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

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

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

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

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