ENSG00000187242


Homo sapiens

Features
Gene ID: ENSG00000187242
  
Biological name :KRT12
  
Synonyms : keratin 12 / KRT12 / Q99456
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.2
Gene start: 40861303
Gene end: 40867210
  
Corresponding Affymetrix probe sets: 207811_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000251643
NCBI entrez gene - 3859     See in Manteia.
OMIM - 601687
RefSeq - NM_000223
RefSeq Peptide - NP_000214
swissprot - Q99456
Ensembl - ENSG00000187242
  
Related genetic diseases (OMIM): 122100 - Meesmann corneal dystrophy, 122100
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
 cyt1ENSDARG00000092947Danio rerio
 cyt1lENSDARG00000036832Danio rerio
 krt1-19dENSDARG00000023082Danio rerio
 krt15ENSDARG00000036840Danio rerio
 krt17ENSDARG00000094041Danio rerio
 krt91ENSDARG00000036830Danio rerio
 krt92ENSDARG00000036834Danio rerio
 krt93ENSDARG00000044976Danio rerio
 krt94ENSDARG00000044975Danio rerio
 krt95ENSDARG00000014356Danio rerio
 krt96ENSDARG00000095147Danio rerio
 krt97ENSDARG00000000212Danio rerio
 krtt1c19eENSDARG00000090268Danio rerio
 si:ch211-156l18.7ENSDARG00000022334Danio rerio
 KRT12ENSGALG00000019715Gallus gallus
 Krt12ENSMUSG00000020912Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT24 / Q2M2I5 / keratin 24ENSG0000016791656
KRT10 / P13645 / keratin 10ENSG0000018639556
KRT16 / P08779 / keratin 16ENSG0000018683252
KRT14 / P02533 / keratin 14ENSG0000018684751
KRT15 / P19012 / keratin 15ENSG0000017134650
KRT28 / Q7Z3Y7 / keratin 28ENSG0000017390849
KRT13 / P13646 / keratin 13ENSG0000017140149
KRT17 / Q04695 / keratin 17ENSG0000012842248
KRT27 / Q7Z3Y8 / keratin 27ENSG0000017144647
KRT19 / P08727 / keratin 19ENSG0000017134546
KRT25 / Q7Z3Z0 / keratin 25ENSG0000020489745
KRT26 / Q7Z3Y9 / keratin 26ENSG0000018639345


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR002957  Keratin, type I
 IPR018039  Intermediate filament protein, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity NAS


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


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: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:0001131 Corneal dystrophy 
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 HP:0003680 Nonprogressive disorder 
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 HP:0007663 Decreased central vision 
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 HP:0007856 Fine punctate corneal opacities 
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 HP:0009926 Increased tear production "Abnormally in creased lacrimation." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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