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    FANCB FA complementation group B [ Homo sapiens (human) ]

    Gene ID: 2187, updated on 8-Jul-2021

    Summary

    Official Symbol
    FANCBprovided by HGNC
    Official Full Name
    FA complementation group Bprovided by HGNC
    Primary source
    HGNC:HGNC:3583
    See related
    Ensembl:ENSG00000181544 MIM:300515
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FANCB in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (14690863..14873255, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14861527..14891191, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985686 Neighboring gene glycine receptor alpha 2 Neighboring gene Sharpr-MPRA regulatory region 3255 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 14

    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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-06-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-23)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    Fanconi anemia group B protein
    Names
    Fanconi anemia complementation group B
    Fanconi anemia-associated polypeptide of 95 kDa

    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.

    Genomic

    1. NG_007310.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001018113.3NP_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)
      AC140846, AK091383, BP236844
      Consensus CDS
      CCDS14161.1
      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1
      Related
      ENSP00000498215.1, ENST00000650831.1
    2. NM_001324162.2NP_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_152633.4NP_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)
      AC140846, AK091383
      Consensus CDS
      CCDS14161.1
      UniProtKB/Swiss-Prot
      Q8NB91
      UniProtKB/TrEMBL
      A0A024RBW1
      Related
      ENSP00000326819.3, ENST00000324138.7

    RNA

    1. NR_136707.2 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 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_017029355.2XP_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

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