Q9NUM4
PR
Gene name |
TMEM106B |
Protein name |
Transmembrane protein 106B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54664 |
EC number |
|
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
23 structures for Q9NUM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7QVC | EM | 264 A | A/B/C | 120-254 | PDB |
| 7QVF | EM | 364 A | A/B/C/D/E/F | 120-254 | PDB |
| 7QWG | EM | 338 A | A/B/C | 120-254 | PDB |
| 7QWL | EM | 347 A | A/B/C | 120-254 | PDB |
| 7QWM | EM | 276 A | A/B/C | 120-254 | PDB |
| 7SAQ | EM | 290 A | A/B/C/D/E | 120-254 | PDB |
| 7SAR | EM | 320 A | A/B/C/D/E/F/G/H/I/J | 120-254 | PDB |
| 7SAS | EM | 370 A | A/B/C/D/E/F/G/H/I/J | 120-254 | PDB |
| 7TMC | EM | 325 A | A/B/C | 1-274 | PDB |
| 7U10 | EM | 300 A | A/B/C | 120-254 | PDB |
| 7U11 | EM | 320 A | A/B/C | 120-254 | PDB |
| 7U12 | EM | 350 A | A/B/C | 120-254 | PDB |
| 7U13 | EM | 290 A | A/B/C | 120-254 | PDB |
| 7U14 | EM | 450 A | A/B/C | 120-254 | PDB |
| 7U15 | EM | 300 A | A/B/C | 120-254 | PDB |
| 7U16 | EM | 270 A | A/B/C | 120-254 | PDB |
| 7U17 | EM | 300 A | A/B/C | 120-254 | PDB |
| 7U18 | EM | 270 A | A/B/C | 120-254 | PDB |
| 7X83 | EM | 340 A | A/B/C | 1-274 | PDB |
| 7X84 | EM | 300 A | A/B/C | 120-254 | PDB |
| 8B7D | X-ray | 259 A | A | 118-274 | PDB |
| 8F9K | EM | 340 A | A/B/C/D/E/F | 1-274 | PDB |
| AF-Q9NUM4-F1 | Predicted | AlphaFoldDB |
195 variants for Q9NUM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1781655491 RCV001329069 |
19 | D>H | Leukodystrophy, hypomyelinating, 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263188 rs770339502 |
39 | D>H | Vascular dementia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554310600 RCV000626490 VAR_081068 RCV001561829 CA366858893 |
252 | D>N | Leukodystrophy, hypomyelinating, 16 Variant assessed as Somatic; impact. HLD16 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs765967370 CA4164957 |
2 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759581407 CA4164959 |
4 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4164958 rs753691062 |
4 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4164960 rs765000589 |
5 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366853487 rs1225566454 |
9 | P>R | No |
ClinGen TOPMed |
|
|
rs1363954184 CA366853508 |
12 | S>L | No |
ClinGen TOPMed |
|
|
rs781422597 CA4164963 |
13 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA366853529 rs1303102485 |
15 | E>G | No |
ClinGen TOPMed |
|
|
CA366853533 rs1338738117 |
16 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA153940266 rs887707895 |
20 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 20 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750466775 CA4164964 |
21 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780222783 CA4164966 |
23 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA366853590 rs1283609269 |
24 | E>D | No |
ClinGen gnomAD |
|
|
CA4164967 rs749745812 |
24 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA366853598 rs769300025 |
25 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366853599 rs1014945897 |
26 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA153940283 rs1014945897 |
26 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs138655153 CA4164969 |
28 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366853626 rs1189190416 |
29 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1583449971 CA366853635 |
31 | V>A | No |
ClinGen Ensembl |
|
|
CA4164970 rs748555916 |
31 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469297238 CA366853638 |
32 | N>D | No |
ClinGen gnomAD |
|
|
CA153940294 rs1002943854 |
32 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771804126 CA4164971 |
33 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482431314 CA366853670 |
36 | H>R | No |
ClinGen TOPMed |
|
|
rs760419159 CA4164973 |
37 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366853677 rs1209172951 |
37 | N>I | No |
ClinGen TOPMed |
|
|
CA4164974 rs770339502 |
39 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143448984 CA4164975 RCV000911181 |
39 | D>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759330785 CA4164976 |
40 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153940310 rs931671256 |
40 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4164977 rs765162104 |
42 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs137861973 CA4164979 |
43 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240802205 CA366853736 |
46 | S>F | No |
ClinGen gnomAD |
|
|
CA4164980 rs763925906 |
47 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201732402 CA366853743 |
47 | Q>H | No |
ClinGen gnomAD |
|
|
CA4164983 rs766313087 |
52 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4164984 rs753958862 |
55 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440642183 CA366853798 |
56 | R>G | No |
ClinGen gnomAD |
|
|
rs1193564382 CA366853801 |
56 | R>I | No |
ClinGen gnomAD |
|
|
CA4164985 rs755503836 |
57 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA366853831 rs1173289008 |
60 | T>I | No |
ClinGen gnomAD |
|
|
CA4164987 rs748717314 |
61 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366853842 rs1333541509 |
62 | P>H | No |
ClinGen gnomAD |
|
|
rs1366256266 CA366853854 |
64 | C>Y | No |
ClinGen TOPMed |
|
|
CA366853874 rs1562702324 |
67 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366853909 rs1422211236 |
72 | R>S | No |
ClinGen TOPMed |
|
|
rs923630119 CA153940385 |
72 | R>W | No |
ClinGen Ensembl |
|
|
CA4165020 rs776964900 |
73 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4164988 rs758808510 |
73 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA366853993 rs765398796 |
77 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763299613 CA4165024 |
86 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA153942887 rs1007788600 |
86 | D>N | No |
ClinGen Ensembl |
|
|
CA4165025 rs764690908 |
90 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA366854097 rs1312800509 |
93 | R>K | No |
ClinGen gnomAD |
|
|
CA4165055 rs372285953 |
96 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281627734 CA366855102 |
98 | V>E | No |
ClinGen TOPMed |
|
|
rs1366784152 CA366855099 |
98 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001312105 rs1781850865 |
100 | A>V | No |
ClinVar dbSNP |
|
|
rs886319946 CA153947144 |
104 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs886319946 CA366855141 |
104 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777649392 CA4165059 |
108 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746834929 CA4165060 |
110 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583454600 CA366855198 |
113 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366855203 rs749514895 |
114 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4165063 rs749514895 |
114 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201043315 CA4165065 |
115 | F>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1290092339 CA366855214 |
116 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs768042858 CA4165067 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA366855232 rs1386206715 |
119 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs145982632 CA4165069 |
119 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366855247 rs1362541599 |
121 | I>T | No |
ClinGen gnomAD |
|
|
rs1157321295 COSM3949848 CA366855244 |
121 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753522100 COSM1084859 CA4165071 |
122 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4165073 rs764742401 |
123 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421174513 CA832514479 |
125 | Y>* | No |
ClinGen TOPMed |
|
|
CA4165076 rs777878619 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA153947233 rs746849121 |
126 | I>V | No |
ClinGen Ensembl |
|
|
rs141539006 CA4165078 |
128 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4165079 rs150868186 |
129 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139421888 CA4165080 |
132 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4165081 rs768774025 |
132 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA366855313 rs139421888 |
132 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147889591 CA4165082 |
134 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748197777 CA4165083 |
136 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366855351 rs1177153868 |
137 | V>I | No |
ClinGen gnomAD |
|
|
CA4165084 rs748332927 |
138 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4165085 rs773675736 |
138 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA153947280 rs1054331541 |
139 | K>* | No |
ClinGen Ensembl |
|
|
CA366855382 rs1554309396 |
139 | K>M | No |
ClinGen Ensembl |
|
|
CA4165086 rs761236016 COSM1267990 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4165087 rs147247575 |
140 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4165089 rs759157913 |
141 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4165090 rs764833206 |
142 | I>T | No |
ClinGen ExAC |
|
|
rs752205974 CA4165091 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA366856828 rs1449340038 |
148 | N>K | No |
ClinGen gnomAD |
|
|
CA4165113 rs763685448 |
148 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4165114 rs751129449 |
150 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs761775508 CA4165115 |
151 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4165116 rs767377477 |
152 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4165117 rs750422580 |
154 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200294788 CA366856897 |
155 | N>S | No |
ClinGen gnomAD |
|
|
CA153951650 rs1019261634 |
157 | Y>C | No |
ClinGen TOPMed |
|
|
CA366856923 rs1019261634 |
157 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4165119 rs375896018 |
159 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4165120 rs375896018 |
159 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374586453 CA366856948 |
160 | V>I | No |
ClinGen gnomAD |
|
|
rs1374586453 CA366856953 |
160 | V>L | No |
ClinGen gnomAD |
|
|
rs1583457543 CA366856975 |
161 | E>D | No |
ClinGen Ensembl |
|
|
rs1252821877 CA366856966 |
161 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 166 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366857057 rs1162418602 |
168 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303264243 CA366857164 |
179 | A>T | No |
ClinGen gnomAD |
|
|
rs1487160006 CA366857172 |
179 | A>V | No |
ClinGen TOPMed |
|
|
rs768078337 CA4165125 |
180 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4165126 rs746430474 |
180 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4165128 rs775983188 |
181 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4165127 rs770051632 |
181 | L>I | No |
ClinGen ExAC |
|
|
rs374577371 CA4165130 |
182 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762637597 CA4165129 |
182 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4165131 rs147912881 |
184 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147912881 CA153951759 |
184 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366857226 rs3173615 |
185 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_026849 CA4165132 rs3173615 |
185 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4165133 rs377719816 |
187 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 190 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366857308 rs1487309421 |
191 | D>V | No |
ClinGen gnomAD |
|
|
CA366857327 rs1188352454 |
192 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4165151 rs769191545 |
198 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769191545 CA4165150 |
198 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4165153 rs771468165 |
200 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241056455 CA366857678 |
201 | T>P | No |
ClinGen gnomAD |
|
|
CA4165156 rs202102292 |
202 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255360370 CA366857713 |
203 | I>V | No |
ClinGen Ensembl |
|
|
rs776358184 CA4165157 |
205 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379680956 CA366857731 |
205 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA153952530 rs1029344810 |
208 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765061839 CA4165159 |
210 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233456553 CA366857936 |
212 | D>H | No |
ClinGen gnomAD |
|
|
CA153953122 rs896808715 |
216 | L>V | No |
ClinGen Ensembl |
|
|
CA366858007 rs1562709540 |
218 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA153953132 rs938990242 |
223 | N>S | No |
ClinGen Ensembl |
|
|
rs757934804 CA4165194 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196717160 CA366858092 |
226 | L>I | No |
ClinGen gnomAD |
|
|
CA366858111 rs1480577746 |
227 | M>T | No |
ClinGen gnomAD |
|
|
CA366858126 rs1192399143 |
228 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366858124 rs1192399143 |
228 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA153953150 rs771841162 |
228 | M>V | No |
ClinGen Ensembl |
|
|
rs1006112233 CA153953171 |
229 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366858572 rs1310524318 |
234 | T>I | No |
ClinGen TOPMed |
|
|
CA366858606 rs1243702180 |
237 | F>I | No |
ClinGen gnomAD |
|
|
CA366858608 rs1243702180 |
237 | F>L | No |
ClinGen gnomAD |
|
|
CA4165218 rs780617800 |
237 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA366858638 rs1360063818 |
238 | G>A | No |
ClinGen gnomAD |
|
|
rs969040562 CA153953740 |
238 | G>S | No |
ClinGen Ensembl |
|
|
rs1237264670 CA366858721 |
242 | Q>L | No |
ClinGen gnomAD |
|
|
rs780019619 CA4165222 |
243 | I>T | No |
ClinGen ExAC |
|
|
rs1460309401 CA366858750 |
244 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 250 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4165227 rs771307286 |
253 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774355891 CA153953787 |
255 | R>G | No |
ClinGen Ensembl |
|
|
CA4165228 rs776800783 |
255 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759662664 CA4165229 |
258 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765269149 CA4165230 |
258 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | T>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366859033 rs1346029935 |
260 | Q>H | No |
ClinGen TOPMed |
|
|
CA4165232 rs763431685 |
260 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA153953842 rs1037133993 |
261 | L>M | No |
ClinGen TOPMed |
|
|
CA366859046 rs1399866980 |
262 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 262 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238177205 CA366859103 |
263 | Q>R | No |
ClinGen gnomAD |
|
|
CA4165233 rs764463455 |
266 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366859233 rs1224003459 |
271 | Q>* | No |
ClinGen gnomAD |
|
|
CA4165235 rs756864630 |
271 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366859279 rs1268929503 |
273 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320938810 CA366859294 |
274 | Q>R | No |
ClinGen TOPMed gnomAD |
4 associated diseases with Q9NUM4
[MIM: 607485]: Ubiquitin-positive frontotemporal dementia (UP-FTD)
Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. {ECO:0000269|PubMed:20154673, ECO:0000269|PubMed:21178100, ECO:0000269|PubMed:22895706, ECO:0000269|PubMed:23742080}. Note=The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers
[MIM: 105550]: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1)
An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269|PubMed:24385136, ECO:0000269|PubMed:24442578, ECO:0000303|PubMed:24488309}. Note=The gene represented in this entry acts as a disease modifier.
[MIM: 617964]: Leukodystrophy, hypomyelinating, 16 (HLD16)
An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. {ECO:0000269|PubMed:29186371, ECO:0000269|PubMed:29444210}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. {ECO:0000269|PubMed:20154673, ECO:0000269|PubMed:21178100, ECO:0000269|PubMed:22895706, ECO:0000269|PubMed:23742080}. Note=The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers
- An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269|PubMed:24385136, ECO:0000269|PubMed:24442578, ECO:0000303|PubMed:24488309}. Note=The gene represented in this entry acts as a disease modifier.
- An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. {ECO:0000269|PubMed:29186371, ECO:0000269|PubMed:29444210}. Note=The disease may be caused by variants affecting the gene represented in this entry.
No regional properties for Q9NUM4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NUM4 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| lysosomal lumen acidification | Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
| lysosomal protein catabolic process | Any cellular protein catabolic process that takes place in a lysosome. |
| lysosomal transport | The directed movement of substances into, out of or within a lysosome. |
| lysosome localization | Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| neuron cellular homeostasis | The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. |
| positive regulation of dendrite development | Any process that activates or increases the frequency, rate or extent of dendrite development. |
| positive regulation of hydrolase activity | Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. |
| regulation of lysosome organization | Any process that modulates the frequency, rate or extent of lysosome organization. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q80X71 | Tmem106b | Transmembrane protein 106B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKSLSHLPL | HSSKEDAYDG | VTSENMRNGL | VNSEVHNEDG | RNGDVSQFPY | VEFTGRDSVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CPTCQGTGRI | PRGQENQLVA | LIPYSDQRLR | PRRTKLYVMA | SVFVCLLLSG | LAVFFLFPRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDVKYIGVKS | AYVSYDVQKR | TIYLNITNTL | NITNNNYYSV | EVENITAQVQ | FSKTVIGKAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LNNITIIGPL | DMKQIDYTVP | TVIAEEMSYM | YDFCTLISIK | VHNIVLMMQV | TVTTTYFGHS |
| 250 | 260 | 270 | |||
| EQISQERYQY | VDCGRNTTYQ | LGQSEYLNVL | QPQQ |