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

    Gene ID: 9577, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BABAM2 in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27938889-27939403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27939404-27939917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11305 Neighboring gene MPRA-validated peak3633 silencer Neighboring gene MPRA-validated peak3634 silencer Neighboring gene MPRA-validated peak3635 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27975487-27976105 Neighboring gene MPRA-validated peak3636 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27994581-27995397 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:28021515-28022714 Neighboring gene mitochondrial ribosomal protein L33 Neighboring gene ribokinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11306 Neighboring gene BABAM2 antisense RNA 1 Neighboring gene MPRA-validated peak3637 silencer Neighboring gene uncharacterized LOC105374369 Neighboring gene small ubiquitin like modifier 1 pseudogene Neighboring gene MYG1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3162 Neighboring gene microRNA 4263 Neighboring gene family with sequence similarity 133 member A pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:28348386-28348576 Neighboring gene MPRA-validated peak3638 silencer Neighboring gene uncharacterized LOC100505736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:28472667-28473167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:28487601-28488102 Neighboring gene uncharacterized LOC124907745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15514 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:28498303-28499502 Neighboring gene uncharacterized LOC100505716 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:28532030-28533229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:28542037-28543032 Neighboring gene ribosomal protein L23a pseudogene 34 Neighboring gene MPRA-validated peak3639 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:28562837-28563456 Neighboring gene uncharacterized LOC105374381 Neighboring gene uncharacterized LOC105374382 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:28582187-28583386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:28583785-28584472

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MRPL33

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    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 NAS
    Non-traceable Author Statement
    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 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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
      7021..455193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001261840.2NP_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:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    2. NM_001329112.1NP_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
      A8K4X1, D6W562, D6W563, Q13880, Q4ZFX8, Q53SD0, Q969X9, Q96P06, Q9NXR7
      UniProtKB/TrEMBL
      Q6ZWH1
      Conserved Domains (1) summary
      pfam06113
      Location:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    3. NM_001329113.2NP_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:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    4. NM_001329114.2NP_001316043.1  BRISC and BRCA1-A complex member 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC021171, AC093690, AC096552, AC104695
    5. NM_001329115.2NP_001316044.1  BRISC and BRCA1-A complex member 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC021171, AC093690, AC096552, AC104695
    6. NM_004899.5NP_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:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    7. NM_199191.3NP_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
      A8K4X1, D6W562, D6W563, Q13880, Q4ZFX8, Q53SD0, Q969X9, Q96P06, Q9NXR7
      UniProtKB/TrEMBL
      Q6ZWH1
      Related
      ENSP00000368945.1, ENST00000379624.6
      Conserved Domains (1) summary
      pfam06113
      Location:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    8. NM_199192.3NP_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:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    9. NM_199193.3NP_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:8333
      BRE; Brain and reproductive organ-expressed protein (BRE)
    10. NM_199194.3NP_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
      A8K4X1, D6W562, D6W563, Q13880, Q4ZFX8, Q53SD0, Q969X9, Q96P06, Q9NXR7
      UniProtKB/TrEMBL
      Q6ZWH1
      Related
      ENSP00000339371.2, ENST00000342045.6
      Conserved Domains (1) summary
      pfam06113
      Location:8333
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27888709..28338901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27931830..28382185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)