CLDN12 claudin 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN12provided by HGNC
Official Full Name: claudin 12provided by HGNC
Primary source: HGNC:HGNC:2034
See related: Ensembl:ENSG00000157224 MIM:611232; AllianceGenome:HGNC:2034
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: mouse all
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Genomic context

Location:: 7q21.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (90403461..90415954)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (91651753..91664246)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (90032775..90045268)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tight Junction Protein Claudin-12 Is Involved in Cell Migration during Metastasis.
Title: Tight Junction Protein Claudin-12 Is Involved in Cell Migration during Metastasis.
Reduced Claudin-12 Expression Predicts Poor Prognosis in Cervical Cancer.
Title: Reduced Claudin-12 Expression Predicts Poor Prognosis in Cervical Cancer.
We found that COPII cargo CLDN12 is important for Hepatitis C Virus entry.
Title: COPII cargo claudin-12 promotes hepatitis C virus entry.
CLDN 12 expression could be clinically useful for predicting the survival of the estrogen receptor (ER)-negative subgroup of patients with breast cancer.
Title: Prognostic significance of Claudin 12 in estrogen receptor-negative breast cancer.
Knockdown of claudin-3, claudin-4, and claudin-12, but not claudin-1, increased breast cancer MCF-7 cell migration with maximal effects observed in claudin-12 siRNA-transfected cells.
Title: Interleukin-18 enhances breast cancer cell migration via down-regulation of claudin-12 and induction of the p38 MAPK pathway.
These findings strongly suggest that claudin-2- and/or claudin-12-based tight junctions form paracellular Ca(2+) channels in intestinal epithelia, and they highlight a novel mechanism behind vitamin D-dependent calcium homeostasis.
Title: Tight junction proteins claudin-2 and -12 are critical for vitamin D-dependent Ca2+ absorption between enterocytes.
Differential expression of genes encoding claudins in colorectal cancer suggests that these tight junction proteins may be associated to and involved in tumorigenesis.
Title: Differential expression of genes encoding tight junction proteins in colorectal cancer: frequent dysregulation of claudin-1, -8 and -12.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD07200 (e-PCR)
- UniSTS:288257

ECD02037 (e-PCR)
- UniSTS:283138

ECD17743 (e-PCR)
- UniSTS:298755

RH47948 (e-PCR)
- UniSTS:37396

REN107123 (e-PCR)
- UniSTS:431920

ECD20357 (e-PCR)
- UniSTS:301360

REN107124 (e-PCR)
- UniSTS:431921

REN107125 (e-PCR)
- UniSTS:431922

REN107126 (e-PCR)
- UniSTS:431923

REN107127 (e-PCR)
- UniSTS:431924

REN107128 (e-PCR)
- UniSTS:431925

REN107129 (e-PCR)
- UniSTS:431926

REN107130 (e-PCR)
- UniSTS:431927

REN107131 (e-PCR)
- UniSTS:431928

ECD23968 (e-PCR)
- UniSTS:304952

REN107132 (e-PCR)
- UniSTS:431929

ECD23201 (e-PCR)
- UniSTS:304185

REN107133 (e-PCR)
- UniSTS:431930

REN107134 (e-PCR)
- UniSTS:431931

REN107135 (e-PCR)
- UniSTS:431932

REN107136 (e-PCR)
- UniSTS:431933

ECD00552 (e-PCR)
- UniSTS:281662

ECD01850 (e-PCR)
- UniSTS:282951

ECD18839 (e-PCR)
- UniSTS:299849

ECD19402 (e-PCR)
- UniSTS:300407

ECD23795 (e-PCR)
- UniSTS:304779

ECD06576 (e-PCR)
- UniSTS:287636

ECD00648 (e-PCR)
- UniSTS:281757

RH65832 (e-PCR)
- UniSTS:43176

stSG614603 (e-PCR)
- UniSTS:450490

ECD00420 (e-PCR)
- UniSTS:281531

stSG614604 (e-PCR)
- UniSTS:450491

ECD18465 (e-PCR)
- UniSTS:299476

ECD21554 (e-PCR)
- UniSTS:302549

ECD20021 (e-PCR)
- UniSTS:301025

Potential readthrough

Included genes: CDK14, GTPBP10, PTTG1IP2

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

Process	Evidence Code	Pubs
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
NOT involved_in tight junction assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-12

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.