Free for academic non-profit institutions. Other users need a Commercial license

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, With Or Without Situs Inversus. 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

Enhancers for HYDIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F071707 1.3 FANTOM5 Ensembl ENCODE 2.4 -478.1 -478132 3.3 MAX RAD21 ZNF121 ZNF664 ZNF316 GATA3 SMC3 FOS MAFK TCF7L2 ZNF19 PMFBP1 PHLPP2 MARVELD3 RNU6-208P HPR HYDIN ENSG00000261513 SNORA70D
GH16F071152 0.6 ENCODE 4.4 +77.4 77382 1.7 IRF9 JUND ATF3 POLR2A ZNF133 CEBPB CEBPG HYDIN ENSG00000259798
GH16F071230 0.7 ENCODE 0.8 0.0 -11 0.2 PKNOX1 RFX1 NFYA HCFC1 MAX NFYC SP2 SIN3A BMI1 RAD21 HYDIN LOC102723786
GH16F071254 1.4 Ensembl ENCODE 0.3 -24.9 -24945 1.7 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SF3B3 ENSG00000247324 CMTR2 HYDIN LOC102723786
GH16F071242 0.7 ENCODE 0.4 -12.1 -12091 1.0 ATF1 RFX1 PKNOX1 DDX20 NR4A1 BMI1 POLR2H ZNF766 IKZF1 PBX2 CALB2 HYDIN LOC102723786
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HYDIN on UCSC Golden Path with GeneCards custom track

Promoters for HYDIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001802652 121 799 PKNOX1 RFX1 HCFC1 MAX NFYC SP2 SIN3A BMI1 RAD21 MBD2

Genomic Location for HYDIN Gene

Chromosome:
16
Start:
70,802,084 bp from pter
End:
71,230,722 bp from pter
Size:
428,639 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=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

  • 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

Human Phenotype Ontology for HYDIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA 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

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 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

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 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000314736%0d%0a9606.ENSP00000326031%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000314736 Q4G0P3-HYDIN_HUMAN for HYDIN Gene via STRING IID

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

Transcripts for HYDIN Gene

Inhibitory RNA Products

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: - - -
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
ECgene alternative splicing isoforms 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



NURSA nuclear receptor signaling pathways regulating expression of HYDIN Gene:

HYDIN

SOURCE GeneReport for Unigene cluster for HYDIN Gene:

Hs.461229
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
chimpanzee
(Pan troglodytes)
Mammalia HYDIN 34
  • 99.32 (n)
-- 35
  • 99 (a)
ManyToMany
-- 35
  • 99 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia HYDIN 34
  • 85.07 (n)
-- 35
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HYDIN 34
  • 84.39 (n)
-- 35
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hydin 34
  • 80.95 (n)
mouse
(Mus musculus)
Mammalia Hydin 34 16 35
  • 80.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
ManyToMany
-- 35
  • 69 (a)
ManyToMany
-- 35
  • 67 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
-- 35
  • 60 (a)
ManyToMany
-- 35
  • 44 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
-- 35
  • 60 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HYDIN 34
  • 61.61 (n)
-- 35
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hydin 34
  • 58.62 (n)
zebrafish
(Danio rerio)
Actinopterygii hydin 34 35
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HYDIN (if available)
TreeFam:
Gene Tree for HYDIN (if available)

Paralogs for HYDIN Gene

Pseudogenes.org 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
rs373501414 Pathogenic 70,991,397(+) CAGTC(A/C)TAGGA splice-acceptor-variant
rs397515413 Pathogenic 70,988,133(-) TGCAG(G/T)TGTTT reference, missense
rs397515414 Pathogenic 71,137,272(-) TCGAG(A/T)AAACC reference, stop-gained
rs483352710 Uncertain significance 70,952,503(-) GAGCG(C/G/T)GGTGA reference, missense
rs1002345 -- 71,122,140(-) TCCGC(C/T)CTATA intron-variant

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

Variant ID Type Subtype PubMed ID
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
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
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

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)

Relevant External Links for HYDIN Gene

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

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

- 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.

Relevant External Links for HYDIN

Genetic Association Database (GAD)
HYDIN
Human Genome Epidemiology (HuGE) Navigator
HYDIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HYDIN
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 3 4 64
  2. A 360-kb interchromosomal duplication of the human HYDIN locus. (PMID: 16938426) Doggett N.A. … Han C. (Genomics 2006) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Hydin seek: finding a function in ciliary motility. (PMID: 17296793) Smith E.F. (J. Cell Biol. 2007) 4 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for HYDIN Gene

Sources for HYDIN Gene

Content
Loading form....