Details for: CLDN14

Gene ID: 23562

Symbol: CLDN14

Ensembl ID: ENSG00000159261

Description: claudin 14

Associated with

Other Information

Genular Protein ID: 4180567746

Symbol: CLD14_HUMAN

Name: Claudin-14

UniProtKB Accession Codes:

O95500

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 5 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 5 SAM 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11163249

Title: Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

PubMed ID: 11163249

DOI: 10.1016/s0092-8674(01)00200-8

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12791041

Title: Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

PubMed ID: 12791041

DOI: 10.1034/j.1399-0004.2003.00101.x

PubMed ID: 22246673

Title: Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

PubMed ID: 22246673

DOI: 10.1002/ajmg.a.34407

PubMed ID: 23590985

Title: Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.

PubMed ID: 23590985

DOI: 10.1016/j.gene.2013.03.123

PubMed ID: 23235333

Title: Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

PubMed ID: 23235333

DOI: 10.1038/jhg.2012.143

Sequence Information:

  • Length: 239
  • Mass: 25699
  • Checksum: DD41652F7FD0E09A
  • Sequence:
    • MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG 
IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL 
GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL 
LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.