ENSG00000119139


Homo sapiens

Features
Gene ID: ENSG00000119139
  
Biological name :TJP2
  
Synonyms : Q9UDY2 / tight junction protein 2 / TJP2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q21.11
Gene start: 69121264
Gene end: 69255208
  
Corresponding Affymetrix probe sets: 202085_at (Human Genome U133 Plus 2.0 Array)   232017_at (Human Genome U133 Plus 2.0 Array)   237132_at (Human Genome U133 Plus 2.0 Array)   242991_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000475926
Ensembl peptide - ENSP00000442090
Ensembl peptide - ENSP00000489860
Ensembl peptide - ENSP00000494704
Ensembl peptide - ENSP00000345893
Ensembl peptide - ENSP00000366453
Ensembl peptide - ENSP00000392178
Ensembl peptide - ENSP00000402941
Ensembl peptide - ENSP00000438262
NCBI entrez gene - 9414     See in Manteia.
OMIM - 607709
RefSeq - XM_017015328
RefSeq - NM_004817
RefSeq - NM_201629
RefSeq - XM_005252314
RefSeq - XM_011519204
RefSeq - XM_011519206
RefSeq - XM_011519207
RefSeq - XM_011519208
RefSeq - XM_011519209
RefSeq - XM_017015327
RefSeq - NM_001170414
RefSeq - NM_001170415
RefSeq - NM_001170416
RefSeq - NM_001170630
RefSeq Peptide - NP_004808
RefSeq Peptide - NP_963923
RefSeq Peptide - NP_001163885
RefSeq Peptide - NP_001163886
RefSeq Peptide - NP_001163887
swissprot - Q9UDY2
swissprot - B1AN86
swissprot - U3KQJ2
swissprot - A0A1B0GTW1
Ensembl - ENSG00000119139
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tjp2aENSDARG00000063309Danio rerio
 tjp2bENSDARG00000023443Danio rerio
 TJP2ENSGALG00000015109Gallus gallus
 Tjp2ENSMUSG00000024812Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AL358113.1ENSG0000028513097
TJP1 / Q07157 / tight junction protein 1ENSG0000010406746
TJP3 / O95049 / tight junction protein 3ENSG0000010528933
DLG5 / Q8TDM6 / discs large MAGUK scaffold protein 5ENSG0000015120817
DLG2 / Q15700 / discs large MAGUK scaffold protein 2ENSG0000015067213
DLG3 / Q92796 / discs large MAGUK scaffold protein 3ENSG0000008245813
DLG4 / P78352 / discs large MAGUK scaffold protein 4ENSG0000013253513
DLG1 / Q12959 / discs large MAGUK scaffold protein 1ENSG0000007571113
MPP7 / Q5T2T1 / membrane palmitoylated protein 7ENSG0000015005410
MPP3 / Q13368 / membrane palmitoylated protein 3ENSG0000016164710
MPP5 / Q8N3R9 / membrane palmitoylated protein 5ENSG000000724159
CASK / O14936 / calcium/calmodulin dependent serine protein kinaseENSG000001470449
MPP4 / Q96JB8 / membrane palmitoylated protein 4ENSG000000821269
MPP2 / Q14168 / membrane palmitoylated protein 2ENSG000001088529
MPP6 / Q9NZW5 / membrane palmitoylated protein 6ENSG000001059268
MPP1 / Q00013 / membrane palmitoylated protein 1ENSG000001308306
GUK1 / Q16774 / guanylate kinase 1ENSG000001437743


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR005417  Tight junction protein ZO
 IPR005419  Tight junction protein ZO-2
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035598  ZO-2, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0035329 hippo signaling TAS
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0046710 GDP metabolic process IEA
 biological_processGO:0050892 intestinal absorption IMP
 biological_processGO:0090557 establishment of endothelial intestinal barrier IMP
 biological_processGO:0090559 regulation of membrane permeability IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005923 bicellular tight junction IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0004385 guanylate kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0030674 protein binding, bridging IDA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Signaling by Hippo
Apoptotic cleavage of cell adhesion proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001406 Intrahepatic cholestasis 
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 HP:0001409 Portal hypertension 
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 HP:0001508 Failure to thrive 
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 HP:0002570 Steatorrhea 
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 HP:0002748 Rickets 
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 HP:0003676 Progressive disorder 
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 HP:0011892 Vitamin K deficiency 
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 HP:0012202 increased serum bile acid concentration "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000137693 YAP1 / P46937 / Yes associated protein 1  / reaction / complex
 ENSG00000164305 CASP3 / P42574 / caspase 3  / reaction
 ENSG00000018408 WWTR1 / Q9GZV5 / WW domain containing transcription regulator 1  / complex / reaction






 

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