ENSG00000184292


Homo sapiens

Features
Gene ID: ENSG00000184292
  
Biological name :TACSTD2
  
Synonyms : P09758 / TACSTD2 / tumor associated calcium signal transducer 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p32.1
Gene start: 58575423
Gene end: 58577773
  
Corresponding Affymetrix probe sets: 202285_s_at (Human Genome U133 Plus 2.0 Array)   202286_s_at (Human Genome U133 Plus 2.0 Array)   202287_s_at (Human Genome U133 Plus 2.0 Array)   227128_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360269
NCBI entrez gene - 4070     See in Manteia.
OMIM - 137290
RefSeq - NM_002353
RefSeq Peptide - NP_002344
swissprot - P09758
Ensembl - ENSG00000184292
  
Related genetic diseases (OMIM): 204870 - Corneal dystrophy, gelatinous drop-like, 204870
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
 epcamENSDARG00000040534Danio rerio
 TACSTD2ENSGALG00000010867Gallus gallus
 Q8BGV3ENSMUSG00000051397Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPCAM / P16422 / epithelial cell adhesion moleculeENSG0000011988848


Protein motifs (from Interpro)
Interpro ID Name
 IPR000716  Thyroglobulin type-1
 IPR036857  Thyroglobulin type-1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0010633 negative regulation of epithelial cell migration IEA
 biological_processGO:0050678 regulation of epithelial cell proliferation IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051497 negative regulation of stress fiber assembly IEA
 biological_processGO:0060675 ureteric bud morphogenesis IEA
 biological_processGO:0090191 negative regulation of branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0098609 cell-cell adhesion IBA
 biological_processGO:1900025 negative regulation of substrate adhesion-dependent cell spreading IEA
 biological_processGO:1900028 negative regulation of ruffle assembly IEA
 biological_processGO:2000146 negative regulation of cell motility IEA
 biological_processGO:2000738 positive regulation of stem cell differentiation IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009925 basal plasma membrane IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI


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:0000505 Impaired vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000622 Blurred vision 
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 HP:0001131 Corneal dystrophy 
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 HP:0007663 Decreased central vision 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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