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CLDN11 claudin 11 [ Homo sapiens (human) ]

Gene ID: 5010, updated on 10-May-2020

Summary

Official Symbol
CLDN11provided by HGNC
Official Full Name
claudin 11provided by HGNC
Primary source
HGNC:HGNC:8514
See related
Ensembl:ENSG00000013297 MIM:601326
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
OSP; OTM
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. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]
Expression
Biased expression in testis (RPKM 84.9), brain (RPKM 41.6) and 2 other tissues See more
Orthologs

Genomic context

See CLDN11 in Genome Data Viewer
Location:
3q26.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (170418868..170434691)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170136653..170152479)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5121 Neighboring gene SKI like proto-oncogene Neighboring gene microRNA 6828 Neighboring gene SLC7A14 antisense RNA 1 Neighboring gene solute carrier family 7 member 14 Neighboring gene keratin 8 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 6075

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ57917

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon ensheathment IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
tight junction assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
axon IDA
Inferred from Direct Assay
more info
PubMed 
basal part of cell IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IDA
Inferred from Direct Assay
more info
 
neurofilament IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
claudin-11
Names
oligodendrocyte transmembrane protein
oligodendrocyte-specific protein

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_001185056.2NP_001171985.1  claudin-11 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171985.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC008041, DA258090
  2. NM_005602.6NP_005593.2  claudin-11 isoform 1

    See identical proteins and their annotated locations for NP_005593.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008041, BC013577, DC328248
    Consensus CDS
    CCDS3213.1
    UniProtKB/Swiss-Prot
    O75508
    Related
    ENSP00000064724.3, ENST00000064724.7
    Conserved Domains (1) summary
    cl21598
    Location:6172
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    170418868..170434691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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