ENSG00000157423


Homo sapiens

Features
Gene ID: ENSG00000157423
  
Biological name :HYDIN
  
Synonyms : HYDIN / HYDIN, axonemal central pair apparatus protein / Q4G0P3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q22.2
Gene start: 70807378
Gene end: 71230722
  
Corresponding Affymetrix probe sets: 1553468_at (Human Genome U133 Plus 2.0 Array)   1554907_a_at (Human Genome U133 Plus 2.0 Array)   1554908_at (Human Genome U133 Plus 2.0 Array)   1563529_at (Human Genome U133 Plus 2.0 Array)   220098_at (Human Genome U133 Plus 2.0 Array)   232984_at (Human Genome U133 Plus 2.0 Array)   243354_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000463767
Ensembl peptide - ENSP00000463422
Ensembl peptide - ENSP00000479502
Ensembl peptide - ENSP00000288168
Ensembl peptide - ENSP00000314736
Ensembl peptide - ENSP00000377197
Ensembl peptide - ENSP00000437341
Ensembl peptide - ENSP00000437598
Ensembl peptide - ENSP00000440202
Ensembl peptide - ENSP00000443525
Ensembl peptide - ENSP00000444970
Ensembl peptide - ENSP00000446122
Ensembl peptide - ENSP00000462031
Ensembl peptide - ENSP00000462711
Ensembl peptide - ENSP00000463093
Ensembl peptide - ENSP00000463350
NCBI entrez gene - 54768     See in Manteia.
OMIM - 610812
RefSeq - XM_017023348
RefSeq - NM_001198542
RefSeq - NM_001198543
RefSeq - NM_001270974
RefSeq - NM_017558
RefSeq - XM_006721206
RefSeq - XM_011523146
RefSeq - XM_011523147
RefSeq - XM_011523148
RefSeq - XM_011523151
RefSeq - XM_017023346
RefSeq - XM_017023347
RefSeq Peptide - NP_001185471
RefSeq Peptide - NP_001185472
RefSeq Peptide - NP_060028
RefSeq Peptide - NP_001257903
swissprot - F5H8I6
swissprot - F8WD03
swissprot - H0YF91
swissprot - H0YH52
swissprot - J3KRJ6
swissprot - J3KSY5
swissprot - J3KTP9
swissprot - J3QL30
swissprot - J3QL79
swissprot - J3QQJ7
swissprot - Q4G0P3
swissprot - A0A087WVK9
swissprot - F5GXK3
Ensembl - ENSG00000157423
  
Related genetic diseases (OMIM): 608647 - Ciliary dyskinesia, primary, 5, 608647
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hydinENSDARG00000056764Danio rerio
 HYDINENSGALG00000002407Gallus gallus
 HydinENSMUSG00000059854Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000535  Major sperm protein (MSP) domain
 IPR008962  PapD-like superfamily
 IPR013783  Immunoglobulin-like fold
 IPR031549  Abnormal spindle-like microcephaly-associated protein, ASH domain
 IPR033305  Hydrocephalus-inducing-like
 IPR033768  Hydin adenylate kinase-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002064 epithelial cell development IEA
 biological_processGO:0003341 cilium movement IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0021591 ventricular system development IEA
 biological_processGO:0060438 trachea development IEA
 biological_processGO:1904158 axonemal central apparatus assembly IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:1990718 axonemal central pair projection IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002837 Bronchitis 
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 HP:0003593 Early onset 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0012384 Rhinitis "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
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 HP:0100582 Nasal polyposis "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
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 HP:0200073 Respiratory insufficiency due to defective ciliary clearance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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