CFAP52

Chr 17AR

cilia and flagella associated protein 52

Also known as: HTX10, WDR16, WDRPUH

NCBI Gene: 146845 ENSG00000166596 UniProt: Q8N1V2 OMIM: 609804

The protein is a microtubule inner protein that is part of dynein-decorated doublet microtubules in cilia axoneme and is important for proper ciliary and flagellar beating. Mutations cause autosomal recessive heterotaxy with visceral organ malposition and male infertility due to defective sperm flagellar function. This gene shows low constraint against loss-of-function variants (LOEUF 1.242), affecting both embryonic left-right patterning through motile cilia dysfunction and reproductive function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.241 OMIM phenotype

Clinical Summary— CFAP52

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

5 unique Pathogenic / Likely Pathogenic· 105 VUS of 174 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?

1.24LOEUF

pLI 0.000

Z-score 0.48

OE 0.91 (0.67–1.24)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.18Z-score

OE missense 0.97 (0.89–1.06)

355 obs / 364.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.91 (0.67–1.24)

0≤0.351.4

Missense OE?0.97 (0.89–1.06)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 28 / 30.9Missense obs/exp: 355 / 364.6Syn Z: 0.33

ClinVar Variant Classifications

174 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic4

VUS105

Likely Benign27

Benign15

Conflicting4

Pathogenic

Likely Pathogenic

105

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	1	0	1
Likely Pathogenic	4	0	0	0	4
VUS	4	100	1	0	105
Likely Benign	0	4	2	21	27
Benign	0	1	6	8	15
Conflicting	—				4
Total	8	105	10	29	156

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap CFAP52 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →