ENSG00000285130


Homo sapiens

Features
Gene ID: ENSG00000285130
  
Biological name :AL358113.1
  
Synonyms : AL358113.1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q21.11
Gene start: 69035750
Gene end: 69255187
  
Corresponding Affymetrix probe sets: 202085_at (Human Genome U133 Plus 2.0 Array)   232017_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493780
Ensembl peptide - ENSP00000495447
Ensembl peptide - ENSP00000496488
Ensembl peptide - ENSP00000495651
Ensembl peptide - ENSP00000494300
Ensembl peptide - ENSP00000494599
NCBI entrez gene - 9414     See in Manteia.
OMIM - 607709
RefSeq - XM_017015326
swissprot - A0A0S2Z3Q8
Ensembl - ENSG00000285130
  
Related genetic diseases (OMIM): 607748 - Hypercholanemia, familial, 607748
  615878 - Cholestasis, progressive familial intrahepatic 4, 615878
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(%)
TJP2 / Q9UDY2 / tight junction protein 2ENSG0000011913989
TJP1 / Q07157 / tight junction protein 1ENSG0000010406743
TJP3 / O95049 / tight junction protein 3ENSG0000010528930
DLG5 / Q8TDM6 / discs large MAGUK scaffold protein 5ENSG0000015120817
DLG1 / Q12959 / discs large MAGUK scaffold protein 1ENSG0000007571113
DLG2 / Q15700 / discs large MAGUK scaffold protein 2ENSG0000015067213
DLG3 / Q92796 / discs large MAGUK scaffold protein 3ENSG0000008245812
DLG4 / P78352 / discs large MAGUK scaffold protein 4ENSG0000013253512
MPP7 / Q5T2T1 / membrane palmitoylated protein 7ENSG000001500549
MPP3 / Q13368 / membrane palmitoylated protein 3ENSG000001616479
MPP5 / Q8N3R9 / membrane palmitoylated protein 5ENSG000000724159
MPP2 / Q14168 / membrane palmitoylated protein 2ENSG000001088528
CASK / O14936 / calcium/calmodulin dependent serine protein kinaseENSG000001470448
MPP4 / Q96JB8 / membrane palmitoylated protein 4ENSG000000821268
MPP6 / Q9NZW5 / membrane palmitoylated protein 6ENSG000001059267
MPP1 / Q00013 / membrane palmitoylated protein 1ENSG000001308306
GUK1 / Q16774 / guanylate kinase 1ENSG000001437743


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR002908  Frataxin/CyaY
 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
 IPR036524  Frataxin/CyaY superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016226 iron-sulfur cluster assembly IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008199 ferric iron binding IEA


Pathways (from Reactome)
Pathway description
No match


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
No match






 

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