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

BABAM2 - BRISC and BRCA1 A complex member 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
19261749 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14636569 GOA
enables tumor necrosis factor receptor binding IDA
IDA: Inferred from direct assay
15465831 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA damage response IEP
IEP: Inferred from expression pattern
7826398 GOA
involved in cellular response to ionizing radiation IMP
IMP: Inferred from mutant phenotype
14636569 GOA
involved in double-strand break repair IMP
IMP: Inferred from mutant phenotype
19261748 GOA
involved in mitotic G2 DNA damage checkpoint signaling IMP
IMP: Inferred from mutant phenotype
19261748 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
15465831 GOA
involved in positive regulation of DNA repair IMP
IMP: Inferred from mutant phenotype
19261748 GOA
involved in response to ionizing radiation IMP
IMP: Inferred from mutant phenotype
19261748 GOA
Cellular Component GO Annotation Evidence Reference Source
part of BRCA1-A complex IDA
IDA: Inferred from direct assay
17525341 GOA
part of BRISC complex IDA
IDA: Inferred from direct assay
19214193 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
15465831 GOA
part of nuclear ubiquitin ligase complex IDA
IDA: Inferred from direct assay
14636569 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14636569 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

BABAM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Anti Bait CoIP
17353931
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Y2H Array
31515488
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
BiLC
37398436
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Y2H Pooling
16189514
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Anti Tag CoIP
19615732
Intra
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Lumier
37398436
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01332 BABAM2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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