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

    Gene ID: 2177, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:3585
    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
    mouse all
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    Genomic context

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    See FANCD2 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (10026437..10101932)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (10018435..10094151)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10068121..10143616)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MARK2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10066312-10066948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10067584-10068219 Neighboring gene CIDEC pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10068220-10068854 Neighboring gene 3p25 FANCD2 Alu-mediated recombination region Neighboring gene RNA, U6 small nuclear 670, pseudogene Neighboring gene CYCS pseudogene 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10111907-10112871 Neighboring gene FANCD2 opposite strand Neighboring gene NANOG hESC enhancer GRCh37_chr3:10138555-10139102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19417 Neighboring gene 3p25 BRK1 Alu-mediated recombination region Neighboring gene BRICK1 subunit of SCAR/WAVE actin nucleating complex Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Smetsers S, et al. Fam Cancer, 2012 Dec. PMID 22829014
    2. FANCD2 is a target for caspase 3 during DNA damage-induced apoptosis. Sakai W, et al. FEBS Lett, 2014 Oct 16. PMID 25176410
    3. FANCD2 re-expression is associated with glioma grade and chemical inhibition of the Fanconi Anaemia pathway sensitises gliomas to chemotherapeutic agents. Patil AA, et al. Oncotarget, 2014 Aug 15. PMID 25071006, Free PMC Article
    4. FANCD2 is a potential therapeutic target and biomarker in alveolar rhabdomyosarcoma harboring the PAX3-FOXO1 fusion gene. Singh M, et al. Clin Cancer Res, 2014 Jul 15. PMID 24787670, Free PMC Article
    5. Radiation-induced mitotic catastrophe in FANCD2 primary fibroblasts. Leskovac A, et al. Int J Radiat Biol, 2014 May. PMID 24512567

    See all (348) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.
      Title: FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.
    2. FANCD2 counteracts O[6]-methylguanine-induced mismatch repair-dependent apoptosis.
      Title: FANCD2 counteracts O(6)-methylguanine-induced mismatch repair-dependent apoptosis.
    3. FANCD2-FANCI surveys DNA and recognizes double- to single-stranded junctions.
      Title: FANCD2-FANCI surveys DNA and recognizes double- to single-stranded junctions.
    4. Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival.
      Title: Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival.
    5. FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
      Title: FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
    6. Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.
      Title: Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.
    7. FANCD2-dependent mitotic DNA synthesis relies on PCNA K164 ubiquitination.
      Title: FANCD2-dependent mitotic DNA synthesis relies on PCNA K164 ubiquitination.
    8. FANCD2 as a novel prognostic biomarker correlated with immune and drug therapy in Hepatitis B-related hepatocellular carcinoma.
      Title: FANCD2 as a novel prognostic biomarker correlated with immune and drug therapy in Hepatitis B-related hepatocellular carcinoma.
    9. FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress.
      Title: FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress.
    10. FANCD2 and RAD51 recombinase directly inhibit DNA2 nuclease at stalled replication forks and FANCD2 acts as a novel RAD51 mediator in strand exchange to promote genome stability.
      Title: FANCD2 and RAD51 recombinase directly inhibit DNA2 nuclease at stalled replication forks and FANCD2 acts as a novel RAD51 mediator in strand exchange to promote genome stability.
    Submit: New GeneRIF Correction See all GeneRIFs (184)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fanconi anemia complementation group D2
    MedGen: C3160738 OMIM: 227646 GeneReviews: Fanconi Anemia
    		not available

    EBI GWAS Catalog

    Description
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair involved in meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamete generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in interstrand cross-link repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuronal stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of CD40 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of regulatory T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA repair complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in condensed chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001018115.3 → NP_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
      Q2LA86, Q69YP9, Q6PJN7, Q9BQ06, Q9BXW9, Q9H9T9
      Related
      ENSP00000502379.1, ENST00000675286.1
      Conserved Domains (1) summary
      pfam14631
      Location:35 → 1415
      FancD2; Fanconi anaemia protein FancD2 nuclease

    2. NM_001319984.2 → NP_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
      Q2LA86, Q69YP9, Q6PJN7, Q9BQ06, Q9BXW9, Q9H9T9
      Related
      ENSP00000398754.1, ENST00000419585.5
      Conserved Domains (1) summary
      pfam14631
      Location:35 → 1415
      FancD2; Fanconi anaemia protein FancD2 nuclease

    3. NM_001374253.1 → NP_001361182.1  Fanconi anemia group D2 protein isoform c

      Status: REVIEWED

      Source sequence(s)
      AC034193
      UniProtKB/TrEMBL
      A0A6Q8PFY3
      Related
      ENSP00000501999.1, ENST00000676013.1
      Conserved Domains (1) summary
      pfam14631
      Location:1 → 1378
      FancD2; Fanconi anaemia protein FancD2 nuclease

    4. NM_001374254.1 → NP_001361183.1  Fanconi anemia group D2 protein isoform d

      Status: REVIEWED

      Source sequence(s)
      AC034193
      Conserved Domains (1) summary
      pfam14631
      Location:1 → 1402
      FancD2; Fanconi anaemia protein FancD2 nuclease

    5. NM_001374255.1 → NP_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:1 → 231
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    6. NM_033084.6 → NP_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:35 → 1415
      FancD2; Fanconi anaemia protein FancD2 nuclease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      10018435..10094151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXW9.2 GenPept UniProtKB/Swiss-Prot:Q9BXW9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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