1. Gene
  2. TJP3 - tight junction protein 3 Gene

TJP3 - tight junction protein 3 Gene

Homo sapiens

Also known as ZO3; ZO-3

Gene ID: 27134 | Gene type: protein coding

About TJP3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,708,384-3,750,813 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 3 paralogues. Biased expression in colon (RPKM 22.4), duodenum (RPKM 17.0) and 13 other tissues.

Summary

The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin Cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]

TJP3 Products(2)

mRNA Protein Name
NM_001267560.2 NP_001254489.1 tight junction protein ZO-3 isoform 1
NM_001267561.2 NP_001254490.1 tight junction protein ZO-3 isoform 2

TJP3 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (13 - 88)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (199 - 269)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (388 - 448)

SH3_2

SH3_2: Variant SH3 domain (479 - 547)

Guanylate_kin

Guanylate_kin: Guanylate kinase (662 - 762)

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  • 919 a.a.
Protein Preferred Names Protein Names

tight junction protein ZO-3

tight junction protein 3 (zona occludens 3)

Related Diseases

Diseases Alias
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
Felis catus TJP3 VGNC VGNC:66200
Mus musculus TJP3 MGD MGI:1351650
Rattus norvegicus TJP3 RGD RGD:1309247
Canis familiaris TJP3 VGNC VGNC:47388
Bos taurus TJP3 VGNC VGNC:35883