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    ABRAXAS2 abraxas 2, BRISC complex subunit [ Homo sapiens (human) ]

    Gene ID: 23172, updated on 5-May-2024

    Summary

    Official Symbol
    ABRAXAS2provided by HGNC
    Official Full Name
    abraxas 2, BRISC complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:28975
    See related
    Ensembl:ENSG00000165660 MIM:611144; AllianceGenome:HGNC:28975
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABRO1; FAM175B; KIAA0157
    Summary
    Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in several processes, including mitotic spindle assembly; protein K63-linked deubiquitination; and response to ischemia. Located in cytoplasm. Part of BRISC complex. Colocalizes with microtubule minus-end; midbody; and spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.5), lymph node (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABRAXAS2 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (124801819..124836667)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (125682874..125717721)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126490388..126525236)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 53 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126393799-126394390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126397487-126398205 Neighboring gene Sharpr-MPRA regulatory region 10105 Neighboring gene FAM53B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126412727-126413693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126421434-126421976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4185 Neighboring gene EEF1A lysine methyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126480408-126481132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126481133-126481855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126489987-126490541 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:126490542-126491095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126553027-126553526 Neighboring gene nucleophosmin 1 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2922 Neighboring gene zinc finger RANBP2-type containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4189 Neighboring gene C-terminal binding protein 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22338, KIAA0157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in attachment of spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K63-linked deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein K63-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to ischemia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BRISC complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with microtubule minus-end IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with spindle pole centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BRISC complex subunit Abraxas 2
    Names
    BRISC complex subunit Abro1
    abraxas brother 1
    abraxas brother protein 1
    family with sequence similarity 175 member B

    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.

    mRNA and Protein(s)

    1. NM_032182.4NP_115558.3  BRISC complex subunit Abraxas 2

      See identical proteins and their annotated locations for NP_115558.3

      Status: VALIDATED

      Source sequence(s)
      AC068896
      Consensus CDS
      CCDS31308.2
      UniProtKB/Swiss-Prot
      B4DKR2, Q15018, Q96H11
      Related
      ENSP00000298492.5, ENST00000298492.6

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      124801819..124836667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424891.1XP_047280847.1  BRISC complex subunit Abraxas 2 isoform X1

    2. XM_047424888.1XP_047280844.1  BRISC complex subunit Abraxas 2 isoform X1

    3. XM_047424889.1XP_047280845.1  BRISC complex subunit Abraxas 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      125682874..125717721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365319.1XP_054221294.1  BRISC complex subunit Abraxas 2 isoform X1

    2. XM_054365317.1XP_054221292.1  BRISC complex subunit Abraxas 2 isoform X1

    3. XM_054365318.1XP_054221293.1  BRISC complex subunit Abraxas 2 isoform X1