ENSG00000159261


Homo sapiens

Features
Gene ID: ENSG00000159261
  
Biological name :CLDN14
  
Synonyms : claudin 14 / CLDN14 / O95500
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.13
Gene start: 36460621
Gene end: 36576569
  
Corresponding Affymetrix probe sets: 210689_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000382087
Ensembl peptide - ENSP00000339292
Ensembl peptide - ENSP00000382090
Ensembl peptide - ENSP00000382092
Ensembl peptide - ENSP00000382088
NCBI entrez gene - 23562     See in Manteia.
OMIM - 605608
RefSeq - NM_001146079
RefSeq - NM_001146077
RefSeq - NM_001146078
RefSeq - NM_012130
RefSeq - NM_144492
RefSeq Peptide - NP_001139549
RefSeq Peptide - NP_001139550
RefSeq Peptide - NP_001139551
RefSeq Peptide - NP_036262
RefSeq Peptide - NP_652763
swissprot - O95500
Ensembl - ENSG00000159261
  
Related genetic diseases (OMIM): 614035 - Deafness, autosomal recessive 29, 614035
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
 CLDN14ENSGALG00000016043Gallus gallus
 Cldn14ENSMUSG00000047109Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CLDN2 / P57739 / claudin 2ENSG0000016537645
CLDN1 / O95832 / claudin 1ENSG0000016334741
CLDN3 / O15551 / claudin 3ENSG0000016521540
CLDN9 / O95484 / claudin 9ENSG0000021393740
CLDN4 / O14493 / claudin 4ENSG0000018914340
CLDN7 / O95471 / claudin 7ENSG0000018188539
CLDN19 / Q8N6F1 / claudin 19ENSG0000016400738
CLDN6 / P56747 / claudin 6ENSG0000018469738
CLDN5 / O00501 / claudin 5ENSG0000018411336
CLDN8 / P56748 / claudin 8ENSG0000015628433


Protein motifs (from Interpro)
Interpro ID Name
 IPR003556  Claudin-14
 IPR004031  PMP-22/EMP/MP20/Claudin superfamily
 IPR006187  Claudin
 IPR017974  Claudin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
 biological_processGO:0065003 protein-containing complex assembly TAS
 cellular_componentGO:0005783 endoplasmic reticulum HDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0042802 identical protein binding ISS


Pathways (from Reactome)
Pathway description
Tight junction interactions


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:0000365 Hearing loss 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0003680 Nonprogressive disorder 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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