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Aliases for BABAM2 Gene

Aliases for BABAM2 Gene

  • BRISC And BRCA1 A Complex Member 2 2 3 5
  • Brain And Reproductive Organ-Expressed (TNFRSF1A Modulator) 2 3
  • Brain And Reproductive Organ-Expressed Protein 3 4
  • BRCA1/BRCA2-Containing Complex, Subunit 4 2 3
  • BRCA1/BRCA2-Containing Complex Subunit 45 3 4
  • BRCA1-A Complex Subunit BRE 3 4
  • BRCC45 3 4
  • BRE 3 4
  • BRISC And BRCA1-A Complex Member 2 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 Cell Cycle, Mitotic and Metabolism of proteins.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BABAM2 Gene

Promoters and enhancers for BABAM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J027884 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 650.7 -1.3 -1276 7.5 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 SP3 PPARGC1A MEF2D BABAM2 RBKS CAD ZNF513 GPN1 GTF3C2 LOC105374363 GTF3C2-AS1 TRMT61B SNX17
GH02J027770 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.1 -117.4 -117380 3.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 MRPL33 BABAM2 AGBL5 PPM1G FNDC4 GC02P027841 GC02M027478
GH02J027977 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.2 +88.2 88153 1.5 ESRRA JUN SIN3A CEBPG RAD21 RFX5 ZEB1 FOSL1 ZNF766 ZNF366 BABAM2 GC02M027983 LOC100422227 GC02M027478 MRPL33
GH02J027967 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.2 +77.4 77392 0.1 BABAM2 LOC100422227 GC02M027983 MRPL33 GC02M027478
GH02J027969 Promoter 0.5 EPDnew 650.2 +79.2 79186 0.1 BABAM2 GC02M027983 LOC100422227 GC02M027478 MRPL33
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BABAM2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BABAM2 Gene

Genomic Locations for BABAM2 Gene
chr2:27,889,941-28,338,901
(GRCh38/hg38)
Size:
448,961 bases
Orientation:
Plus strand
chr2:28,112,808-28,561,768
(GRCh37/hg19)
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-BABA2_HUMAN
    Recommended name:
    BRISC and BRCA1-A complex member 2
    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, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:21282113, PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with ABRAXAS1, BRCC3/BRCC36 and BABAM1/NBA1. Binds polyubiquitin. Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for BABAM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BABAM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXR7

UniProtKB/Swiss-Prot:

BABA2_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 BABAM2 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 BABAM2 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).

Phenotypes From GWAS Catalog for BABAM2 Gene

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 modification-dependent protein 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:
  • Babam2 Babam2<tm1b(EUCOMM)Wtsi>
  • Babam2 Babam2<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for BABAM2 Gene

miRTarBase miRNAs that target BABAM2

Clone 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
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA,IEA 15465831
GO:0005829 cytosol IDA,TAS --
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

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:0006325 chromatin organization IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with BABAM2: view

No data available for SIGNOR curated interactions for BABAM2 Gene

Drugs & Compounds for BABAM2 Gene

No Compound Related Data Available

Transcripts for BABAM2 Gene

Clone 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-BABA2_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)
genes like me logo Genes that share expression patterns with BABAM2: view

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 33
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia BRE 34 33
  • 94.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BRE 34 33
  • 92.95 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRE 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bre 33
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Bre 34 33
  • 90.25 (n)
OneToOne
Babam2 16
platypus
(Ornithorhynchus anatinus)
Mammalia BRE 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRE 34 33
  • 82.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRE 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bre 33
  • 78.33 (n)
Str.8399 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6907 33
zebrafish
(Danio rerio)
Actinopterygii bre 34 33
  • 73.98 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G42470 33
  • 44.55 (n)
rice
(Oryza sativa)
Liliopsida Os06g0715600 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BABAM2: view image

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 Variation AA Info Type
rs193920803 uncertain-significance, Malignant tumor of prostate 28,129,326(+) A/G coding_sequence_variant, missense_variant
rs1000000757 -- 28,187,175(+) A/T intron_variant
rs1000007139 -- 28,072,573(+) G/A intron_variant
rs1000013223 -- 28,332,628(+) C/T intron_variant
rs1000017453 -- 28,090,354(+) C/T 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)

Additional Variant Information 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

Additional Disease Information for 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 YL (The Journal of biological chemistry 2004) 3 4 22 58
  2. BRE modulates granulosa cell death to affect ovarian follicle development and atresia in the mouse. (PMID: 28333135) Yeung CK … Yang X (Cell death & disease 2017) 2 3 58
  3. BRE plays an essential role in preventing replicative and DNA damage-induced premature senescence. (PMID: 27001068) Shi W … Lee KK (Scientific reports 2016) 2 3 58
  4. The deubiquitinating enzyme complex BRISC is required for proper mitotic spindle assembly in mammalian cells. (PMID: 26195665) Yan K … Shao G (The Journal of cell biology 2015) 3 4 58
  5. ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53. (PMID: 25283148) Zhang J … Yang X (Nature communications 2014) 3 4 58

Products for BABAM2 Gene

Sources for BABAM2 Gene

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