UBASH3A (ubiquitin associated and SH3 domain containing A)

2014-11-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
CLIP4,STS-2,TULA,TULA-1
FUSION GENES

Other Information

Locus ID:

NCBI: 53347
MIM: 605736
HGNC: 12462
Ensembl: ENSG00000160185

Variants:

dbSNP: 53347
ClinVar: 53347
TCGA: ENSG00000160185
COSMIC: UBASH3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160185ENST00000291535P57075
ENSG00000160185ENST00000319294P57075
ENSG00000160185ENST00000398367P57075
ENSG00000160185ENST00000473381A0A0U1RQY9
ENSG00000160185ENST00000634718A0A0U1RR38
ENSG00000160185ENST00000635108A0A0U1RR03
ENSG00000160185ENST00000635189A0A0U1RQL4
ENSG00000160185ENST00000635325A0A0U1RRC9

Expression (GTEx)

0
1
2
3
4
5
6
7

References

Pubmed IDYearTitleCitations
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
204105012010Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.102
188407812009Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.48
151594122004Suppressors of T-cell receptor signaling Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases.38
181892692008TULA proteins regulate activity of the protein tyrosine kinase Syk.22
250754022014Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers.20
206472732010Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.14
177093772007T-cell ubiquitin ligand affects cell death through a functional interaction with apoptosis-inducing factor, a key factor of caspase-independent apoptosis.13
286071062017UBASH3A Mediates Risk for Type 1 Diabetes Through Inhibition of T-Cell Receptor-Induced NF-κB Signaling.13
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.10

Citation

Dessen P

UBASH3A (ubiquitin associated and SH3 domain containing A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75413/ubash3a