BABAM2 BRISC and BRCA1 A complex member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BABAM2provided by HGNC
Official Full Name: BRISC and BRCA1 A complex member 2provided by HGNC
Primary source: HGNC:HGNC:1106
See related: Ensembl:ENSG00000158019 MIM:610497; AllianceGenome:HGNC:1106
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRE; BRCC4; BRCC45
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]
Expression: Ubiquitous expression in adrenal (RPKM 43.3), heart (RPKM 14.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27888709..28338901)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27931830..28382185)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (28111576..28561768)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The BRE rs7572644 and NRG3 rs1649942 genetic variants were validated in an independent cohort of EOC Portuguese patients.
Title: Pharmacogenomics in epithelial ovarian cancer first-line treatment outcome: validation of GWAS-associated NRG3 rs1649942 and BRE rs7572644 variants in an independent cohort.
C-terminal BRE might be an important contributor to this program because in a case with relapsed AML, we observed an ins(11;2) fusing CHORDC1 to BRE at the region where intragenic transcription starts in KMT2A-rearranged and KAT6A-CREBBP AML.
Title: C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation.
show that BRE facilitates deubiquitylation of CDC25A by recruiting ubiquitin-specific-processing protease 7 (USP7) in the presence of DNA damage
Title: BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.
Results show that BRE expression is regulated by HOTTIP LncRNA. Its over-expression promotes cell proliferation and cell cycle progression inhibiting apoptosis of glioma cells.
Title: Over-expression of the long non-coding RNA HOTTIP inhibits glioma cell growth by BRE.
High BRE and high EVI1 expression are mutually exclusive in MLL-AF9-positive acute myeloid leukemia patients.
Title: Improved classification of MLL-AF9-positive acute myeloid leukemia patients based on BRE and EVI1 expression.
High BRE expression defines a novel subtype of adult acute myeloid leukemia characterized by a favorable prognosis.
Title: High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients.
NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes
Title: NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes.
overexpression of the BRE gene is predominantly found in MLL-rearranged AML with t(9;11)(p22;q23).
Title: High BRE expression in pediatric MLL-rearranged AML is associated with favorable outcome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
A novel stress-responsive gene called BRE which interacts with TNF-receptor-1 and blocks the apoptotic effect of TNF-alpha, was identified.
Title: Differential expression of a novel gene BRE (TNFRSF1A modulator/BRCC45) in response to stress and biological signals.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of body fat distribution in African ancestry populations suggests new loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-111684 (e-PCR)
- UniSTS:168480

RH66226 (e-PCR)
- UniSTS:50981

D2S2920 (e-PCR)
- UniSTS:74790

RH118779 (e-PCR)
- UniSTS:138280

D2S1980 (e-PCR)
- UniSTS:70745

D2S223 (e-PCR)
- UniSTS:148104

D2S2556 (e-PCR)
- UniSTS:38551

RH70472 (e-PCR)
- UniSTS:71322

D2S1615E (e-PCR)
- UniSTS:150689

RH48736 (e-PCR)
- UniSTS:74419

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peroxisome targeting sequence binding	TAS Traceable Author Statement more info	PubMed
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tumor necrosis factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables tumor necrosis factor receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IEP Inferred from Expression Pattern more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked deubiquitination	IC Inferred by Curator more info	PubMed
involved_in regulation of DNA damage checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-A complex	IDA Inferred from Direct Assay more info	PubMed
part_of BRCA1-A complex	IEA Inferred from Electronic Annotation more info
part_of BRCA1-A complex	NAS Non-traceable Author Statement more info	PubMed
part_of BRISC complex	IDA Inferred from Direct Assay more info	PubMed
part_of BRISC complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of nuclear ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: BRISC and BRCA1-A complex member 2

Names: BRCA1-A complex subunit BRE; BRCA1/BRCA2-containing complex subunit 45; BRCA1/BRCA2-containing complex, subunit 4; brain and reproductive organ-expressed (TNFRSF1A modulator); brain and reproductive organ-expressed protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.