ENSG00000106025


Homo sapiens

Features
Gene ID: ENSG00000106025
  
Biological name :TSPAN12
  
Synonyms : O95859 / tetraspanin 12 / TSPAN12
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q31.31
Gene start: 120787320
Gene end: 120858402
  
Corresponding Affymetrix probe sets: 219274_at (Human Genome U133 Plus 2.0 Array)   230625_s_at (Human Genome U133 Plus 2.0 Array)   230626_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000222747
Ensembl peptide - ENSP00000411158
Ensembl peptide - ENSP00000404942
Ensembl peptide - ENSP00000399059
Ensembl peptide - ENSP00000397699
Ensembl peptide - ENSP00000397411
Ensembl peptide - ENSP00000388819
NCBI entrez gene - 23554     See in Manteia.
OMIM - 613138
RefSeq - XM_017011913
RefSeq - NM_012338
RefSeq - XM_005250239
RefSeq - XM_011515993
RefSeq - XM_011515994
RefSeq - XM_017011912
RefSeq Peptide - NP_036470
swissprot - O95859
swissprot - C9J9U1
swissprot - C9IZ82
swissprot - A0A024R740
swissprot - C9JC05
swissprot - C9JQM0
swissprot - H7C0X9
Ensembl - ENSG00000106025
  
Related genetic diseases (OMIM): 613310 - Exudative vitreoretinopathy 5, 613310
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
 tspan12ENSDARG00000032389Danio rerio
 Q5ZIF5ENSGALG00000009029Gallus gallus
 Q8BKT6ENSMUSG00000029669Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000301  Tetraspanin
 IPR008952  Tetraspanin, EC2 domain superfamily
 IPR018499  Tetraspanin/Peripherin
 IPR018503  Tetraspanin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0007166 cell surface receptor signaling pathway ISS
 biological_processGO:0010842 retina layer formation ISS
 biological_processGO:0045765 regulation of angiogenesis ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000594 Shallow anterior chamber 
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 HP:0007663 Decreased central vision 
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 HP:0007917 Tractional retinal detachment 
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 HP:0030490 Exudative vitreoretinopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr