1. Gene
  2. CLDN2 - claudin 2 Gene

CLDN2 - claudin 2 Gene

Homo sapiens

Also known as OAZON

Gene ID: 9075 | Gene type: protein coding

About CLDN2

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:106,900,164-106,930,861 (from NCBI)

This gene has 3 transcripts (splice variants), 188 orthologues, 22 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 67.4), gall bladder (RPKM 59.4) and 4 other tissues.

Summary

This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]

CLDN2 Products(3)

mRNA Protein Name
NM_001171092.1 NP_001164563.1 claudin-2
NM_001171095.2 NP_001164566.1 claudin-2
NM_020384.4 NP_065117.1 claudin-2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IDA
IDA: Inferred from direct assay
36008380 GOA
enables paracellular tight junction channel activity IDA
IDA: Inferred from direct assay
20460438 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25323998 GOA
Biological Process GO Annotation Evidence Reference Source
involved in paracellular transport IDA
IDA: Inferred from direct assay
20460438 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cell-cell junction IDA
IDA: Inferred from direct assay
21415414 GOA
located in tight junction IDA
IDA: Inferred from direct assay
20460438 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLDN2 Protein Structure

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (5 - 181)

  • 0
  • 100
  • 200
  • 230 a.a.
Protein Preferred Names Protein Names

claudin-2

SP82

Related Diseases

Diseases Alias
Azoospermia, Obstructive, With Nephrolithiasis

OAZON

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Ulcerative Colitis

Colitis Gravis

Left Sided Ulcerative Colitis

Left-Sided Ulcerative Colitis

Idiopathic Proctocolitis

Inflammatory Bowel Disease, Ulcerative Colitis Type

Uc

Colitis Ulcerative

Colitis, Ulcerative

Chronic Left-Sided Ulcerative Colitis

Uc - [Ulcerative Colitis]

Chronic Ulcerative Enteritis

Mucosal Proctocolitis

Ulcerative Mucosal Proctocolitis

Left Hemicolitis

Inflammatory Bowel Disease 20

IBD20

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Chemical Colitis
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Autoimmune Disease Of Gastrointestinal Tract
Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CLDN2 MGD MGI:1276110
Bos taurus CLDN2 VGNC VGNC:27410
Felis catus CLDN2 VGNC VGNC:60934
Rattus norvegicus CLDN2 RGD RGD:1560247
Canis familiaris CLDN2 VGNC VGNC:39316