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

Gene ID: 9577, updated on 8-Jul-2021

Summary

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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
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
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Genomic context

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See BABAM2 in Genome Data Viewer
Location:
2p23.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27888709..28338901)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (28111576..28561768)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374378 Neighboring gene mitochondrial ribosomal protein L33 Neighboring gene ribokinase Neighboring gene BABAM2 antisense RNA 1 Neighboring gene uncharacterized LOC105374369 Neighboring gene small ubiquitin like modifier 1 pseudogene Neighboring gene MYG1 pseudogene 1 Neighboring gene microRNA 4263 Neighboring gene family with sequence similarity 133 member A pseudogene Neighboring gene uncharacterized LOC100505736 Neighboring gene uncharacterized LOC100505716 Neighboring gene ribosomal protein L23a pseudogene 34 Neighboring gene uncharacterized LOC105374381 Neighboring gene uncharacterized LOC105374382

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation. Marneth AE, et al. Leukemia, 2018 Mar. PMID 28871137
  2. BRE over-expression promotes growth of hepatocellular carcinoma. Chui YL, et al. Biochem Biophys Res Commun, 2010 Jan 15. PMID 20035718
  3. Differential expression of a novel gene BRE (TNFRSF1A modulator/BRCC45) in response to stress and biological signals. Chan JY, et al. Mol Biol Rep, 2010 Jan. PMID 19757177
  4. Comparative proteomic analysis reveals differentially expressed proteins regulated by a potential tumor promoter, BRE, in human esophageal carcinoma cells. Chen HB, et al. Biochem Cell Biol, 2008 Aug. PMID 18756325
  5. BRE enhances in vivo growth of tumor cells. Chan BC, et al. Biochem Biophys Res Commun, 2005 Jan 14. PMID 15582573

See all (77) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Associated conditions

Description Tests
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: MRPL33

Homology

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 
Process Evidence Code Pubs
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 DNA damage stimulus IEP
Inferred from Expression Pattern
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
 PubMed 
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 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 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
 PubMed 
part_of BRCA1-A complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BRISC complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
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 

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.

Genomic

  1. NG_051044.1 RefSeqGene

    Range
    6907..455193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001261840.2 → NP_001248769.1  BRISC and BRCA1-A complex member 2 isoform 4

    See identical proteins and their annotated locations for NP_001248769.1

    Status: REVIEWED

    Source sequence(s)
    AC021171, AF420605, CR994399
    UniProtKB/Swiss-Prot
    Q9NXR7
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  2. NM_001329112.1 → NP_001316041.1  BRISC and BRCA1-A complex member 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695
    Consensus CDS
    CCDS1763.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  3. NM_001329113.2 → NP_001316042.1  BRISC and BRCA1-A complex member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695
    Consensus CDS
    CCDS1764.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  4. NM_001329114.2 → NP_001316043.1  BRISC and BRCA1-A complex member 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

  5. NM_001329115.2 → NP_001316044.1  BRISC and BRCA1-A complex member 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

  6. NM_004899.5 → NP_004890.2  BRISC and BRCA1-A complex member 2 isoform 1

    See identical proteins and their annotated locations for NP_004890.2

    Status: REVIEWED

    Source sequence(s)
    AK000097, CR994399
    Consensus CDS
    CCDS1764.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Related
    ENSP00000343412.2, ENST00000344773.6
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  7. NM_199191.3 → NP_954661.1  BRISC and BRCA1-A complex member 2 isoform 2

    See identical proteins and their annotated locations for NP_954661.1

    Status: REVIEWED

    Source sequence(s)
    AC021171, AK291086, BC001251
    Consensus CDS
    CCDS1763.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Related
    ENSP00000368945.1, ENST00000379624.6
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  8. NM_199192.3 → NP_954662.1  BRISC and BRCA1-A complex member 2 isoform 3

    See identical proteins and their annotated locations for NP_954662.1

    Status: REVIEWED

    Source sequence(s)
    AC021171, AF420602, CR994399
    Consensus CDS
    CCDS1765.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Related
    ENSP00000354699.2, ENST00000361704.6
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  9. NM_199193.3 → NP_954663.1  BRISC and BRCA1-A complex member 2 isoform 3

    See identical proteins and their annotated locations for NP_954663.1

    Status: REVIEWED

    Source sequence(s)
    AC021171, AF420603, CR994399
    Consensus CDS
    CCDS1765.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Related
    ENSP00000368953.2, ENST00000379632.6
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

  10. NM_199194.3 → NP_954664.1  BRISC and BRCA1-A complex member 2 isoform 2

    See identical proteins and their annotated locations for NP_954664.1

    Status: REVIEWED

    Source sequence(s)
    AC021171, CR994399, L38616
    Consensus CDS
    CCDS1763.1
    UniProtKB/Swiss-Prot
    Q9NXR7
    Related
    ENSP00000339371.2, ENST00000342045.6
    Conserved Domains (1) summary
    pfam06113
    Location:8 → 333
    BRE; Brain and reproductive organ-expressed protein (BRE)

RNA

  1. NR_137437.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

  2. NR_137438.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

  3. NR_137439.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

  4. NR_137440.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021171, AC093690, AC096552, AC104695

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27888709..28338901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NXR7.2 GenPept UniProtKB/Swiss-Prot:Q9NXR7

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