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CLDN8 claudin 8 [ Homo sapiens (human) ]

Gene ID: 9073, updated on 11-Jun-2021

Summary

Official Symbol
CLDN8provided by HGNC
Official Full Name
claudin 8provided by HGNC
Primary source
HGNC:HGNC:2050
See related
Ensembl:ENSG00000156284 MIM:611231
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
HEL-S-79
Summary
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010]
Orthologs
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Genomic context

See CLDN8 in Genome Data Viewer
Location:
21q22.11
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (30214006..30216097, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (31586324..31588415, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene claudin 17 Neighboring gene long intergenic non-protein coding RNA 307 Neighboring gene ribosomal protein L8 pseudogene 2 Neighboring gene keratin associated protein 24-1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
claudin-8
Names
epididymis secretory protein Li 79

NCBI Reference Sequences (RefSeq)

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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_050758.1 RefSeqGene

    Range
    5055..7146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_199328.3NP_955360.1  claudin-8

    See identical proteins and their annotated locations for NP_955360.1

    Status: REVIEWED

    Source sequence(s)
    AL049977, AW235670, AY358707, DA629490
    Consensus CDS
    CCDS13587.1
    UniProtKB/Swiss-Prot
    P56748
    UniProtKB/TrEMBL
    A0A0K0K1I9
    Related
    ENSP00000382783.1, ENST00000399899.2
    Conserved Domains (1) summary
    cl21598
    Location:5182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    30214006..30216097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012132.3: Suppressed sequence

    Description
    NM_012132.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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