Home > Gene Browser > TJP2

TJP2

Synonyms
C9DUPq21.11, DFNA51, DUP9q21.11, FHCA1, PFIC4, X104, ZO2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
7,946
Likely benign
2,905
Benign
1,125

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on TJP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
38.5%
Abnormality of limbs
30.8%
Abnormality of the nervous system
30.8%
Growth abnormality
30.8%
Abnormality of head or neck
23.1%
Abnormality of the cardiovascular system
23.1%
Abnormality of the ear
23.1%
Abnormality of the genitourinary system
23.1%
Abnormality of the endocrine system
15.4%
Abnormality of the integument
15.4%
Abnormality of the digestive system
7.7%
Abnormality of the eye
7.7%
Abnormality of the immune system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes