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] See more...

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
  • Hydrocephalus-Inducing Protein Homolog 3 4
  • KIAA1864 2 4
  • PPP1R31 2 3
  • HYDIN1 3 4
  • CILD5 2 3
  • Hydrocephalus Inducing Homolog (Mouse) 2
  • Hydrocephalus Inducing 2
  • DKFZp434D0513 2
  • HYDIN2 3
  • HYDIN 5

External Ids for HYDIN Gene

Previous GeneCards Identifiers for HYDIN Gene

  • GC16M070576
  • GC16M070617
  • GC16M069576
  • GC16M069618
  • GC16M069400
  • GC16M070842
  • GC16M070804
  • GC16M070806

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 Kartagener Syndrome. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is CFAP47.

UniProtKB/Swiss-Prot Summary for HYDIN Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HYDIN Gene

Genomics for HYDIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HYDIN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HYDIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HYDIN

Top Transcription factor binding sites by QIAGEN in the HYDIN gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • GATA-1
  • IRF-7A
  • LyF-1

Genomic Locations for HYDIN Gene

Genomic Locations for HYDIN Gene
chr16:70,802,084-71,230,722
(GRCh38/hg38)
Size:
428,639 bases
Orientation:
Minus strand
chr16:70,841,281-71,264,625
(GRCh37/hg19)
Size:
423,345 bases
Orientation:
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:
    Q4G0P3-HYDIN_HUMAN
    Recommended name:
    Hydrocephalus-inducing protein homolog
    Protein Accession:
    Q4G0P3
    Secondary Accessions:
    • A6NC70
    • A6NLZ0
    • B4DQY4
    • B4DRN4
    • F5H6V3
    • Q8N3H8
    • Q8N3P6
    • Q8TC08
    • Q96JG3
    • Q96SS4
    • Q9H5U3
    • Q9H9B8
    • Q9NTI0
    • Q9UBE5

    Protein attributes for HYDIN Gene

    Size:
    5121 amino acids
    Molecular mass:
    575892 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28351.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15527.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

  • 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

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

Protein Domains for HYDIN Gene

Suggested Antigen Peptide Sequences for HYDIN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56907, highly similar to Homo sapiens hydrocephalus inducing (HYDIN), mRNA (B4DRN4_HUMAN)
genes like me logo Genes that share domains with HYDIN: view

No data available for Graphical View of Domain Structure and 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYDIN

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

COMPARTMENTS
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 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 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

PathCards logo

SuperPathways for HYDIN Gene

No Data Available

Interacting Proteins for HYDIN Gene

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:0007420 brain development IEA --
GO:0021591 ventricular system 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

mRNA/cDNA for HYDIN Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYDIN

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: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26
SP1: - -
SP2:
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:

Relevant External Links for HYDIN Gene

GeneLoc Exon Structure for
HYDIN

Expression for HYDIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HYDIN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HYDIN

SOURCE GeneReport for Unigene cluster for HYDIN Gene:

Hs.461229

Evidence on tissue expression from TISSUES for HYDIN Gene

  • Nervous system(4.5)
  • Lung(4.3)

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

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

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
Chimpanzee
(Pan troglodytes)
Mammalia HYDIN 30
  • 99.32 (n)
-- 31
  • 99 (a)
ManyToMany
-- 31
  • 99 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia HYDIN 30
  • 85.07 (n)
-- 31
  • 82 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia HYDIN 30
  • 84.39 (n)
-- 31
  • 80 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Hydin 30
  • 80.95 (n)
Mouse
(Mus musculus)
Mammalia Hydin 30 17 31
  • 80.78 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
ManyToMany
-- 31
  • 69 (a)
ManyToMany
-- 31
  • 67 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
-- 31
  • 62 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 64 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves HYDIN 30
  • 61.61 (n)
-- 31
  • 51 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hydin 30
  • 58.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii hydin 30 31
  • 54.69 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for HYDIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for HYDIN (if available)
TreeFam:
Gene Tree for HYDIN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HYDIN: view image

Paralogs for HYDIN Gene

Paralogs for HYDIN Gene

Pseudogenes.org Pseudogenes for HYDIN Gene

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

Variants for HYDIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HYDIN Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
636461 Uncertain Significance: not provided 71,184,914(-) C/T MISSENSE_VARIANT
808072 Uncertain Significance: not provided 70,882,737(-) TG/T FRAMESHIFT_VARIANT
808073 Uncertain Significance: not provided 70,903,738(-) G/A SYNONYMOUS_VARIANT
808074 Uncertain Significance: not provided 70,952,522(-) T/C MISSENSE_VARIANT
869381 Pathogenic: Ciliary dyskinesia, primary, 5 70,850,568(-) AG/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for HYDIN Gene

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

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

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)
HYDIN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HYDIN

SNP Genotyping and Copy Number Assay Products

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

Disorders for HYDIN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 5
  • cild5
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
primary ciliary dyskinesia
  • pcd
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search HYDIN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HYDIN_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. A 360-kb interchromosomal duplication of the human HYDIN locus. (PMID: 16938426) Doggett NA … Han C (Genomics 2006) 3 4 23
  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 41
  4. Hydin seek: finding a function in ciliary motility. (PMID: 17296793) Smith EF (The Journal of cell biology 2007) 4 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for HYDIN Gene

Sources for HYDIN Gene