ID CLD14_HUMAN Reviewed; 239 AA. AC O95500; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1999, sequence version 1. DT 10-FEB-2021, entry version 174. DE RecName: Full=Claudin-14; GN Name=CLDN14; ORFNames=UNQ777/PRO1571; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Keen T.J., Inglehearn C.F.; RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT DFNB29 ASP-85. RC TISSUE=Liver; RX PubMed=11163249; DOI=10.1016/s0092-8674(01)00200-8; RA Wilcox E.R., Burton Q.L., Naz S., Riazuddin S., Smith T.N., Ploplis B., RA Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., Kachar B., Wu D.K., RA Griffith A.J., Riazuddin S., Friedman T.B.; RT "Mutations in the gene encoding tight junction claudin-14 cause autosomal RT recessive deafness DFNB29."; RL Cell 104:165-172(2001). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Placenta, and Testis; RA Wattenhofer M., Falciola V., Charollais A., Caille D., Borel C., RA Estivill X., Petersen M.B., Antonarakis S.E., Meda P., Reymond A.; RT "Claudin 14 and deafness."; RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=12975309; DOI=10.1101/gr.1293003; RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale effort to RT identify novel human secreted and transmembrane proteins: a bioinformatics RT assessment."; RL Genome Res. 13:2265-2270(2003). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=10830953; DOI=10.1038/35012518; RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U., RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.; RT "The DNA sequence of human chromosome 21."; RL Nature 405:311-319(2000). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP VARIANT MET-4. RX PubMed=12791041; DOI=10.1034/j.1399-0004.2003.00101.x; RA Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., RA Yuksel-Apak M., Wollnik B.; RT "Frequencies of gap- and tight-junction mutations in Turkish families with RT autosomal-recessive non-syndromic hearing loss."; RL Clin. Genet. 64:65-69(2003). RN [8] RP VARIANTS DFNB29 HIS-81; ASP-85 AND ARG-232. RX PubMed=22246673; DOI=10.1002/ajmg.a.34407; RA Lee K., Ansar M., Andrade P.B., Khan B., Santos-Cortez R.L., Ahmad W., RA Leal S.M.; RT "Novel CLDN14 mutations in Pakistani families with autosomal recessive non- RT syndromic hearing loss."; RL Am. J. Med. Genet. A 158:315-321(2012). RN [9] RP VARIANT MET-4. RX PubMed=23590985; DOI=10.1016/j.gene.2013.03.123; RA Charif M., Bakhchane A., Abidi O., Boulouiz R., Eloualid A., Roky R., RA Rouba H., Kandil M., Lenaers G., Barakat A.; RT "Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic RT hearing loss."; RL Gene 523:103-105(2013). RN [10] RP VARIANTS DFNB29 HIS-81; ASP-85; ILE-87 AND VAL-94, AND VARIANT VAL-86. RX PubMed=23235333; DOI=10.1038/jhg.2012.143; RA Bashir Z.E., Latief N., Belyantseva I.A., Iqbal F., Amer Riazuddin S., RA Khan S.N., Friedman T.B., Riazuddin S., Riazuddin S.; RT "Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in RT the Pakistani population."; RL J. Hum. Genet. 58:102-108(2013). CC -!- FUNCTION: Plays a major role in tight junction-specific obliteration of CC the intercellular space, through calcium-independent cell-adhesion CC activity. {ECO:0000250}. CC -!- INTERACTION: CC O95500; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-11742599, EBI-12019274; CC O95500; P21145: MAL; NbExp=3; IntAct=EBI-11742599, EBI-3932027; CC O95500; Q9Y342: PLLP; NbExp=3; IntAct=EBI-11742599, EBI-3919291; CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; CC Multi-pass membrane protein. CC -!- TISSUE SPECIFICITY: Liver, kidney. Also found in ear. CC -!- DISEASE: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: A CC form of non-syndromic sensorineural hearing loss. Sensorineural CC deafness results from damage to the neural receptors of the inner ear, CC the nerve pathways to the brain, or the area of the brain that receives CC sound information. {ECO:0000269|PubMed:11163249, CC ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AJ132445; CAA10669.1; -; Genomic_DNA. DR EMBL; AF314090; AAG60052.1; -; mRNA. DR EMBL; AY355348; AAR05858.1; -; mRNA. DR EMBL; AY355349; AAR05859.1; -; mRNA. DR EMBL; AJ566765; CAD97762.1; -; mRNA. DR EMBL; AJ566766; CAD97763.1; -; mRNA. DR EMBL; AY358533; AAQ88897.1; -; mRNA. DR EMBL; AP001726; BAA95509.1; -; Genomic_DNA. DR EMBL; BC012126; AAH12126.1; -; mRNA. DR CCDS; CCDS13645.1; -. DR RefSeq; NP_001139549.1; NM_001146077.1. DR RefSeq; NP_001139550.1; NM_001146078.2. DR RefSeq; NP_001139551.1; NM_001146079.1. DR RefSeq; NP_036262.1; NM_012130.3. DR RefSeq; NP_652763.1; NM_144492.2. DR SMR; O95500; -. DR BioGRID; 117105; 4. DR IntAct; O95500; 4. DR STRING; 9606.ENSP00000382090; -. DR iPTMnet; O95500; -. DR PhosphoSitePlus; O95500; -. DR SwissPalm; O95500; -. DR BioMuta; CLDN14; -. DR MassIVE; O95500; -. DR PaxDb; O95500; -. DR PeptideAtlas; O95500; -. DR PRIDE; O95500; -. DR ProteomicsDB; 50930; -. DR Antibodypedia; 23104; 250 antibodies. DR DNASU; 23562; -. DR Ensembl; ENST00000342108; ENSP00000339292; ENSG00000159261. DR Ensembl; ENST00000399135; ENSP00000382087; ENSG00000159261. DR Ensembl; ENST00000399136; ENSP00000382088; ENSG00000159261. DR Ensembl; ENST00000399137; ENSP00000382090; ENSG00000159261. DR Ensembl; ENST00000399139; ENSP00000382092; ENSG00000159261. DR GeneID; 23562; -. DR KEGG; hsa:23562; -. DR UCSC; uc002yvk.3; human. DR CTD; 23562; -. DR DisGeNET; 23562; -. DR GeneCards; CLDN14; -. DR GeneReviews; CLDN14; -. DR HGNC; HGNC:2035; CLDN14. DR HPA; ENSG00000159261; Group enriched (kidney, liver). DR MalaCards; CLDN14; -. DR MIM; 605608; gene. DR MIM; 614035; phenotype. DR neXtProt; NX_O95500; -. DR OpenTargets; ENSG00000159261; -. DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB. DR PharmGKB; PA26561; -. DR VEuPathDB; HostDB:ENSG00000159261.10; -. DR eggNOG; ENOG502QR8Z; Eukaryota. DR GeneTree; ENSGT00940000161312; -. DR HOGENOM; CLU_076370_1_1_1; -. DR InParanoid; O95500; -. DR OMA; THDVVQN; -. DR OrthoDB; 1309858at2759; -. DR PhylomeDB; O95500; -. DR TreeFam; TF331936; -. DR PathwayCommons; O95500; -. DR Reactome; R-HSA-420029; Tight junction interactions. DR BioGRID-ORCS; 23562; 4 hits in 873 CRISPR screens. DR GeneWiki; CLDN14; -. DR GenomeRNAi; 23562; -. DR Pharos; O95500; Tbio. DR PRO; PR:O95500; -. DR Proteomes; UP000005640; Chromosome 21. DR RNAct; O95500; protein. DR Bgee; ENSG00000159261; Expressed in right lobe of liver and 90 other tissues. DR Genevisible; O95500; HS. DR GO; GO:0005923; C:bicellular tight junction; ISS:UniProtKB. DR GO; GO:0005783; C:endoplasmic reticulum; HDA:UniProtKB. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; HDA:UniProtKB. DR GO; GO:0042802; F:identical protein binding; ISS:UniProtKB. DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro. DR GO; GO:0070830; P:bicellular tight junction assembly; IBA:GO_Central. DR GO; GO:0016338; P:calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB. DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central. DR GO; GO:0065003; P:protein-containing complex assembly; TAS:ProtInc. DR InterPro; IPR006187; Claudin. DR InterPro; IPR003556; Claudin14. DR InterPro; IPR017974; Claudin_CS. DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin. DR PANTHER; PTHR12002; PTHR12002; 1. DR PANTHER; PTHR12002:SF99; PTHR12002:SF99; 1. DR Pfam; PF00822; PMP22_Claudin; 1. DR PROSITE; PS01346; CLAUDIN; 1. PE 1: Evidence at protein level; KW Cell junction; Cell membrane; Deafness; Disease variant; Membrane; KW Non-syndromic deafness; Reference proteome; Tight junction; Transmembrane; KW Transmembrane helix. FT CHAIN 1..239 FT /note="Claudin-14" FT /id="PRO_0000144769" FT TOPO_DOM 1..7 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 8..28 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 29..81 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 82..102 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 103..115 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 116..136 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 137..162 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 163..183 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 184..239 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT VARIANT 4 FT /note="T -> M (in dbSNP:rs113831133)" FT /evidence="ECO:0000269|PubMed:12791041, FT ECO:0000269|PubMed:23590985" FT /id="VAR_017227" FT VARIANT 81 FT /note="R -> H (in DFNB29; dbSNP:rs368027306)" FT /evidence="ECO:0000269|PubMed:22246673, FT ECO:0000269|PubMed:23235333" FT /id="VAR_069979" FT VARIANT 85 FT /note="V -> D (in DFNB29; dbSNP:rs74315437)" FT /evidence="ECO:0000269|PubMed:11163249, FT ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333" FT /id="VAR_010738" FT VARIANT 86 FT /note="I -> V" FT /evidence="ECO:0000269|PubMed:23235333" FT /id="VAR_069980" FT VARIANT 87 FT /note="S -> I (in DFNB29)" FT /evidence="ECO:0000269|PubMed:23235333" FT /id="VAR_069981" FT VARIANT 94 FT /note="A -> V (in DFNB29)" FT /evidence="ECO:0000269|PubMed:23235333" FT /id="VAR_069982" FT VARIANT 232 FT /note="G -> R (in DFNB29; dbSNP:rs786204841)" FT /evidence="ECO:0000269|PubMed:22246673" FT /id="VAR_069983" SQ SEQUENCE 239 AA; 25699 MW; DD41652F7FD0E09A CRC64; MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV //