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Aliases for BABAM2 Gene

Aliases for BABAM2 Gene

  • BRISC And BRCA1 A Complex Member 2 2 3
  • Brain And Reproductive Organ-Expressed (TNFRSF1A Modulator) 2 3 5
  • BRE 3 4 5
  • Brain And Reproductive Organ-Expressed Protein 3 4
  • BRCA1/BRCA2-Containing Complex, Subunit 4 2 3
  • BRCA1/BRCA2-Containing Complex Subunit 45 3 4
  • BRCC45 3 4
  • BRCA1-A Complex Subunit BRE 3
  • BRCC4 3

External Ids for BABAM2 Gene

Previous HGNC Symbols for BABAM2 Gene

  • BRE

Summaries for BABAM2 Gene

Entrez Gene Summary for BABAM2 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 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]

GeneCards Summary for BABAM2 Gene

BABAM2 (BRISC And BRCA1 A Complex Member 2) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Deubiquitination.

UniProtKB/Swiss-Prot for BABAM2 Gene

  • 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). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).

Gene Wiki entry for BABAM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BABAM2 Gene

Genomics for BABAM2 Gene

Regulatory Elements for BABAM2 Gene

Enhancers for BABAM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027919 1.5 FANTOM5 Ensembl ENCODE 2.3 +31.4 31423 3.4 ELF3 KLF1 ZBTB21 JUN SIN3A CEBPG ZBTB40 RAD21 KLF7 PRDM10 FOSL2 RBKS SNX17 FNDC4 BABAM2 LOC105374369 LOC100420770
GH02G027953 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +67.3 67292 8.5 PKNOX1 MLX SIN3A YY1 GATA2 FOS REST PPARG SSRP1 PBX2 FOSL2 RBKS FLJ31356 FNDC4 C2orf16 CGREF1 LINC01460 BABAM2 GCKR LOC100422227
GH02G028376 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.3 +490.2 490245 7.4 HDGF PKNOX1 ZSCAN4 ZBTB40 ZBTB7B GATA2 SMARCC2 MCM3 NFYA ZBTB11 ZNF512 ENSG00000235267 ENSG00000270210 FOSL2 RBKS PPP1CB BABAM2 LOC105374383 GC02P028390
GH02G027884 1.7 Ensembl ENCODE dbSUPER 0.7 -1.3 -1277 7.5 CREB3L1 DMAP1 YBX1 YY1 SP3 TBX21 PPARGC1A MEF2D GLIS1 RCOR2 TRMT61B KRTCAP3 FNDC4 SLC4A1AP BABAM2 GC02P027841
GH02G027656 0.4 FANTOM5 2.2 -233.8 -233789 0.3 MAFK RBFOX2 SLC4A1AP GPN1 CCDC121 ZNF512 IFT172 NRBP1 KRTCAP3 SLC5A6 SUPT7L GTF3C2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BABAM2 on UCSC Golden Path with GeneCards custom track

Promoters for BABAM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114497 659 2001 CREB3L1 DMAP1 YBX1 YY1 SP3 TBX21 PPARGC1A MEF2D GLIS1 RCOR2

Genomic Location for BABAM2 Gene

Chromosome:
2
Start:
27,889,941 bp from pter
End:
28,338,901 bp from pter
Size:
448,961 bases
Orientation:
Plus strand

Genomic View for BABAM2 Gene

Genes around BABAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BABAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BABAM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BABAM2 Gene

Proteins for BABAM2 Gene

  • Protein details for BABAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXR7-BRE_HUMAN
    Recommended name:
    BRCA1-A complex subunit BRE
    Protein Accession:
    Q9NXR7
    Secondary Accessions:
    • A8K4X1
    • D6W562
    • D6W563
    • Q13880
    • Q4ZFX8
    • Q53SD0
    • Q969X9
    • Q96P06

    Protein attributes for BABAM2 Gene

    Size:
    383 amino acids
    Molecular mass:
    43552 Da
    Quaternary structure:
    • Component of the ARISC complex, at least composed of UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:21282113, PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas, BRCC3/BRCC36 and BABAM1/NBA1. Binds polyubiquitin. Component of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985). Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BRCC3/BRCC36 and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. May interact with FAS and TNFRSF1A (PubMed:15465831).

    Alternative splice isoforms for BABAM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BABAM2 Gene

Post-translational modifications for BABAM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BABAM2 Gene

Domains & Families for BABAM2 Gene

Gene Families for BABAM2 Gene

Protein Domains for BABAM2 Gene

Suggested Antigen Peptide Sequences for BABAM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXR7

UniProtKB/Swiss-Prot:

BRE_HUMAN :
  • Contains 2 ubiquitin-conjugating enzyme family-like (UEV-like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.
  • Belongs to the BRE family.
Domain:
  • Contains 2 ubiquitin-conjugating enzyme family-like (UEV-like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.
Family:
  • Belongs to the BRE family.
genes like me logo Genes that share domains with BABAM2: view

Function for BABAM2 Gene

Molecular function for BABAM2 Gene

UniProtKB/Swiss-Prot 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). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).
UniProtKB/Swiss-Prot Induction:
Down-regulated by DNA-damaging agents in fibroblasts, by retinoic acid in brain glioma U-251MG and promyelocytic HL-60 cell lines, and by bacterial lipopolysaccharides (LPS) in peripheral blood mononuclear cells (PBMC).

Gene Ontology (GO) - Molecular Function for BABAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000268 peroxisome targeting sequence binding TAS 11676476
GO:0005164 tumor necrosis factor receptor binding IDA 15465831
GO:0005515 protein binding IPI 14636569
GO:0031593 polyubiquitin binding IDA 19261749
genes like me logo Genes that share ontologies with BABAM2: view
genes like me logo Genes that share phenotypes with BABAM2: view

Animal Models for BABAM2 Gene

MGI Knock Outs for BABAM2:
  • Bre tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for BABAM2 Gene

miRTarBase miRNAs that target BABAM2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BABAM2 Gene

Localization for BABAM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BABAM2 Gene

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269 PubMed:19261748}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BABAM2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BABAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000152 nuclear ubiquitin ligase complex IDA 14636569
GO:0005634 nucleus IDA,IEA 15465831
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 15465831
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with BABAM2: view

Pathways & Interactions for BABAM2 Gene

genes like me logo Genes that share pathways with BABAM2: view

Pathways by source for BABAM2 Gene

1 Cell Signaling Technology pathway for BABAM2 Gene
1 KEGG pathway for BABAM2 Gene

Gene Ontology (GO) - Biological Process for BABAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 19261748
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006915 apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEP 7826398
genes like me logo Genes that share ontologies with BABAM2: view

No data available for SIGNOR curated interactions for BABAM2 Gene

Transcripts for BABAM2 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BABAM2 Gene

No ASD Table

Relevant External Links for BABAM2 Gene

GeneLoc Exon Structure for
BABAM2
ECgene alternative splicing isoforms for
BABAM2

Expression for BABAM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of BABAM2 Gene:

BABAM2

mRNA Expression by UniProt/SwissProt for BABAM2 Gene:

Q9NXR7-BRE_HUMAN
Tissue specificity: Expressed in all cell lines examined. Highly expressed in placenta.

Evidence on tissue expression from TISSUES for BABAM2 Gene

  • Nervous system(4.1)
  • Kidney(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with BABAM2: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BABAM2 Gene

Orthologs for BABAM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BABAM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRE 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia BRE 34 35
  • 94.17 (n)
cow
(Bos Taurus)
Mammalia BRE 34 35
  • 92.95 (n)
oppossum
(Monodelphis domestica)
Mammalia BRE 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bre 34
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Bre 34 16 35
  • 90.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BRE 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRE 34 35
  • 82.51 (n)
lizard
(Anolis carolinensis)
Reptilia BRE 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bre 34
  • 78.33 (n)
Str.8399 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6907 34
zebrafish
(Danio rerio)
Actinopterygii bre 34 35
  • 73.98 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G42470 34
  • 44.55 (n)
rice
(Oryza sativa)
Liliopsida Os06g0715600 34
  • 43.99 (n)
Species where no ortholog for BABAM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BABAM2 Gene

ENSEMBL:
Gene Tree for BABAM2 (if available)
TreeFam:
Gene Tree for BABAM2 (if available)

Paralogs for BABAM2 Gene

No data available for Paralogs for BABAM2 Gene

Variants for BABAM2 Gene

Sequence variations from dbSNP and Humsavar for BABAM2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs193920803 Uncertain significance 28,129,326(+) TGAGG(A/G)CACTG nc-transcript-variant, reference, missense
rs1000000757 -- 28,187,175(+) ATGTG(A/T)GTCTT intron-variant
rs1000007139 -- 28,072,573(+) GTAGA(A/G)ACGGG intron-variant
rs1000013223 -- 28,332,628(+) CCAAC(C/T)AACAC intron-variant
rs1000017453 -- 28,090,354(+) ATTCT(C/T)CTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BABAM2 Gene

Variant ID Type Subtype PubMed ID
esv2252743 CNV deletion 18987734
esv2470846 CNV deletion 19546169
esv2659295 CNV deletion 23128226
esv2667473 CNV deletion 23128226
esv2719837 CNV deletion 23290073
esv2759034 CNV gain 17122850
esv3306953 CNV mobile element insertion 20981092
esv33936 CNV loss 17666407
esv3443970 CNV insertion 20981092
esv3554189 CNV deletion 23714750
esv3554200 CNV deletion 23714750
esv3583681 CNV loss 25503493
esv3590153 CNV loss 21293372
esv3590154 CNV loss 21293372
esv3590156 CNV loss 21293372
esv3891659 CNV loss 25118596
esv3893 CNV loss 18987735
esv9589 CNV gain 19470904
nsv1006830 CNV gain 25217958
nsv1127714 CNV deletion 24896259
nsv1134843 CNV deletion 24896259
nsv1144901 CNV deletion 24896259
nsv1152707 CNV deletion 26484159
nsv215424 CNV deletion 16902084
nsv473802 CNV novel sequence insertion 20440878
nsv476364 CNV novel sequence insertion 20440878
nsv516533 CNV loss 19592680
nsv527688 CNV loss 19592680
nsv819706 CNV gain 19587683
nsv833625 CNV loss 17160897
nsv953762 CNV duplication 24416366
nsv955056 CNV deletion 24416366
nsv963217 CNV duplication 23825009
nsv978989 CNV duplication 23825009

Variation tolerance for BABAM2 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BABAM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BABAM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BABAM2 Gene

Disorders for BABAM2 Gene

Relevant External Links for BABAM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BABAM2

No disorders were found for BABAM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BABAM2 Gene

Publications for BABAM2 Gene

  1. A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. (PMID: 15465831) Li Q. … Chui Y.-L. (J. Biol. Chem. 2004) 3 4 22 64
  2. BRE modulates granulosa cell death to affect ovarian follicle development and atresia in the mouse. (PMID: 28333135) Yeung C.K. … Yang X. (Cell Death Dis 2017) 2 3 64
  3. BRE plays an essential role in preventing replicative and DNA damage-induced premature senescence. (PMID: 27001068) Shi W. … Lee K.K. (Sci Rep 2016) 2 3 64
  4. The deubiquitinating enzyme complex BRISC is required for proper mitotic spindle assembly in mammalian cells. (PMID: 26195665) Yan K. … Shao G. (J. Cell Biol. 2015) 3 4 64
  5. ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53. (PMID: 25283148) Zhang J. … Yang X. (Nat Commun 2014) 3 4 64

Products for BABAM2 Gene

Sources for BABAM2 Gene

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