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Gene

DCAF17

DDB1 and CUL4 associated factor 17

Summary

Cytogenetic location
2q31.1
Coordinates
Chromosome 2: 171,434,226–171,485,052 (GRCh38)
Exons
14 exons across 50.8 kb
Protein
520 amino acids
Also known as
FLJ13096
Previous symbols
C2orf37
MANE Select transcript
ENST00000375255.8NM_025000.4
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

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

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

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

  • Neurodegeneration with Brain Iron Accumulation (NBIA)

    • Neurodegeneration with Brain Iron Accumulation

      A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.

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

      Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

How DCAF17 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where DCAF17 sits. DCAF17 and 7 genes near it on chromosome 2, from 170,959,639 to 171,959,638.Chromosome 22q31.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3171 Mb171.2 Mb171.4 Mb171.6 Mb171.8 MbGORASP2: 170,928,464–170,967,135, forward strandGORASP2TLK1: 170,990,823–171,231,314, reverse strandTLK1METTL8: 171,315,746–171,434,802, reverse strandMETTL8DCAF17: 171,434,226–171,485,052, forward strandDCAF17CYBRD1: 171,522,247–171,558,133, forward strandCYBRD1DYNC1I2: 171,687,409–171,750,179, forward strandDYNC1I2SLC25A12: 171,781,168–171,999,859, reverse strandSLC25A12HAT1: 171,922,404–171,986,773, forward strandHAT1Diagram of DCAF17: 14 exons on the forward strand of chromosome 2Exon 1: 4 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 1: 171,434,226–171,434,703, 478 basesExon 2: 171,435,083–171,435,186, 104 basesExon 3: 171,443,523–171,443,613, 91 basesExon 4: 171,448,681–171,448,817, 137 basesExon 5: 171,449,879–171,449,957, 79 basesExon 6: 171,453,124–171,453,213, 90 basesExon 7: 171,457,971–171,458,075, 105 basesExon 8: 171,458,372–171,458,477, 106 basesExon 9: 171,468,888–171,469,030, 143 basesExon 10: 171,473,866–171,473,975, 110 basesExon 11: 171,476,860–171,476,950, 91 basesExon 12: 171,477,987–171,478,070, 84 basesExon 13: 171,480,038–171,480,193, 156 basesExon 14: 171,480,974–171,485,052, 4,079 bases1510145′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 5.9 kb of the gene's 50.8 kb; 1,563 of those bases code for the protein.

How a genome test reads DCAF17

46

positions in DCAF17 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 50.8 kb of DCAF17, introns included, not only the 5.9 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.). DCAF17 gene: DDB1 and CUL4 associated factor 17. Retrieved 16 October 2026, from https://dantelabs.com/genes/dcaf17

Vancouver

Dante Labs. DCAF17 gene: DDB1 and CUL4 associated factor 17 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dcaf17

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