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CLDN12 claudin 12 [ Homo sapiens (human) ]

Gene ID: 9069, updated on 4-May-2020

Summary

Official Symbol
CLDN12provided by HGNC
Official Full Name
claudin 12provided by HGNC
Primary source
HGNC:HGNC:2034
See related
Ensembl:ENSG00000157224 MIM:611232
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
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 the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in colon (RPKM 15.9), prostate (RPKM 14.5) and 25 other tissues See more
Orthologs

Genomic context

See CLDN12 in Genome Data Viewer
Location:
7q21.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (90403461..90415954)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (90032648..90045268)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986715 Neighboring gene uncharacterized LOC112267985 Neighboring gene cell division cycle 42 pseudogene Neighboring gene GTP binding protein 10 Neighboring gene uncharacterized LOC102723899 Neighboring gene cyclin dependent kinase 14 Neighboring gene TVP23C pseudogene 1

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of claudin 12 (CLDN12) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT tight junction assembly 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
 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
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.

mRNA and Protein(s)

  1. NM_001185072.3NP_001172001.1  claudin-12

    See identical proteins and their annotated locations for NP_001172001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC006153
    Consensus CDS
    CCDS5618.1
    UniProtKB/Swiss-Prot
    P56749
    UniProtKB/TrEMBL
    B2R687
    Related
    ENSP00000419053.1, ENST00000496677.6
  2. NM_001185073.3NP_001172002.1  claudin-12

    See identical proteins and their annotated locations for NP_001172002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 5' UTR, as compared to variant 1.
    Source sequence(s)
    AC006153
    Consensus CDS
    CCDS5618.1
    UniProtKB/Swiss-Prot
    P56749
    UniProtKB/TrEMBL
    B2R687
    Related
    ENSP00000378103.1, ENST00000394605.2
  3. NM_012129.5NP_036261.1  claudin-12

    See identical proteins and their annotated locations for NP_036261.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' UTR, as compared to variant 1.
    Source sequence(s)
    AC006153
    Consensus CDS
    CCDS5618.1
    UniProtKB/Swiss-Prot
    P56749
    Related
    ENSP00000287916.4, ENST00000287916.8

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    90403461..90415954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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