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

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8IXB3 TRARG1 Trafficking regulator of GLUT4 1 Homo sapiens (Human) PR
D3Z1U7 Tmem233 Transmembrane protein 233 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSQYAPSPDF KRALDSSPEA NTEDDKTEED VPMPKNYLWL TIVSCFCPAY PINIVALVFS
70 80 90 100
IMSLNSYNDG DYEGARRLGR NAKWVAIASI IIGLLIIGIS CAVHFTRNA