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    FANCB Fanconi anemia complementation group B [ Homo sapiens (human) ]

    Gene ID: 2187, updated on 5-Nov-2017
    Official Symbol
    FANCBprovided by HGNC
    Official Full Name
    Fanconi anemia complementation group Bprovided by HGNC
    Primary source
    HGNC:HGNC:3583
    See related
    Ensembl:ENSG00000181544 MIM:300515; Vega:OTTHUMG00000021168
    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
    FA2; FAB; FACB; FAAP90; FAAP95
    Summary
    This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    Xp22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (14690863..14873255, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14861529..14891184, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene glycine receptor alpha 2 Neighboring gene uncharacterized LOC107985686 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 14

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • FA core complex, organism-specific biosystem (from KEGG)
      FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • FA core complex, conserved biosystem (from KEGG)
      FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
    • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    Fanconi anemia group B protein
    Names
    Fanconi anemia-associated polypeptide of 95 kDa

    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_007310.1 RefSeqGene

      Range
      5001..34656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_496

    mRNA and Protein(s)

    1. NM_001018113.2NP_001018123.1  Fanconi anemia group B protein

      See identical proteins and their annotated locations for NP_001018123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3, encode the same protein.
      Source sequence(s)
      AK091383, BP236844
      Consensus CDS
      CCDS14161.1
      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1
      Related
      ENSP00000381378.1, ENST00000398334.5
    2. NM_001324162.1NP_001311091.1  Fanconi anemia group B protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3, encode the same protein.
      Source sequence(s)
      AC140846
      Consensus CDS
      CCDS14161.1
      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1
    3. NM_152633.3NP_689846.1  Fanconi anemia group B protein

      See identical proteins and their annotated locations for NP_689846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3, encode the same protein.
      Source sequence(s)
      AK091383
      Consensus CDS
      CCDS14161.1
      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1
      Related
      ENSP00000326819.3, OTTHUMP00000022953, ENST00000324138.7, OTTHUMT00000055835

    RNA

    1. NR_136707.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple 3' exons and terminates at an internal polyA site compared to variant 1. This variant is represented as non-coding because initiation of transcription from the expected start codon would result in an ORF without a stop codon and render the transcript a candidate for non-stop decay.
      Source sequence(s)
      AK091383, BC055411, CA433787

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      14690863..14873255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545470.2XP_011543772.1  Fanconi anemia group B protein isoform X1

    2. XM_017029356.1XP_016884845.1  Fanconi anemia group B protein isoform X3

    3. XM_017029355.1XP_016884844.1  Fanconi anemia group B protein isoform X2

      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1

    RNA

    1. XR_001755672.1 RNA Sequence

    2. XR_001755674.1 RNA Sequence

    3. XR_001755673.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      14891941..14921601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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