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CLDN14 claudin 14 [ Homo sapiens (human) ]

Gene ID: 23562, updated on 3-Mar-2019

Summary

Official Symbol
CLDN14provided by HGNC
Official Full Name
claudin 14provided by HGNC
Primary source
HGNC:HGNC:2035
See related
Ensembl:ENSG00000159261 MIM:605608
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB29
Summary
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
Expression
Biased expression in liver (RPKM 3.1) and kidney (RPKM 1.4) See more
Orthologs

Genomic context

See CLDN14 in Genome Data Viewer
Location:
21q22.13
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (36460621..36576569, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (37832919..37948867, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MORC family CW-type zinc finger 3 Neighboring gene ATP synthase membrane subunit f pseudogene 1 Neighboring gene chromatin assembly factor 1 subunit B Neighboring gene uncharacterized LOC105369301 Neighboring gene proteasome 26S subunit, non-ATPase 4 pseudogene 1 Neighboring gene uncharacterized LOC105369308 Neighboring gene uncharacterized LOC107985492 Neighboring gene SIM bHLH transcription factor 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal recessive 29
MedGen: C3279660 OMIM: 614035 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Impact of ancestry and common genetic variants on QT interval in African Americans.
NHGRI GWA Catalog
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
NHGRI GWA Catalog
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Hepatitis C, organism-specific biosystem (from KEGG)
    Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Hepatitis C, conserved biosystem (from KEGG)
    Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction interactions, organism-specific biosystem (from REACTOME)
    Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane HDA PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011777.1 RefSeqGene

    Range
    5001..120949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146077.1NP_001139549.1  claudin-14

    See identical proteins and their annotated locations for NP_001139549.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (delta) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AJ566766, BC012126
    Consensus CDS
    CCDS13645.1
    UniProtKB/Swiss-Prot
    O95500
    Related
    ENSP00000339292.2, ENST00000342108.2
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001146078.2NP_001139550.1  claudin-14

    See identical proteins and their annotated locations for NP_001139550.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AI655909, AJ566765, BC012126
    Consensus CDS
    CCDS13645.1
    UniProtKB/Swiss-Prot
    O95500
    Related
    ENSP00000382088.1, ENST00000399136.5
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_001146079.2NP_001139551.1  claudin-14

    See identical proteins and their annotated locations for NP_001139551.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AP000695, AY355348, BC012126
    Consensus CDS
    CCDS13645.1
    UniProtKB/Swiss-Prot
    O95500
    Related
    ENSP00000382087.1, ENST00000399135.5
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_012130.3NP_036262.1  claudin-14

    See identical proteins and their annotated locations for NP_036262.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (epsilon) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AY355349, BC012126
    Consensus CDS
    CCDS13645.1
    UniProtKB/Swiss-Prot
    O95500
    Related
    ENSP00000382092.1, ENST00000399139.5
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  5. NM_144492.2NP_652763.1  claudin-14

    See identical proteins and their annotated locations for NP_652763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) represents the longest transcript. All five variants encode the same protein.
    Source sequence(s)
    AF314090, AP000695, BC012126
    Consensus CDS
    CCDS13645.1
    UniProtKB/Swiss-Prot
    O95500
    Related
    ENSP00000382090.1, ENST00000399137.5
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    36460621..36576569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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