 rs1274794536 |
328 | S>T | No |
ClinGen gnomAD |
|
|
rs141836475 CA8788294 |
332 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8788293 rs762978952 |
333 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA294224623 rs749742258 |
333 | F>V | No |
ClinGen Ensembl |
|
|
CA294224610 rs200450600 |
335 | D>G | No |
ClinGen 1000Genomes |
|
|
CA401187397 rs373585653 |
335 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373585653 CA8788291 |
335 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294224606 rs979861499 |
336 | H>D | No |
ClinGen TOPMed |
|
|
rs761650586 CA8788290 |
336 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310133612 CA401187379 |
337 | Y>* | No |
ClinGen gnomAD |
|
|
rs776940931 CA401187371 |
338 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401187372 rs1271903613 |
338 | F>S | No |
ClinGen TOPMed |
|
|
rs768727013 CA8788288 COSM984730 |
339 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8788286 rs369820531 |
340 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139401613 CA8788285 |
340 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746392150 CA8788283 |
342 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1475903320 CA401187339 |
343 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1567924569 CA401187333 |
344 | P>S | No |
ClinGen Ensembl |
|
|
rs779347933 CA8788282 |
345 | L>F | No |
ClinGen ExAC |
|
| TCGA novel | 346 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749588247 CA8788279 |
346 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962311527 CA294224523 |
346 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749588247 CA8788280 |
346 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395979783 CA401187318 |
347 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1480903920 CA401187310 |
348 | Y>H | No |
ClinGen gnomAD |
|
|
COSM3362378 rs1234438014 CA401187303 |
349 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs549538193 CA401187282 |
351 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415268811 CA401187285 |
351 | H>R | No |
ClinGen TOPMed |
|
|
CA401187280 rs1257684716 |
352 | D>A | No |
ClinGen gnomAD |
|
|
CA8788277 rs375190261 |
352 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294224516 rs375190261 |
352 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294224491 rs764426682 |
354 | S>C | No |
ClinGen TOPMed |
|
|
CA401187266 rs764426682 |
354 | S>F | No |
ClinGen TOPMed |
|
|
rs1327648047 CA401187269 |
354 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008879829 CA294224488 |
358 | A>V | No |
ClinGen TOPMed |
|
|
rs1395999183 CA401187237 |
359 | L>R | No |
ClinGen gnomAD |
|
|
CA8788273 rs371790525 |
361 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369524670 CA8788272 |
362 | D>H | No |
ClinGen ESP ExAC |
|
|
CA294224465 rs904452213 |
364 | H>N | No |
ClinGen TOPMed |
|
|
CA294224456 rs375165759 |
365 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA8788270 rs761706825 |
366 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA401187189 rs764432426 |
367 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996221825 CA294224450 |
367 | G>D | No |
ClinGen Ensembl |
|
|
CA401187190 rs764432426 |
367 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8788268 rs764432426 |
367 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760799245 CA8788267 |
368 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191043380 CA401187185 |
368 | I>V | No |
ClinGen TOPMed |
|
|
CA8788265 rs199771999 |
370 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA294224438 rs199771999 |
370 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA294224433 rs1040808024 |
371 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8788264 rs757469107 |
372 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214580966 CA401187155 |
373 | Q>* | No |
ClinGen gnomAD |
|
|
CA8788262 rs146749688 |
374 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401187149 rs146749688 |
374 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142493154 CA8788261 |
374 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142493154 CA401187146 |
374 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8788259 rs200352266 |
375 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401187144 rs1331234432 |
375 | R>R | No |
ClinGen TOPMed |
No associated diseases with Q9UJ37
No regional properties for Q9UJ37
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UJ37 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.3.3 | Sialyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity | Catalysis of the reaction: CMP-N-acetylneuraminate + glycano-(1->3)-(N-acetyl-alpha-D-galactosaminyl)-glycoprotein = CMP + glycano-[(2->6)-alpha-N-acetylneuraminyl]-(N-acetyl-D-galactosaminyl)-glycoprotein. |
| sialyltransferase activity | Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| protein sialylation | A protein modification process that results in the addition of a sialic acid unit to the end of an oligosaccharide chain in a glycoprotein. |
| viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92182 | ST6GAL1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Gallus gallus (Chicken) | PR |
| Q701R0 | ST6GAL2 | Beta-galactoside alpha-2,6-sialyltransferase 2 | Gallus gallus (Chicken) | PR |
| Q92184 | ST6GALNAC2 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Gallus gallus (Chicken) | PR |
| P15907 | ST6GAL1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Homo sapiens (Human) | PR |
| Q96JF0 | ST6GAL2 | Beta-galactoside alpha-2,6-sialyltransferase 2 | Homo sapiens (Human) | PR |
| Q9BVH7 | ST6GALNAC5 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 | Homo sapiens (Human) | PR |
| Q64685 | St6gal1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Mus musculus (Mouse) | PR |
| Q9QYJ1 | St6galnac5 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 | Mus musculus (Mouse) | PR |
| P70277 | St6galnac2 | Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Mus musculus (Mouse) | PR |
| P13721 | St6gal1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q9SGD2 | GALT29A | Beta-1,6-galactosyltransferase GALT29A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLPRGSFFW | LLLLLTAACS | GLLFALYFSA | VQRYPGPAAG | ARDTTSFEAF | FQSKASNSWT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKGQACRHLL | HLAIQRHPHF | RGLFNLSIPV | LLWGDLFTPA | LWDRLSQHKA | PYGWRGLSHQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIASTLSLLN | GSESAKLFAP | PRDTPPKCIR | CAVVGNGGIL | NGSRQGPNID | AHDYVFRLNG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVIKGFERDV | GTKTSFYGFT | VNTMKNSLVS | YWNLGFTSVP | QGQDLQYIFI | PSDIRDYVML |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSAILGVPVP | EGLDKGDRPH | AYFGPEASAS | KFKLLHPDFI | SYLTERFLKS | KLINTHFGDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YMPSTGALML | LTALHTCDQV | SAYGFITSNY | WKFSDHYFER | KMKPLIFYAN | HDLSLEAALW |
| 370 | |||||
| RDLHKAGILQ | LYQR |