HYDIN

Chr 16

HYDIN axonemal central pair apparatus protein

Also known as: CILD5, HYDIN1, PPP1R31

NCBI Gene: 54768ENSG00000157423UniProt: Q4G0P3

The protein is required for ciliary motility and maintains proper cilia function. Mutations cause autosomal recessive primary ciliary dyskinesia-5, characterized by accumulation of cerebrospinal fluid within the brain ventricles. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.505).

GeneReviewsResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismLOEUF 0.51
Clinical Summary— HYDIN
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Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 5 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
66 unique Pathogenic / Likely Pathogenic· 326 VUS of 600 total submissions
Explore recent and relevant literature in Research Assistant →
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GeneReview available — HYDIN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.51LOEUF
pLI 0.000
Z-score 7.14
OE 0.42 (0.34–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.81Z-score
OE missense 0.95 (0.92–0.99)
1990 obs / 2094.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.42 (0.34–0.51)
0≤0.351.4
Missense OE0.95 (0.92–0.99)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 72 / 173.5Missense obs/exp: 1990 / 2094.3Syn Z: -0.97
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveHYDIN-related primary ciliary dyskinesiaLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6745th %ile
GOF
0.4578th %ile
LOF
0.3551th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

600 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic41
VUS326
Likely Benign167
Benign8
Conflicting10
25
Pathogenic
41
Likely Pathogenic
326
VUS
167
Likely Benign
8
Benign
10
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
0
7
0
25
Likely Pathogenic
38
2
1
0
41
VUS
6
296
20
4
326
Likely Benign
1
56
10
100
167
Benign
0
3
3
2
8
Conflicting
—10
Total6335741106577

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

View in ClinVar →

Protein Context — Lollipop Plot

HYDIN · 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 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
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