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    FANCD2 FA complementation group D2 [ Homo sapiens (human) ]

    Gene ID: 2177, updated on 8-Jul-2021

    Summary

    Official Symbol
    FANCD2provided by HGNC
    Official Full Name
    FA complementation group D2provided by HGNC
    Primary source
    HGNC:HGNC:3585
    See related
    Ensembl:ENSG00000144554 MIM:613984
    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
    FA4; FAD; FACD; FAD2; FA-D2; FANCD
    Summary
    The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in testis (RPKM 7.7), bone marrow (RPKM 6.2) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FANCD2 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (10026437..10101932)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10068121..10143616)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 2 Neighboring gene cell death inducing DFFA like effector c pseudogene 1 Neighboring gene 3p25 FANCD2 Alu-mediated recombination region Neighboring gene RNA, U6 small nuclear 670, pseudogene Neighboring gene CYCS pseudogene 11 Neighboring gene FANCD2 opposite strand Neighboring gene 3p25 BRK1 Alu-mediated recombination region Neighboring gene BRICK1 subunit of SCAR/WAVE actin nucleating complex Neighboring gene 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region Neighboring gene von Hippel-Lindau tumor suppressor

    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

    Associated conditions

    Description Tests
    Fanconi anemia, complementation group D2 Compare labs
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr overexpression increases FANCD2 focus formation compared to results seen with the empty vector control PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23826, DKFZp762A223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair involved in meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in condensed chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Fanconi anemia group D2 protein
    Names
    Fanconi anemia complementation group D2

    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_007311.1 RefSeqGene

      Range
      5001..80502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_306

    mRNA and Protein(s)

    1. NM_001018115.3NP_001018125.1  Fanconi anemia group D2 protein isoform b

      See identical proteins and their annotated locations for NP_001018125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform b which has a shorter and distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC034193
      Consensus CDS
      CCDS33696.1
      UniProtKB/Swiss-Prot
      Q9BXW9
      UniProtKB/TrEMBL
      A0A024R2G2
      Related
      ENSP00000502379.1, ENST00000675286.1
      Conserved Domains (1) summary
      pfam14631
      Location:351415
      FancD2; Fanconi anaemia protein FancD2 nuclease
    2. NM_001319984.2NP_001306913.1  Fanconi anemia group D2 protein isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has different 5' and 3' structures, compared to variant 1. It encodes isoform b which has a shorter and distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC034193, BC038666, BU617044, DA749163
      Consensus CDS
      CCDS33696.1
      UniProtKB/Swiss-Prot
      Q9BXW9
      UniProtKB/TrEMBL
      A0A024R2G2
      Related
      ENSP00000398754.1, ENST00000419585.5
      Conserved Domains (1) summary
      pfam14631
      Location:351415
      FancD2; Fanconi anaemia protein FancD2 nuclease
    3. NM_001374253.1NP_001361182.1  Fanconi anemia group D2 protein isoform c

      Status: REVIEWED

      Source sequence(s)
      AC034193
      Related
      ENSP00000501999.1, ENST00000676013.1
      Conserved Domains (1) summary
      pfam14631
      Location:11378
      FancD2; Fanconi anaemia protein FancD2 nuclease
    4. NM_001374254.1NP_001361183.1  Fanconi anemia group D2 protein isoform d

      Status: REVIEWED

      Source sequence(s)
      AC034193
      Conserved Domains (1) summary
      pfam14631
      Location:11402
      FancD2; Fanconi anaemia protein FancD2 nuclease
    5. NM_001374255.1NP_001361184.1  Fanconi anemia group D2 protein isoform e

      Status: REVIEWED

      Source sequence(s)
      AC034193
      Related
      ENSP00000399354.1, ENST00000431693.1
      Conserved Domains (1) summary
      cl17018
      Location:1231
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2
    6. NM_033084.6NP_149075.2  Fanconi anemia group D2 protein isoform a

      See identical proteins and their annotated locations for NP_149075.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC034193
      Consensus CDS
      CCDS2595.1
      UniProtKB/Swiss-Prot
      Q9BXW9
      Related
      ENSP00000287647.3, ENST00000287647.7
      Conserved Domains (1) summary
      pfam14631
      Location:351415
      FancD2; Fanconi anaemia protein FancD2 nuclease

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      10026437..10101932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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