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Aliases for ABRAXAS2 Gene

Aliases for ABRAXAS2 Gene

  • Abraxas 2, BRISC Complex Subunit 2 3 5
  • KIAA0157 2 3 4
  • Family With Sequence Similarity 175 Member B 2 3
  • Abraxas Brother Protein 1 3 4
  • FAM175B 3 4
  • ABRO1 3 4
  • Family With Sequence Similarity 175, Member B 2
  • BRISC Complex Subunit Abraxas 2 3
  • BRISC Complex Subunit Abro1 3
  • Abraxas Brother 1 3
  • Protein FAM175B 4
  • Abraxas Brother 2

External Ids for ABRAXAS2 Gene

Previous HGNC Symbols for ABRAXAS2 Gene

  • KIAA0157
  • FAM175B

Summaries for ABRAXAS2 Gene

GeneCards Summary for ABRAXAS2 Gene

ABRAXAS2 (Abraxas 2, BRISC Complex Subunit) is a Protein Coding gene. Diseases associated with ABRAXAS2 include Myocardial Infarction. Among its related pathways are Metabolism of proteins and Deubiquitination. An important paralog of this gene is ABRAXAS1.

UniProtKB/Swiss-Prot for ABRAXAS2 Gene

  • Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm (PubMed:20656690). Plays a role in regulating the onset of apoptosis via its role in modulating Lys-63-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activities by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Required for normal induction of p53/TP53 in response to DNA damage (PubMed:25283148). Independent of the BRISC complex, promotes interaction between USP7 and p53/TP53, and thereby promotes deubiquitination of p53/TP53, preventing its degradation and resulting in increased p53/TP53-mediated transcription regulation and p53/TP53-dependent apoptosis in response to DNA damage (PubMed:25283148).

Gene Wiki entry for ABRAXAS2 Gene

Additional gene information for ABRAXAS2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABRAXAS2 Gene

Genomics for ABRAXAS2 Gene

GeneHancer (GH) Regulatory Elements for ABRAXAS2 Gene

Promoters and enhancers for ABRAXAS2 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
GH10J124800 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.6 -0.2 -156 2.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 ZNF143 ABRAXAS2 EEF1AKMT2 EDRF1-AS1 EDRF1
GH10J124731 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -61.4 -61352 18.4 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FAM53B EEF1AKMT2 ENSG00000234134 ABRAXAS2 GC10P124736 ENSG00000258539
GH10J124714 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -79.0 -78987 16.1 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT SIN3A IRF4 ZNF766 ZNF207 FAM53B EEF1AKMT2 ABRAXAS2 ZRANB1 GC10P124712 GC10P124736 FAM53B-AS1 ENSG00000258539
GH10J124529 Enhancer 1.1 Ensembl ENCODE 21 -271.5 -271471 1.2 HDGF ARID4B SIN3A ZNF2 ZNF48 ETS1 GLIS2 ZNF143 KLF7 DEK ABRAXAS2 EEF1AKMT2 FAM53B NKX1-2 LHPP GC10P124539 PIR39838 GC10P124510
GH10J123993 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -805.6 -805578 5.2 PKNOX1 SIN3A ZNF48 GLIS2 ZNF143 ZNF548 FOS RUNX3 KLF13 SP3 CHST15 BUB3 EEF1AKMT2 ABRAXAS2 FAM53B ENSG00000234677 YBX2P1 ENSG00000232334
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABRAXAS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABRAXAS2 Gene

Genomic Locations for ABRAXAS2 Gene
chr10:124,801,785-124,836,670
(GRCh38/hg38)
Size:
34,886 bases
Orientation:
Plus strand
chr10:126,490,354-126,525,239
(GRCh37/hg19)
Size:
34,886 bases
Orientation:
Plus strand

Genomic View for ABRAXAS2 Gene

Genes around ABRAXAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABRAXAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABRAXAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABRAXAS2 Gene

Proteins for ABRAXAS2 Gene

  • Protein details for ABRAXAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15018-ABRX2_HUMAN
    Recommended name:
    BRISC complex subunit Abraxas 2
    Protein Accession:
    Q15018
    Secondary Accessions:
    • B4DKR2
    • Q96H11

    Protein attributes for ABRAXAS2 Gene

    Size:
    415 amino acids
    Molecular mass:
    46901 Da
    Quaternary structure:
    • Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19214193, PubMed:20032457, PubMed:21282113, PubMed:24075985, PubMed:25283148, PubMed:26344097, PubMed:26195665). Interacts with BRCC3/BRCC36; the interaction is direct (PubMed:20032457, PubMed:20656690, PubMed:26344097). Interacts with BABAM1 (PubMed:21282113). Does not interact with BRCA1 (PubMed:17525340, PubMed:21282113). Interacts with SHMT1 and SHMT2; the interaction is direct. Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985). The BRISC complex binds monoubiquitin and both Lys-48- and Lys-63-linked polyubiquitin (PubMed:20032457). Identified in complexes with IFNAR1, IFNAR2 and SHMT2 (PubMed:24075985). Interacts with THAP5 (PubMed:21195082). Interacts with ATF4 (PubMed:22974638). Identified in a complex with p53/TP53 and USP7; interacts directly with both proteins (PubMed:25283148). Interacts with NUMA1 (PubMed:26195665). Interacts with microtubule minus ends (PubMed:26195665). Binds polyubiquitin (PubMed:19261749).
    SequenceCaution:
    • Sequence=BAA09927.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ABRAXAS2 Gene

Post-translational modifications for ABRAXAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABRAXAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABRAXAS2 Gene

Domains & Families for ABRAXAS2 Gene

Gene Families for ABRAXAS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABRAXAS2 Gene

Suggested Antigen Peptide Sequences for ABRAXAS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15018

UniProtKB/Swiss-Prot:

ABRX2_HUMAN :
  • Belongs to the FAM175 family. Abro1 subfamily.
Family:
  • Belongs to the FAM175 family. Abro1 subfamily.
genes like me logo Genes that share domains with ABRAXAS2: view

Function for ABRAXAS2 Gene

Molecular function for ABRAXAS2 Gene

UniProtKB/Swiss-Prot Function:
Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm (PubMed:20656690). Plays a role in regulating the onset of apoptosis via its role in modulating Lys-63-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activities by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Required for normal induction of p53/TP53 in response to DNA damage (PubMed:25283148). Independent of the BRISC complex, promotes interaction between USP7 and p53/TP53, and thereby promotes deubiquitination of p53/TP53, preventing its degradation and resulting in increased p53/TP53-mediated transcription regulation and p53/TP53-dependent apoptosis in response to DNA damage (PubMed:25283148).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to DNA damage (PubMed:25283148). Up-regulated in myocardial infarction area (at protein level) (PubMed:21195082).

Phenotypes From GWAS Catalog for ABRAXAS2 Gene

Gene Ontology (GO) - Molecular Function for ABRAXAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17353931
GO:0008017 microtubule binding IDA 26195665
GO:0031593 polyubiquitin modification-dependent protein binding IDA 19261749
genes like me logo Genes that share ontologies with ABRAXAS2: view
genes like me logo Genes that share phenotypes with ABRAXAS2: view

Animal Models for ABRAXAS2 Gene

MGI Knock Outs for ABRAXAS2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABRAXAS2 Gene

Localization for ABRAXAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABRAXAS2 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton. Note=A minor proportion is detected in the nucleus (PubMed:21282113, PubMed:22974638). Translocates into the nucleus in response to DNA damage (PubMed:25283148). Directly binds to microtubules and is detected at the minus end of K-fibers (PubMed:26195665). Co-localizes with NUMA1 at mitotic spindle poles (PubMed:26195665). {ECO:0000269 PubMed:21282113, ECO:0000269 PubMed:22974638, ECO:0000269 PubMed:25283148, ECO:0000269 PubMed:26195665}.

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 ABRAXAS2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABRAXAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 21195082
GO:0005813 colocalizes_with centrosome IDA 26195665
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ABRAXAS2: view

Pathways & Interactions for ABRAXAS2 Gene

genes like me logo Genes that share pathways with ABRAXAS2: view

Pathways by source for ABRAXAS2 Gene

Gene Ontology (GO) - Biological Process for ABRAXAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 26195665
GO:0002931 response to ischemia IMP 21195082
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IMP 26195665
GO:0008608 attachment of spindle microtubules to kinetochore IMP 26195665
genes like me logo Genes that share ontologies with ABRAXAS2: view

No data available for SIGNOR curated interactions for ABRAXAS2 Gene

Drugs & Compounds for ABRAXAS2 Gene

No Compound Related Data Available

Transcripts for ABRAXAS2 Gene

mRNA/cDNA for ABRAXAS2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ABRAXAS2 Gene

No ASD Table

Relevant External Links for ABRAXAS2 Gene

GeneLoc Exon Structure for
ABRAXAS2
ECgene alternative splicing isoforms for
ABRAXAS2

Expression for ABRAXAS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABRAXAS2 Gene:

ABRAXAS2

mRNA Expression by UniProt/SwissProt for ABRAXAS2 Gene:

Q15018-ABRX2_HUMAN
Tissue specificity: Detected in heart muscle (at protein level). Detected in heart and muscle, and at much lower levels in brain (PubMed:21195082).

Evidence on tissue expression from TISSUES for ABRAXAS2 Gene

  • Bone marrow(4.1)
  • Nervous system(2.2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 ABRAXAS2 Gene

Orthologs for ABRAXAS2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABRAXAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM175B 34 33
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM175B 34 33
  • 92.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 91 (a)
OneToMany
FAM175B 34 33
  • 90.92 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam175b 33
  • 91 (n)
mouse
(Mus musculus)
Mammalia Fam175b 34 33
  • 90.44 (n)
OneToOne
Abraxas2 16
oppossum
(Monodelphis domestica)
Mammalia FAM175B 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM175B 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM175B 34 33
  • 81.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM175B 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam175b 33
  • 71.22 (n)
LOC394764 33
zebrafish
(Danio rerio)
Actinopterygii LOC100538340 33
  • 67.26 (n)
fam175b 34
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7469 33
Species where no ortholog for ABRAXAS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABRAXAS2 Gene

ENSEMBL:
Gene Tree for ABRAXAS2 (if available)
TreeFam:
Gene Tree for ABRAXAS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABRAXAS2: view image

Paralogs for ABRAXAS2 Gene

Paralogs for ABRAXAS2 Gene

genes like me logo Genes that share paralogs with ABRAXAS2: view

Variants for ABRAXAS2 Gene

Sequence variations from dbSNP and Humsavar for ABRAXAS2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000067841 -- 124,824,042(+) T/C intron_variant
rs1000091731 -- 124,803,227(+) A/C intron_variant
rs1000124484 -- 124,827,484(+) GG/ intron_variant
rs1000176077 -- 124,831,731(+) T/C intron_variant
rs1000427073 -- 124,827,148(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABRAXAS2 Gene

Variant ID Type Subtype PubMed ID
esv2660881 CNV deletion 23128226
nsv1050837 CNV gain 25217958
nsv832014 CNV loss 17160897

Variation tolerance for ABRAXAS2 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABRAXAS2 Gene

Human Gene Mutation Database (HGMD)
ABRAXAS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABRAXAS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABRAXAS2 Gene

Disorders for ABRAXAS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABRAXAS2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABRAXAS2

genes like me logo Genes that share disorders with ABRAXAS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABRAXAS2 Gene

Publications for ABRAXAS2 Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  2. 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
  3. Higher-Order Assembly of BRCC36-KIAA0157 Is Required for DUB Activity and Biological Function. (PMID: 26344097) Zeqiraj E … Sicheri F (Molecular cell 2015) 3 4 58
  4. ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53. (PMID: 25283148) Zhang J … Yang X (Nature communications 2014) 3 4 58
  5. A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses. (PMID: 24075985) Zheng H … Greenberg RA (Cell reports 2013) 3 4 58

Products for ABRAXAS2 Gene

Sources for ABRAXAS2 Gene

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