TJP2 Chromosome 9

Tight junction protein 2

138 variants 138 Health Risk

Upload your DNA to see your personal genotypes for variants in TJP2.

What This Gene Does

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Gene Info

Gene Group

"Membrane associated guanylate kinases|PDZ domain containing"

Locus Type

gene with protein product

Location

9q21.11

Ensembl

ENSG00000119139

Associated Conditions (15)

TJP2-related disorder

Inborn genetic diseases

Cholestasis

progressive familial intrahepatic

Hypercholanemia

familial 1

Autosomal dominant nonsyndromic hearing loss 51

Gastric cancer

Clear cell carcinoma of kidney

Autosomal recessive nonsyndromic hearing loss 4

Familial cancer of breast

Primary biliary cholangitis

Uterine corpus endometrial carcinoma

Melnick-Fraser syndrome

Key Variants

RS1057515614

Conflicting classifications of pathogenicity

Health Risk

RS1207986488

Conflicting classifications of pathogenicity

Health Risk

RS1278244243

Conflicting classifications of pathogenicity

Cholestasis, progressive familial intrahepatic, 4

Health Risk

RS138241615

Conflicting classifications of pathogenicity

Hypercholanemia, familial 1, Cholestasis

Health Risk

RS138509345

Conflicting classifications of pathogenicity

Health Risk

RS139354927

Conflicting classifications of pathogenicity

Health Risk

RS140340673

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS141496493

Conflicting classifications of pathogenicity

Inborn genetic diseases, TJP2-related disorder, Inborn genetic diseases

Health Risk

RS141675065

Conflicting classifications of pathogenicity

Health Risk

RS142254605

Conflicting classifications of pathogenicity

Inborn genetic diseases, TJP2-related disorder, Inborn genetic diseases

Health Risk

RS142847960

Conflicting classifications of pathogenicity

Health Risk

RS144396411

Conflicting classifications of pathogenicity

Health Risk

All Variants (138)

RSID	Category	Clinical Significance	Conditions
RS1588080680	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS1588127136	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS1829487527	Health Risk	Pathogenic	—
RS1830170589	Health Risk	Pathogenic	—
RS1830481830	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS1830959398	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS2133270267	Health Risk	Pathogenic	—
RS2133314949	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS2133456150	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS2538450938	Health Risk	Pathogenic	—
RS2538571854	Health Risk	Pathogenic	—
RS2538580998	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS2538687943	Health Risk	Pathogenic	—
RS587777519	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS587777520	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS587777521	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS746830415	Health Risk	Pathogenic	TJP2-related disorder, TJP2-related disorder
RS748671901	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS749009273	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS756322608	Health Risk	Pathogenic	Autosomal dominant nonsyndromic hearing loss 51, Autosomal dominant nonsyndromic hearing loss 51
RS760746355	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS763094928	Health Risk	Pathogenic	—
RS764379398	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS771690686	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS776869985	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS777460754	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS781334233	Health Risk	Pathogenic	—
RS864321695	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS864321697	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS886041948	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS886042381	Health Risk	Pathogenic	—
RS928915940	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS121918299	Health Risk	Pathogenic/Likely pathogenic	Hypercholanemia, familial 1, Cholestasis
RS1225374015	Health Risk	Pathogenic/Likely pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS139314808	Health Risk	Pathogenic/Likely pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS1830379007	Health Risk	Pathogenic/Likely pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS2538448383	Health Risk	Pathogenic/Likely pathogenic	Cholestasis, progressive familial intrahepatic, 4
RS749237210	Health Risk	Pathogenic/Likely pathogenic	Cholestasis, progressive familial intrahepatic, 4

« Prev 1 2 3