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Aliases for HYDIN Gene

Aliases for HYDIN Gene

  • HYDIN, Axonemal Central Pair Apparatus Protein 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 31 2 3
  • HYDIN1 3 4
  • Hydrocephalus Inducing Homolog (Mouse) 2
  • Hydrocephalus-Inducing Protein Homolog 3
  • Hydrocephalus Inducing 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 Ciliary Dyskinesia, Primary, 5 and Ciliary Dyskinesia, Primary, 1. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for HYDIN Gene

  • Required for ciliary motility.

Additional gene information for HYDIN Gene

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

Genomics for HYDIN Gene

GeneHancer (GH) Regulatory Elements for HYDIN Gene

Promoters and enhancers for HYDIN Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I071230 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.1 118 0.4 MXI1 PKNOX1 RFX1 MAX NFYC SP2 SIN3A BMI1 RFX5 SP1 HYDIN CMTR2 ENSG00000259798
GH16I071198 Promoter 0.5 EPDnew 550.3 +32.3 32283 0.1 HYDIN ENSG00000259798
GH16I071893 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 22.8 -664.9 -664926 3.8 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC IST1 PIR43283 PIR45337 ZNF821 PHLPP2 HYDIN ENSG00000247324 ZNF19 MARVELD3 DHX38
GH16I072008 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.8 -778.1 -778120 1.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 DHODH ENSG00000247324 DHX38 HYDIN PHLPP2 HPR ZNF19 LINC01572 IST1 CMTR2
GH16I070986 Enhancer 1.2 Ensembl ENCODE 35.9 +243.3 243260 1.1 PKNOX1 ZNF2 FOS KLF13 SP3 REST SMARCA4 GLIS1 NR2C1 NBN SF3B3 PDPR PDXDC2P-NPIPB14P DDX19A LOC400541 EXOSC6 HYDIN DDX19B NPIPB14P PDXDC2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HYDIN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HYDIN gene promoter:

Genomic Locations for HYDIN Gene

Genomic Locations for HYDIN Gene
428,639 bases
Minus strand

Genomic View for HYDIN Gene

Genes around HYDIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYDIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for HYDIN Gene

No Post-translational modifications

No data available for DME Specific Peptides for HYDIN Gene

Domains & Families for HYDIN Gene

Gene Families for HYDIN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for HYDIN Gene

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

Human Phenotype Ontology for HYDIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HYDIN gene
Compartment Confidence
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HYDIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
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 3 interactants - click image to see details)
Selected Interacting proteins: Q4G0P3-HYDIN_HUMAN ENSP00000314736 for HYDIN Gene via IID 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 organism development IEA --
GO:0021591 ventricular system development IEA --
GO:0060438 trachea development 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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HYDIN Gene

NURSA nuclear receptor signaling pathways regulating expression of HYDIN Gene:


SOURCE GeneReport for Unigene cluster for HYDIN Gene:


Evidence on tissue expression from TISSUES for HYDIN Gene

  • Nervous system(4.2)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HYDIN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
  • bronchus
  • lung
  • trachea
  • spleen
  • ovary
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with HYDIN: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia HYDIN 33
  • 99.32 (n)
-- 34
  • 99 (a)
-- 34
  • 99 (a)
(Canis familiaris)
Mammalia HYDIN 33
  • 85.07 (n)
-- 34
  • 82 (a)
(Bos Taurus)
Mammalia HYDIN 33
  • 84.39 (n)
-- 34
  • 80 (a)
(Rattus norvegicus)
Mammalia Hydin 33
  • 80.95 (n)
(Mus musculus)
Mammalia Hydin 33 16 34
  • 80.78 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
-- 34
  • 69 (a)
-- 34
  • 67 (a)
-- 34
  • 66 (a)
-- 34
  • 62 (a)
-- 34
  • 60 (a)
-- 34
  • 44 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
-- 34
  • 63 (a)
-- 34
  • 60 (a)
-- 34
  • 56 (a)
(Gallus gallus)
Aves HYDIN 33
  • 61.61 (n)
-- 34
  • 51 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hydin 33
  • 58.62 (n)
(Danio rerio)
Actinopterygii hydin 33 34
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
Species where no ortholog for HYDIN was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs373501414 pathogenic, Ciliary dyskinesia, primary, 5 70,991,397(-) C/A/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, splice_acceptor_variant
rs397515413 pathogenic, Ciliary dyskinesia, primary, 5, Kartagener syndrome 70,988,133(-) C/A coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, missense_variant
rs397515414 pathogenic, Ciliary dyskinesia, primary, 5, Kartagener syndrome 71,137,272(-) T/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs1064795912 likely-pathogenic, not provided 70,849,752(-) AGA/A coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs774501536 likely-pathogenic, not provided 70,955,402(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv977996 CNV duplication 23825009
nsv958830 CNV deletion 24416366
nsv958814 CNV deletion 24416366
nsv952050 CNV duplication 24416366
nsv819929 CNV insertion 19587683
nsv817736 CNV gain 17921354
nsv7285 OTHER inversion 18451855
nsv514811 CNV gain 21397061
nsv513453 CNV insertion 21212237
nsv512443 CNV loss 21212237
nsv511573 CNV loss 21212237
nsv476749 CNV novel sequence insertion 20440878
nsv475665 CNV novel sequence insertion 20440878
nsv474710 CNV novel sequence insertion 20440878
nsv472000 CNV novel sequence insertion 20440878
nsv1859 CNV deletion 18451855
nsv1858 CNV insertion 18451855
nsv1857 CNV deletion 18451855
nsv1065386 CNV loss 25217958
nsv1064990 CNV loss 25217958
nsv1064788 CNV loss 25217958
nsv1063585 CNV loss 25217958
nsv1061762 CNV gain 25217958
nsv1060148 CNV loss 25217958
nsv1059996 CNV gain 25217958
nsv1057681 CNV loss 25217958
nsv1055139 CNV loss 25217958
nsv103320 CNV deletion 16902084
nsv103278 CNV deletion 16902084
nsv103129 CNV deletion 16902084
esv993690 CNV insertion 20482838
esv9491 OTHER inversion 19470904
esv9448 CNV loss 19470904
esv8826 CNV loss 19470904
esv8808 CNV gain 19470904
esv8659 CNV gain 19470904
esv7856 CNV gain 19470904
esv7016 CNV gain 19470904
esv3638967 CNV loss 21293372
esv3638966 CNV loss 21293372
esv3638962 CNV gain 21293372
esv3638960 CNV loss 21293372
esv3553631 CNV deletion 23714750
esv3436419 CNV insertion 20981092
esv3353765 CNV insertion 20981092
esv3348863 CNV insertion 20981092
esv3310582 CNV novel sequence insertion 20981092
esv3190457 CNV deletion 24192839
esv2944902 CNV duplication 24192839
esv2943791 CNV duplication 24192839
esv2942680 CNV duplication 24192839
esv2941569 CNV duplication 24192839
esv2940456 CNV duplication 24192839
esv2939345 CNV duplication 24192839
esv2938234 CNV duplication 24192839
esv2758653 CNV gain 17122850
esv27528 CNV gain+loss 19812545
esv2714679 CNV deletion 23290073
esv2714678 CNV deletion 23290073
esv2714677 CNV deletion 23290073
esv2714676 CNV deletion 23290073
esv2714675 CNV deletion 23290073
esv2714674 CNV deletion 23290073
esv2628681 CNV insertion 19546169
esv2603903 CNV deletion 19546169
esv2539613 CNV deletion 19546169
esv2446050 CNV gain 19546169
esv2325464 CNV deletion 18987734
esv2190080 CNV deletion 18987734
esv1740201 CNV insertion 17803354
esv1004290 CNV insertion 20482838
esv1000229 CNV deletion 20482838
esv1000045 CNV deletion 20482838
dgv53e203 CNV gain 21179565
dgv529e214 CNV gain 21293372
dgv528e214 CNV gain 21293372
dgv3016n100 CNV gain 25217958
dgv3015n100 CNV gain 25217958
dgv3014n100 CNV gain 25217958

Variation tolerance for HYDIN Gene

Residual Variation Intolerance Score: 97.8% 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)

Additional Variant Information for HYDIN Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for HYDIN Gene

MalaCards: The human disease database

(6) MalaCards diseases for HYDIN Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 5
  • cild5
ciliary dyskinesia, primary, 1
  • pcd
kartagener syndrome
  • kartagener's syndrome
  • hydrocephalus, nonsyndromic, autosomal recessive 1
communicating hydrocephalus
- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for HYDIN

Genetic Association Database
Human Genome Epidemiology 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 (American journal of human genetics 2012) 2 3 4 58
  2. A 360-kb interchromosomal duplication of the human HYDIN locus. (PMID: 16938426) Doggett NA … Han C (Genomics 2006) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Hydin seek: finding a function in ciliary motility. (PMID: 17296793) Smith EF (The Journal of cell biology 2007) 4 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for HYDIN Gene

Sources for HYDIN Gene

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