TJP2 Chromosome 9
Tight junction protein 2
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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
4
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
TJP2-related disorder, TJP2-related disorder
Health Risk
RS1207986488
Conflicting classifications of pathogenicity
TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder
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
TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder
Health Risk
RS144396411
Conflicting classifications of pathogenicity
TJP2-related disorder, Gastric cancer, Clear cell carcinoma of kidney
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057515614 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS1207986488 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder |
| RS1278244243 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS138241615 | Health Risk | Conflicting classifications of pathogenicity | Hypercholanemia, familial 1, Cholestasis |
| RS138509345 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139354927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140340673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141496493 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TJP2-related disorder, Inborn genetic diseases |
| RS141675065 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142254605 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TJP2-related disorder, Inborn genetic diseases |
| RS142847960 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder |
| RS144396411 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Gastric cancer, Clear cell carcinoma of kidney |
| RS146761713 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 51, Autosomal dominant nonsyndromic hearing loss 51 |
| RS147139671 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS149659876 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder |
| RS149911553 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS150193775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150723764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150883816 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554662271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1563950539 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS1829255885 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS183285809 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184519036 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS189443180 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS191634088 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS199641113 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Inborn genetic diseases, TJP2-related disorder |
| RS199704587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, Familial cancer of breast |
| RS199761505 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS199767035 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS199857597 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200222645 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS200384355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200415824 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Familial cancer of breast, Clear cell carcinoma of kidney |
| RS201366118 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS367977493 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS371617466 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS372333417 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS373160031 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS374453976 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS374523970 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376663560 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS527789195 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS530810462 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS546327568 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, Hypercholanemia, familial 1 |
| RS57728054 | Health Risk | Conflicting classifications of pathogenicity | TJP2-related disorder, TJP2-related disorder |
| RS587777518 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 4 |
| RS727503479 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727504461 | Health Risk | Conflicting classifications of pathogenicity | Hypercholanemia, familial 1, Cholestasis |
| RS745427593 | Health Risk | Conflicting classifications of pathogenicity | — |