DCAF17

Chr 2AR

DDB1 and CUL4 associated factor 17

Also known as: C20orf37, C2orf37

NCBI Gene: 80067ENSG00000115827UniProt: Q5H9S7OMIM: 612515

The protein is a nuclear transmembrane protein that associates with the cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations cause Woodhouse-Sakati syndrome, inherited in an autosomal recessive pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.821 OMIM phenotype
Clinical Summary— DCAF17
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Gene-Disease Validity (ClinGen)
Woodhouse-Sakati syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 88 VUS of 317 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.82LOEUF
pLI 0.000
Z-score 2.30
OE 0.53 (0.35–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.82Z-score
OE missense 0.86 (0.77–0.96)
230 obs / 267.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.53 (0.35–0.82)
0≤0.351.4
Missense OE0.86 (0.77–0.96)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 15 / 28.2Missense obs/exp: 230 / 267.5Syn Z: 0.56

ClinVar Variant Classifications

317 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic5
VUS88
Likely Benign148
Benign37
Conflicting8
31
Pathogenic
5
Likely Pathogenic
88
VUS
148
Likely Benign
37
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
1
14
0
31
Likely Pathogenic
4
1
0
0
5
VUS
1
53
34
0
88
Likely Benign
0
2
76
70
148
Benign
0
1
35
1
37
Conflicting
—8
Total215815971317

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DCAF17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
Kurnaz E et al.·J Pediatr Endocrinol Metab
2019Review
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.
Kumari R et al.·J Neuroendocrinol
2022Case report
Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
Gurbuz F et al.·Clin Genet
2018Functional
Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
Fozia F et al.·J Clin Lab Anal
2022Case report
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Tello C et al.·Clin Genet
2018Review
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients