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Gene

FANCD2

FA complementation group D2

Summary

Cytogenetic location
3p25.3
Coordinates
Chromosome 3: 10,026,437–10,101,932 (GRCh38)
Exons
44 exons across 75.5 kb
Protein
1,451 amino acids
Inheritance
Autosomal recessive
Also known as
FAD, FA-D2
Previous symbols
FACD, FANCD
MANE Select transcript
ENST00000675286.1NM_001018115.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

  • Fanconi Anemia

    • Autosomal recessive

      Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How FANCD2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where FANCD2 sits. FANCD2 and 28 genes near it on chromosome 3, from 9,564,185 to 10,564,184.Chromosome 33p25.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q299.6 Mb9.8 Mb10 Mb10.2 Mb10.4 MbMTMR14: 9,649,307–9,702,394, forward strandMTMR14CPNE9: 9,703,691–9,729,908, forward strandCPNE9BRPF1: 9,731,726–9,748,019, forward strandBRPF1OGG1: 9,749,938–9,791,067, forward strandOGG1CAMK1: 9,757,341–9,770,606, reverse strandTADA3: 9,779,964–9,793,011, reverse strandARPC4: 9,792,484–9,807,704, forward strandARPC4ARPC4-TTLL3: 9,793,082–9,835,401, forward strandARPC4-TTLL3TTLL3: 9,808,086–9,856,087, forward strandTTLL3RPUSD3: 9,831,633–9,844,602, reverse strandRPUSD3CIDEC: 9,864,169–9,891,008, reverse strandCIDECJAGN1: 9,890,569–9,894,349, forward strandJAGN1IL17RE: 9,902,612–9,916,402, forward strandIL17RC: 9,917,040–9,933,630, forward strandIL17RC: 9,917,116–9,945,385, forward strandCRELD1: 9,933,791–9,945,413, forward strandCRELD1PRRT3: 9,939,450–9,952,442, reverse strandPRRT3EMC3: 9,957,217–10,011,202, reverse strandEMC3FANCD2: 10,026,437–10,101,932, forward strandFANCD2FANCD2OS: 10,081,317–10,108,290, reverse strandFANCD2OSBRK1: 10,115,590–10,135,082, forward strandBRK1VHL: 10,141,764–10,153,676, forward strandVHLIRAK2: 10,164,862–10,243,756, forward strandIRAK2TATDN2: 10,248,023–10,281,218, forward strandTATDN2: 10,249,042–10,249,366, forward strand: 10,249,372–10,285,796, forward strandGHRL: 10,285,666–10,292,959, reverse strandGHRLSEC13: 10,293,131–10,321,207, reverse strandSEC13ATP2B2: 10,324,023–10,708,060, reverse strandATP2B2Diagram of FANCD2: 44 exons on the forward strand of chromosome 3Exon 2: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 21: 8 known disease-causing sitesExon 22: 1 known disease-causing siteExon 23: 10 known disease-causing sitesExon 24: 1 known disease-causing siteExon 25: 3 known disease-causing sitesExon 26: 7 known disease-causing sitesExon 27: 2 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 29: 12 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 31: 7 known disease-causing sitesExon 32: 4 known disease-causing sitesExon 33: 10 known disease-causing sitesExon 34: 4 known disease-causing sitesExon 35: 7 known disease-causing sitesExon 36: 2 known disease-causing sitesExon 37: 4 known disease-causing sitesExon 38: 4 known disease-causing sitesExon 40: 4 known disease-causing sitesExon 41: 1 known disease-causing siteExon 42: 7 known disease-causing sitesExon 1: 10,026,437–10,026,473, 37 basesExon 2: 10,028,625–10,028,721, 97 basesExon 3: 10,032,832–10,032,972, 141 basesExon 4: 10,034,469–10,034,536, 68 basesExon 5: 10,034,695–10,034,798, 104 basesExon 6: 10,035,173–10,035,233, 61 basesExon 7: 10,036,287–10,036,339, 53 basesExon 8: 10,039,279–10,039,357, 79 basesExon 9: 10,039,721–10,039,845, 125 basesExon 10: 10,041,623–10,041,710, 88 basesExon 11: 10,042,559–10,042,663, 105 basesExon 12: 10,043,050–10,043,150, 101 basesExon 13: 10,043,484–10,043,592, 109 basesExon 14: 10,043,829–10,043,864, 36 basesExon 15: 10,046,580–10,046,723, 144 basesExon 16: 10,047,917–10,048,051, 135 basesExon 17: 10,049,374–10,049,505, 132 basesExon 18: 10,052,387–10,052,497, 111 basesExon 19: 10,060,294–10,060,403, 110 basesExon 20: 10,062,151–10,062,211, 61 basesExon 21: 10,063,792–10,063,911, 120 basesExon 22: 10,064,356–10,064,429, 74 basesExon 23: 10,064,729–10,064,875, 147 basesExon 24: 10,065,394–10,065,494, 101 basesExon 25: 10,065,864–10,065,979, 116 basesExon 26: 10,067,209–10,067,317, 109 basesExon 27: 10,072,871–10,072,981, 111 basesExon 28: 10,073,253–10,073,362, 110 basesExon 29: 10,074,530–10,074,673, 144 basesExon 30: 10,078,081–10,078,197, 117 basesExon 31: 10,081,100–10,081,228, 129 basesExon 32: 10,081,346–10,081,464, 119 basesExon 33: 10,085,812–10,085,922, 111 basesExon 34: 10,087,134–10,087,264, 131 basesExon 35: 10,088,449–10,088,542, 94 basesExon 36: 10,088,828–10,088,950, 123 basesExon 37: 10,090,292–10,090,385, 94 basesExon 38: 10,092,181–10,092,252, 72 basesExon 39: 10,093,285–10,093,323, 39 basesExon 40: 10,094,289–10,094,363, 75 basesExon 41: 10,095,200–10,095,274, 75 basesExon 42: 10,096,326–10,096,472, 147 basesExon 43: 10,098,720–10,098,815, 96 basesExon 44: 10,101,188–10,101,932, 745 bases1510152025303540445′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.1 kb of the gene's 75.5 kb; 4,356 of those bases code for the protein.

How a genome test reads FANCD2

252

positions in FANCD2 where ClinVar classes a change as pathogenic or likely pathogenic

99 of them (39%) fall in regions short reads find hard.

  • Low mappability (38 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (99 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 75.5 kb of FANCD2, introns included, not only the 5.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FANCD2 gene: FA complementation group D2. Retrieved 16 October 2026, from https://dantelabs.com/genes/fancd2

Vancouver

Dante Labs. FANCD2 gene: FA complementation group D2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fancd2

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