1. Gene
  2. BABAM2 - BRISC and BRCA1 A complex member 2 Gene

BABAM2 - BRISC and BRCA1 A complex member 2 Gene

Homo sapiens

Also known as BRE; BRCC4; BRCC45

Gene ID: 9577 | Gene type: protein coding

About BABAM2

Cytogenetic location: 2p23.2 Genomic coordinates (GRCh38): 2:27,888,709-28,338,901 (from NCBI)

This gene has 11 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in adrenal (RPKM 43.3), heart (RPKM 14.4) and 24 other tissues.

Summary

This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits Deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of Cancer. [provided by RefSeq, Jun 2016]

BABAM2 Products(10)

mRNA Protein Name
NM_001261840.2 NP_001248769.1 BRISC and BRCA1-A complex member 2 isoform 4
NM_001329112.1 NP_001316041.1 BRISC and BRCA1-A complex member 2 isoform 2
NM_001329113.2 NP_001316042.1 BRISC and BRCA1-A complex member 2 isoform 1
NM_001329114.2 NP_001316043.1 BRISC and BRCA1-A complex member 2 isoform 5
NM_001329115.2 NP_001316044.1 BRISC and BRCA1-A complex member 2 isoform 6
NM_004899.5 NP_004890.2 BRISC and BRCA1-A complex member 2 isoform 1
NM_199191.3 NP_954661.1 BRISC and BRCA1-A complex member 2 isoform 2
NM_199192.3 NP_954662.1 BRISC and BRCA1-A complex member 2 isoform 3
NM_199193.3 NP_954663.1 BRISC and BRCA1-A complex member 2 isoform 3
NM_199194.3 NP_954664.1 BRISC and BRCA1-A complex member 2 isoform 2

BABAM2 Protein Structure

BRE

BRE: Brain and reproductive organ-expressed protein (BRE) (1 - 333)

  • 0
  • 100
  • 200
  • 300
  • 383 a.a.
Protein Preferred Names Protein Names

BRISC and BRCA1-A complex member 2

BRCA1-A complex subunit BRE

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10

Brain Glioma

Lower Grade Glioma

Intracranial Glioma

Glioma Nos

Synchronous Bilateral Breast Carcinoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta BABAM2 VGNC VGNC:70048
Rattus norvegicus BABAM2 RGD RGD:735111
Felis catus BABAM2 VGNC VGNC:60067
Canis familiaris BABAM2 VGNC VGNC:38357
Bos taurus BABAM2 VGNC VGNC:26399
Mus musculus BABAM2 MGD MGI:1333875