FANCD2 Gene

Alternative Names

  • FANCD2
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OMIM Number

613984

NCBI Gene ID

2177

Uniprot ID

Q9BXW9

Length

75,519 bases

No. of Exons

45

No. of isoforms

4

Protein Name

Fanconi anemia group D2 protein

Molecular Mass

164128 Da

Amino Acid Count

1451

Genomic Location

chr3:10,026,414-10,101,932

Gene Map Locus
3p25.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_033084.4:c.1275_1278+5delinsTTTATUnited Arab EmiratesNC_000003.12:g.10046720_10046728delinsTTTATNM_033084.4:c.1275_1278+5delinsTTTAT; NP_149075.2:p.Tyr425_Leu426delins
NM_033084.6:c.1348A>GLebanonchr3:10047986Uncertain SignificanceBreast CancerNG_007311.1:g.26558A>G; NM_033084.6:c.1348A>G; NP_149075.2:p.Ile450Val145129959456344
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