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CLDN23 claudin 23 [ Homo sapiens (human) ]

Gene ID: 137075, updated on 21-Dec-2019

Summary

Official Symbol
CLDN23provided by HGNC
Official Full Name
claudin 23provided by HGNC
Primary source
HGNC:HGNC:17591
See related
Ensembl:ENSG00000253958 MIM:609203
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
CLDNL; hCG1646163
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 gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]
Orthologs

Genomic context

See CLDN23 in Genome Data Viewer
Location:
8p23.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (8701937..8704096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (8559666..8561617)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 178, pseudogene Neighboring gene uncharacterized LOC105379225 Neighboring gene malignant fibrous histiocytoma amplified sequence 1 Neighboring gene RNA, U6 small nuclear 682, pseudogene Neighboring gene exoribonuclease 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

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
 
Component Evidence Code Pubs
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
claudin-23
Names
2310014B08Rik

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.

mRNA and Protein(s)

  1. NM_194284.3NP_919260.2  claudin-23

    See identical proteins and their annotated locations for NP_919260.2

    Status: REVIEWED

    Source sequence(s)
    AC087269, BC016047, BC125149
    Consensus CDS
    CCDS55195.1
    UniProtKB/Swiss-Prot
    Q96B33
    Related
    ENSP00000428780.1, ENST00000519106.2
    Conserved Domains (1) summary
    cl21598
    Location:41137
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    8701937..8704096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    4648031..4650190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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