B4DJY2
Gene name |
TMEM233 (IFITMD2) |
Protein name |
Transmembrane protein 233 |
Names |
Dispanin subfamily B member 2, DSPB2, Interferon-induced transmembrane domain-containing protein D2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:387890 |
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
1 structures for B4DJY2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-B4DJY2-F1 | Predicted | AlphaFoldDB |
83 variants for B4DJY2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386619680 rs1406985619 |
3 | Q>* | No |
ClinGen TOPMed |
|
|
CA244913455 rs1032889199 |
4 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1032889199 CA386619687 |
4 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1456213913 CA386619696 |
5 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1456213913 CA386619698 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1302397010 CA386619706 |
7 | S>G | No |
ClinGen gnomAD |
|
|
rs901687720 CA244913460 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386619716 rs901687720 |
8 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1566092124 CA386619713 |
8 | P>T | No |
ClinGen Ensembl |
|
|
rs995907695 CA244913462 |
10 | F>V | No |
ClinGen Ensembl |
|
|
CA386619753 rs1224493114 |
13 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6820251 rs569870460 |
14 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244913467 rs754725095 |
16 | S>N | No |
ClinGen Ensembl |
|
|
rs1011239751 CA244913469 |
16 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386619774 rs1566092206 |
17 | S>C | No |
ClinGen Ensembl |
|
|
rs1293027535 CA386619785 |
18 | P>H | No |
ClinGen gnomAD |
|
|
CA244913472 rs761699810 |
19 | E>V | No |
ClinGen Ensembl |
|
|
rs374408351 CA244913474 |
20 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1593267955 CA386619805 |
21 | N>S | No |
ClinGen Ensembl |
|
|
rs765504106 CA6820253 |
24 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386619830 rs1409715505 |
25 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1442467814 CA386619847 |
27 | T>P | No |
ClinGen gnomAD |
|
|
rs1426428935 CA386619854 |
28 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1385677168 CA386619853 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1306128934 CA386619866 |
29 | E>D | No |
ClinGen gnomAD |
|
|
rs1346351087 CA386619859 |
29 | E>K | No |
ClinGen TOPMed |
|
|
rs1353951298 CA386619867 |
30 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6820256 rs565388773 |
32 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1260115039 CA386619892 |
33 | M>I | No |
ClinGen gnomAD |
|
|
rs1452256421 CA386619905 |
35 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA386619907 rs1289308676 |
35 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA386619901 rs1377228454 |
35 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386619906 rs1452256421 |
35 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs974301483 CA244913485 |
37 | Y>H | No |
ClinGen TOPMed |
|
|
CA6820257 rs751543382 |
39 | W>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6820259 rs781018057 |
43 | V>G | No |
ClinGen ExAC |
|
|
CA6820258 rs754912477 |
43 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272941642 CA386619976 |
46 | F>V | No |
ClinGen gnomAD |
|
|
CA244913489 rs920158806 |
48 | P>A | No |
ClinGen TOPMed |
|
|
CA244913491 rs930173935 |
49 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386620014 rs1234171348 |
52 | I>V | No |
ClinGen gnomAD |
|
|
CA386620025 rs1431738926 |
53 | N>S | No |
ClinGen TOPMed |
|
|
rs902749982 CA244913495 |
55 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6820272 rs762977471 |
69 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386522395 rs1408568252 |
70 | G>E | No |
ClinGen gnomAD |
|
|
CA6820274 rs751638814 |
70 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386522401 rs1566111286 |
71 | D>Y | No |
ClinGen Ensembl |
|
|
rs752467663 CA6820277 |
73 | E>K | Variant assessed as Somatic; 6.551e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386522477 rs1236810463 |
75 | A>P | No |
ClinGen TOPMed |
|
|
CA386522497 rs1433442439 |
76 | R>K | No |
ClinGen gnomAD |
|
|
rs777520610 CA386522515 |
77 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6820279 rs777520610 |
77 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755987884 CA386522508 |
77 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA244334495 rs893946632 |
78 | L>F | No |
ClinGen Ensembl |
|
|
rs1325214931 CA386522539 |
79 | G>E | No |
ClinGen gnomAD |
|
|
rs1283429862 CA386522531 |
79 | G>R | No |
ClinGen gnomAD |
|
|
CA386522555 rs757010705 |
80 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6820281 rs757010705 |
80 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6820280 rs537113870 |
80 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371582871 CA6820282 |
83 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386522652 rs1217793508 |
85 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1266693288 CA386522665 |
86 | A>V | No |
ClinGen gnomAD |
|
|
CA6820283 rs745431029 |
88 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386522714 rs1193031621 |
90 | I>V | No |
ClinGen gnomAD |
|
|
CA244334514 rs764198454 |
92 | I>T | No |
ClinGen Ensembl |
|
|
CA386522751 rs1593306101 |
94 | L>F | No |
ClinGen Ensembl |
|
|
rs1003663517 CA244334518 |
96 | I>V | No |
ClinGen Ensembl |
|
|
rs187625128 CA6820284 |
97 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386522774 rs576666159 |
98 | G>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA244334527 rs576666159 |
98 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 100 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386522795 rs1458197150 |
101 | C>S | No |
ClinGen gnomAD |
|
|
rs777015322 CA6820285 |
101 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1301754846 CA386522803 |
102 | A>E | No |
ClinGen gnomAD |
|
|
CA244334538 rs973290896 |
103 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386522815 rs1164827842 |
104 | H>Q | No |
ClinGen gnomAD |
|
|
CA386522810 rs1566111483 |
104 | H>Y | No |
ClinGen Ensembl |
|
|
rs748460598 CA6820286 |
105 | F>L | No |
ClinGen ExAC gnomAD |
No associated diseases with B4DJY2
No regional properties for B4DJY2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for B4DJY2 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQYAPSPDF | KRALDSSPEA | NTEDDKTEED | VPMPKNYLWL | TIVSCFCPAY | PINIVALVFS |
| 70 | 80 | 90 | 100 | ||
| IMSLNSYNDG | DYEGARRLGR | NAKWVAIASI | IIGLLIIGIS | CAVHFTRNA |