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

Gene ID: 9577, updated on 25-Jan-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
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Genomic context

See BABAM2 in Genome Data Viewer
Location:
2p23.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27888709..28338901)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27931830..28382185)
105.20220307 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)

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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
    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_2023_10

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)