Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9577
Gene name Gene Name - the full gene name approved by the HGNC.	BRISC and BRCA1 A complex member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BABAM2
Synonyms (NCBI Gene) Gene synonyms aliases	BRCC4, BRCC45, BRE
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 BRCA

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
NR4A1	Repression	22159226

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000152	Component	Nuclear ubiquitin ligase complex	IDA	14636569
GO:0000268	Function	Peroxisome targeting sequence binding	TAS	11676476
GO:0005164	Function	Tumor necrosis factor receptor binding	IDA	15465831
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	14636569, 15465831, 16189514, 19261748, 19261749, 19615732, 28514442, 31515488, 33961781, 35512704, 37398436
GO:0005634	Component	Nucleus	IDA	14636569, 15465831, 19261748, 24075985
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	20656689
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15465831, 24075985
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IMP	19261748
GO:0006325	Process	Chromatin organization	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEP	7826398
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	19261748
GO:0007165	Process	Signal transduction	TAS	9737713
GO:0010212	Process	Response to ionizing radiation	IMP	19261748, 19261749
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	19261749
GO:0043066	Process	Negative regulation of apoptotic process	IDA	15465831
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045739	Process	Positive regulation of DNA repair	IMP	19261748
GO:0051301	Process	Cell division	IEA
GO:0070531	Component	BRCA1-A complex	IBA
GO:0070531	Component	BRCA1-A complex	IDA	17525341, 19261746, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	IEA
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0070536	Process	Protein K63-linked deubiquitination	IC	24075985
GO:0070552	Component	BRISC complex	IDA	19214193, 24075985
GO:0070552	Component	BRISC complex	IEA
GO:0071479	Process	Cellular response to ionizing radiation	IMP	14636569
GO:2000001	Process	Regulation of DNA damage checkpoint	NAS	14636569

MIM	HGNC	e!Ensembl
610497	1106	ENSG00000158019

Protein

UniProt ID

Q9NXR7

Protein name

BRISC and BRCA1-A complex member 2 (BRCA1-A complex subunit BRE) (BRCA1/BRCA2-containing complex subunit 45) (Brain and reproductive organ-expressed protein)

Protein function

Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs

PDB

6H3C , 6R8F , 8PVY , 8PY2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06113	BRE	8 → 333	Brain and reproductive organ-expressed protein (BRE)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all cell lines examined. Highly expressed in placenta. {ECO:0000269|PubMed:11676476}.

Sequence

MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHI
PYAGETLKWDIIFNAQYPELPPDFIFGEDAEFLPDPSALQNLASWNPSNPECLLLVVKEL
VQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDVNEDPGEDVALLSVSFEDTEATQVYPKLYLSPRIEHALGGSSALHIPAF
PGGGCLIDYVPQVCHLLTNKVQYVIQGYHKRREYIAAFLSHFGTGVVEYDAEGFTKLTLL
LMWKDFCFLVHIDLPLFFPRDQPTLTFQSVYHFTNSGQLYSQAQKNYPYSPRWDGNEMAK
RAKAYFKTFVPQFQEAAFANGKL

Sequence length

383

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends G2/M DNA damage checkpoint

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bipolar Disorder	Bipolar disorder, Bipolar I disorder	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Dyslexia	Dyslexia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hyperlipidemia	Familial combined hyperlipidemia defined by Brunzell criteria	N/A	N/A	GWAS
Hypogonadism	Hypogonadism	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Tremor	Essential tremor	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	23712748
Bipolar Disorder	Associate	23712748
Breast Neoplasms	Associate	21799032, 22706632
Encephalitis Herpes Simplex	Associate	28039910
Leukemia Myeloid Acute	Associate	21937695
Mitochondrial Diseases	Inhibit	15465831
Multiple Myeloma	Associate	7568160
Neoplasms	Inhibit	26848770
Neoplasms	Associate	28039910
Ovarian Neoplasms	Stimulate	21799032
Polyomavirus Infections	Associate	28039910
Triple Negative Breast Neoplasms	Associate	26848770

BABAM2 (BRISC and BRCA1 A complex member 2)