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

Gene ID: 2177, updated on 6-Nov-2022

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; 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
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Genomic context

See FANCD2 in Genome Data Viewer
Location:
3p25.3
Exon count:
45
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (10026437..10101932)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (10018435..10094151)
105.20220307 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 CIDEC 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 small nucleolar RNA U13

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

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

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 
Component Evidence Code Pubs
part_of DNA repair complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in chromatin IC
Inferred by Curator
more info
PubMed 
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)

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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_001018115.3NP_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, Q9H9T9
    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, Q9H9T9
    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
    UniProtKB/TrEMBL
    A0A6Q8PFY3
    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 Annotation Release 110 details...Open this link in a new tab

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)