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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HYDIN
HYDIN axonemal central pair apparatus protein
Chromosome 16 Β· 16q22.2
NCBI Gene: 54768Ensembl: ENSG00000157423.18HGNC: HGNC:19368UniProt: Q4G0P3
42PubMed Papers
21Diseases
0Drugs
68Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ciliumsperm flagellumaxonemal central apparatusaxonemal central apparatus assemblyprimary ciliary dyskinesia 5primary ciliary dyskinesiahypertensionAbnormal sperm morphology
✦AI Summary

HYDIN (axonemal central pair apparatus protein) is essential for ciliary and flagellar motility by maintaining the structural integrity of the axonemal central apparatus 1. HYDIN forms a semicircular chain that encircles the C1 and C2 microtubules within the sperm central apparatus, with its N-terminal half driving C1-C2 connection and C-terminal half providing axial support 1. Mutations in HYDIN cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections, sinusitis, bronchiectasis, and otitis media, typically without situs inversus totalis 2. Notably, HYDIN-mutant PCD patients often display normal ciliary ultrastructure on electron microscopy despite motility defects, distinguishing them from structural ciliary defects 23. Beyond respiratory manifestations, HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk in cardiac development 4. Additionally, HYDIN mutations are the fourth most common genetic cause of PCD in Indian populations 5, and HYDIN mutations in melanoma patients correlate with enhanced immune checkpoint inhibitor efficacy 6. Emerging evidence suggests HYDIN may also influence pain sensitivity through ciliary mechanisms in the choroid plexus-cerebrospinal fluid system 7.

Sources cited
1
HYDIN forms a semicircular chain encircling C1 and C2 microtubules; N-terminal drives C1-C2 connection, C-terminal provides axial support to C2
PMID: 40473901
2
HYDIN mutations cause PCD with sinusitis, otitis media, bronchiectasis, without situs inversus; normal cilia structure possible on electron microscopy
PMID: 28441829
3
HYDIN variants in PCD patients can present with normal ciliary ultrastructure despite motility dysfunction
PMID: 37998386
4
HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk in cardiac development
PMID: 32376282
5
HYDIN is among the four most common genes with pathogenic variants in definite PCD cases in Indian population
PMID: 39004944
6
HYDIN mutations in melanoma correlate with enhanced immune checkpoint inhibitor efficacy and improved survival
PMID: 37595251
7
HYDIN may influence thermal pain response through ciliary motility in choroid plexus-cerebrospinal fluid system
PMID: 24700285
Disease Associationsβ“˜21
primary ciliary dyskinesia 5Open Targets
0.77Strong
primary ciliary dyskinesiaOpen Targets
0.56Moderate
hypertensionOpen Targets
0.35Weak
Abnormal sperm morphologyOpen Targets
0.34Weak
Reduced sperm motilityOpen Targets
0.34Weak
ovarian neoplasmOpen Targets
0.32Weak
scoliosisOpen Targets
0.30Weak
HepatitisOpen Targets
0.29Weak
color vision disorderOpen Targets
0.27Weak
Paroxysmal supraventricular tachycardiaOpen Targets
0.27Weak
glomerulonephritisOpen Targets
0.25Weak
angina pectorisOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
response to antihypertensive drugOpen Targets
0.18Weak
smoking initiationOpen Targets
0.16Weak
intellectual disability, autosomal dominant 43Open Targets
0.12Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
bacterial pneumoniaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.06Suggestive
MASA syndromeOpen Targets
0.03Suggestive
Ciliary dyskinesia, primary, 5UniProt
Pathogenic Variants68
NM_001270974.2(HYDIN):c.3553del (p.Leu1185fs)Likely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜…β˜†β˜†2025β†’ Residue 1185
NM_001270974.2(HYDIN):c.2047G>T (p.Glu683Ter)Pathogenic
Primary ciliary dyskinesia 5
β˜…β˜…β˜†β˜†2025β†’ Residue 683
NM_001270974.2(HYDIN):c.12444-3C>GLikely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜…β˜†β˜†2025
NM_001270974.2(HYDIN):c.12444-1G>ALikely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜…β˜†β˜†2024
NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)Likely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜…β˜†β˜†2022β†’ Residue 3905
NM_001270974.2(HYDIN):c.8677-2A>GLikely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2026
NM_001270974.2(HYDIN):c.6491C>A (p.Ser2164Ter)Pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2026β†’ Residue 2164
NM_001270974.2(HYDIN):c.1330C>T (p.Arg444Ter)Pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2026β†’ Residue 444
NM_001270974.2(HYDIN):c.11908C>T (p.Arg3970Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 3970
NM_001270974.2(HYDIN):c.2616_2617insTGGCACTGAC (p.Leu873delinsTrpHisTer)Pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2025β†’ Residue 873
NM_001270974.2(HYDIN):c.1351C>T (p.Arg451Ter)Pathogenic
Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜†β˜†β˜†2025β†’ Residue 451
NM_001270974.2(HYDIN):c.9979+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001270974.2(HYDIN):c.8674_8675delinsG (p.Gln2892fs)Pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2025β†’ Residue 2892
NM_001270974.2(HYDIN):c.1446+1G>ALikely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2024
NM_001270974.2(HYDIN):c.4866del (p.Pro1623fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1623
NM_001270974.2(HYDIN):c.10243G>T (p.Glu3415Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 3415
NM_001270974.2(HYDIN):c.5004del (p.Val1669fs)Likely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2024β†’ Residue 1669
NM_001270974.2(HYDIN):c.3648del (p.Phe1216fs)Likely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2024β†’ Residue 1216
NM_001270974.2(HYDIN):c.9418-2A>GLikely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2024
NM_001270974.2(HYDIN):c.487C>T (p.Arg163Ter)Likely pathogenic
Primary ciliary dyskinesia 5
β˜…β˜†β˜†β˜†2024β†’ Residue 163
View on ClinVar β†—
Related Genes
RSPH1Protein interaction99%DNAI2Protein interaction96%DRD5Protein interaction83%GTF2IProtein interaction83%UGT2B17Protein interaction83%NPEPPSProtein interaction83%
Tissue Expression6 tissues
Brain
100%
Ovary
64%
Lung
25%
Liver
13%
Heart
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
HYDINRSPH1DNAI2DRD5GTF2IUGT2B17NPEPPS
PROTEIN STRUCTURE
Preparing viewer…
PDB2E6J Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.47 [0.40–0.56]
RankingsWhere HYDIN stands among ~20K protein-coding genes
  • #9,884of 20,598
    Most Researched42
  • #1,072of 5,498
    Most Pathogenic Variants68 Β· top quartile
  • #3,583of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedHYDIN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
[Primary ciliary dyskinesia with HYDIN gene mutations in a child and literature review].
PMID: 28441829
Zhonghua Er Ke Za Zhi Β· 2017
1.00
2
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
PMID: 39004944
Clin Genet Β· 2024
0.90
3
HYDIN mutation status as a potential predictor of immune checkpoint inhibitor efficacy in melanoma.
PMID: 37595251
Aging (Albany NY) Β· 2023
0.80
4
In situ structure of the mouse sperm central apparatus reveals mechanistic insights into asthenozoospermia.
PMID: 40473901
Cell Res Β· 2025
0.70
5
Precise genetic mapping and integrative bioinformatics in Diversity Outbred mice reveals Hydin as a novel pain gene.
PMID: 24700285
Mamm Genome Β· 2014
0.60