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Aliases for HYDIN Gene

Aliases for HYDIN Gene

  • HYDIN, Axonemal Central Pair Apparatus Protein 2 3
  • HYDIN1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 31 3
  • Hydrocephalus Inducing Homolog (Mouse) 2
  • Hydrocephalus Inducing 2
  • Protein Phosphatase 1 2
  • Regulatory Subunit 31 2
  • KIAA1864 4
  • PPP1R31 3
  • HYDIN2 3
  • CILD5 3

External Ids for HYDIN Gene

Previous GeneCards Identifiers for HYDIN Gene

  • GC16M070576
  • GC16M070617
  • GC16M069576
  • GC16M069618
  • GC16M069400

Summaries for HYDIN Gene

Entrez Gene Summary for HYDIN Gene

  • This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

GeneCards Summary for HYDIN Gene

HYDIN (HYDIN, Axonemal Central Pair Apparatus Protein) is a Protein Coding gene. Diseases associated with HYDIN include primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia and ciliary dyskinesia, primary, 5. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for HYDIN Gene

  • Required for ciliary motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYDIN Gene

Genomics for HYDIN Gene

Regulatory Elements for HYDIN Gene

Genomic Location for HYDIN Gene

70,802,084 bp from pter
71,230,722 bp from pter
428,639 bases
Minus strand

Genomic View for HYDIN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HYDIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYDIN Gene

Proteins for HYDIN Gene

  • Protein details for HYDIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hydrocephalus-inducing protein homolog
    Protein Accession:
    Secondary Accessions:
    • A6NC70
    • A6NLZ0
    • B4DQY4
    • B4DRN4
    • F5H6V3
    • Q8N3H8
    • Q8N3P6
    • Q8TC08
    • Q96JG3
    • Q96SS4
    • Q9H5U3
    • Q9H9B8
    • Q9NTI0
    • Q9UBE5

    Protein attributes for HYDIN Gene

    5121 amino acids
    Molecular mass:
    575892 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH28351.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15527.1; Type=Frameshift; Positions=4804; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HYDIN Gene

    Alternative splice isoforms for HYDIN Gene

neXtProt entry for HYDIN Gene

Proteomics data for HYDIN Gene at MOPED

Post-translational modifications for HYDIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HYDIN Gene

Domains & Families for HYDIN Gene

Gene Families for HYDIN Gene

Protein Domains for HYDIN Gene


Suggested Antigen Peptide Sequences for HYDIN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HYDIN: view

No data available for UniProtKB/Swiss-Prot for HYDIN Gene

Function for HYDIN Gene

Molecular function for HYDIN Gene

UniProtKB/Swiss-Prot Function:
Required for ciliary motility.
genes like me logo Genes that share phenotypes with HYDIN: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HYDIN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HYDIN Gene

Localization for HYDIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYDIN Gene

Cell projection, cilium.

Subcellular locations from

Jensen Localization Image for HYDIN Gene COMPARTMENTS Subcellular localization image for HYDIN gene
Compartment Confidence
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium --
GO:1990718 axonemal central pair projection IEA --
genes like me logo Genes that share ontologies with HYDIN: view

Pathways & Interactions for HYDIN Gene

SuperPathways for HYDIN Gene

No Data Available

Interacting Proteins for HYDIN Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000314736 for HYDIN Gene via STRING

Gene Ontology (GO) - Biological Process for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002064 epithelial cell development IEA --
GO:0003341 cilium movement IEA --
GO:0007275 multicellular organismal development --
GO:0021591 ventricular system development IEA --
GO:0035082 axoneme assembly IEA --
genes like me logo Genes that share ontologies with HYDIN: view

No data available for Pathways by source and SIGNOR curated interactions for HYDIN Gene

Drugs & Compounds for HYDIN Gene

No Compound Related Data Available

Transcripts for HYDIN Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HYDIN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HYDIN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1: - - - -
SP2: - - -
SP7: -

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26
SP1: - -
SP3: - - - -
SP6: - -

Relevant External Links for HYDIN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HYDIN Gene

mRNA expression in normal human tissues for HYDIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYDIN Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for HYDIN Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (24.5) and Adrenal (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HYDIN Gene

SOURCE GeneReport for Unigene cluster for HYDIN Gene Hs.461229

genes like me logo Genes that share expression patterns with HYDIN: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HYDIN Gene

Orthologs for HYDIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for HYDIN Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HYDIN 35
  • 84.39 (n)
  • 80.19 (a)
-- 36
  • 80 (a)
(Canis familiaris)
Mammalia HYDIN 35
  • 85.07 (n)
  • 82.26 (a)
-- 36
  • 82 (a)
(Mus musculus)
Mammalia Hydin 35
  • 80.78 (n)
  • 78.05 (a)
Hydin 16
Hydin 36
  • 76 (a)
(Pan troglodytes)
Mammalia HYDIN 35
  • 99.32 (n)
  • 99 (a)
-- 36
  • 99 (a)
-- 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Hydin 35
  • 80.95 (n)
  • 78.21 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
-- 36
  • 56 (a)
-- 36
  • 60 (a)
-- 36
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
-- 36
  • 67 (a)
-- 36
  • 60 (a)
-- 36
  • 66 (a)
-- 36
  • 44 (a)
-- 36
  • 62 (a)
-- 36
  • 69 (a)
(Gallus gallus)
Aves HYDIN 35
  • 61.61 (n)
  • 53.63 (a)
-- 36
  • 51 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hydin 35
  • 58.62 (n)
  • 53.5 (a)
(Danio rerio)
Actinopterygii hydin 35
  • 54.69 (n)
  • 45.89 (a)
hydin 36
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for HYDIN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HYDIN Gene

Gene Tree for HYDIN (if available)
Gene Tree for HYDIN (if available)

Paralogs for HYDIN Gene Pseudogenes for HYDIN Gene

genes like me logo Genes that share paralogs with HYDIN: view

No data available for Paralogs for HYDIN Gene

Variants for HYDIN Gene

Sequence variations from dbSNP and Humsavar for HYDIN Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs171012 -- 71,201,828(-) GATGA(C/T)ACTTG intron-variant
rs171013 -- 71,215,117(-) ccctg(C/T)aagtt intron-variant
rs171014 -- 71,212,397(-) AGTCA(A/T)TCCTT intron-variant
rs195612 -- 71,017,870(+) CAAAA(A/T)TAAAG intron-variant
rs1512596 -- 71,046,040(+) AAATA(A/C)AAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HYDIN Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
dgv897e1 CNV Complex 17122850
esv2446050 CNV Gain 19546169
nsv819929 CNV Insertion 19587683
esv27528 CNV Gain+Loss 19812545
nsv513453 CNV Insertion 21212237
nsv103278 CNV Loss 16902084
nsv817736 CNV Gain 17921354
esv2714674 CNV Deletion 23290073
nsv906891 CNV Gain 21882294
nsv103320 CNV Loss 16902084
nsv1857 CNV Loss 18451855
nsv511573 CNV Loss 21212237
esv2714675 CNV Deletion 23290073
esv1000229 CNV Deletion 20482838
esv2190080 CNV Deletion 18987734
nsv512443 CNV Loss 21212237
esv2714676 CNV Deletion 23290073
esv8826 CNV Loss 19470904
nsv103129 CNV Loss 16902084
nsv514811 CNV Gain 21397061
esv1004290 CNV Insertion 20482838
esv8659 CNV Gain 19470904
nsv1858 CNV Insertion 18451855
esv2603903 CNV Deletion 19546169
esv2714677 CNV Deletion 23290073
esv993690 CNV Insertion 20482838
esv268722 CNV Insertion 20981092
esv273207 CNV Insertion 20981092
esv2628681 CNV Insertion 19546169
esv269921 CNV Insertion 20981092
esv273571 CNV Insertion 20981092
esv270588 CNV Insertion 20981092
esv272779 CNV Insertion 20981092
esv9491 OTHER Inversion 19470904
esv268326 CNV Insertion 20981092
esv2539613 CNV Deletion 19546169
esv2714678 CNV Deletion 23290073
esv2325464 CNV Deletion 18987734
esv1000045 CNV Deletion 20482838
esv2714679 CNV Deletion 23290073
esv9448 CNV Loss 19470904
nsv1859 CNV Loss 18451855
esv1740201 CNV Insertion 17803354

Variation tolerance for HYDIN Gene

Residual Variation Intolerance Score: 97.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 25.59; 99.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HYDIN Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYDIN Gene

Disorders for HYDIN Gene

MalaCards: The human disease database

(10) MalaCards diseases for HYDIN Gene - From: OMIM, ClinVar, GeneTests, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia
ciliary dyskinesia, primary, 5
  • ics5
  • hydrocephalus, nonsyndromic, autosomal recessive
communicating hydrocephalus
  • communicating hydrocephalus [ambiguous]
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
- elite association
Search HYDIN in MalaCards View complete list of genes associated with diseases


  • Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. {ECO:0000269 PubMed:23022101, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HYDIN

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HYDIN: view

No data available for Genatlas for HYDIN Gene

Publications for HYDIN Gene

  1. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (PMID: 23022101) Olbrich H. … Omran H. (Am. J. Hum. Genet. 2012) 2 67
  2. Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. (PMID: 17394468) Hirschner W. … Verleysdonk S. (J. Neurochem. 2007) 23 67
  3. The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules. (PMID: 17683645) Dawe H.R. … Gull K. (BMC Biol. 2007) 23 67
  4. Hydin seek: finding a function in ciliary motility. (PMID: 17296793) Smith E.F. (J. Cell Biol. 2007) 23 67
  5. A 360-kb interchromosomal duplication of the human HYDIN locus. (PMID: 16938426) Doggett N.A. … Han C. (Genomics 2006) 23 67

Products for HYDIN Gene

Sources for HYDIN Gene

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