ENSG00000172867


Homo sapiens

Features
Gene ID: ENSG00000172867
  
Biological name :KRT2
  
Synonyms : keratin 2 / KRT2 / P35908
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 52644558
Gene end: 52652164
  
Corresponding Affymetrix probe sets: 207908_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000310861
NCBI entrez gene - 3849     See in Manteia.
OMIM - 600194
RefSeq - NM_000423
RefSeq Peptide - NP_000414
swissprot - P35908
Ensembl - ENSG00000172867
  
Related genetic diseases (OMIM): 146800 - Ichthyosis bullosa of Siemens, 146800
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
 Krt2ENSMUSG00000064201Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT77 / Q7Z794 / keratin 77ENSG0000018918253
KRT73 / Q86Y46 / keratin 73ENSG0000018604949
KRT74 / Q7RTS7 / keratin 74ENSG0000017048447
KRT72 / Q14CN4 / keratin 72ENSG0000017048646
KRT84 / Q9NSB2 / keratin 84ENSG0000016184940
KRT78 / Q8N1N4 / keratin 78ENSG0000017042338
KRT85 / P78386 / keratin 85ENSG0000013544337
KRT82 / Q9NSB4 / keratin 82ENSG0000016185036
KRT86 / O43790 / keratin 86ENSG0000017044235
KRT83 / P78385 / keratin 83ENSG0000017052335
KRT81 / Q14533 / keratin 81ENSG0000020542635
KRT80 / Q6KB66 / keratin 80ENSG0000016776730


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR003054  Keratin, type II
 IPR018039  Intermediate filament protein, conserved site
 IPR032444  Keratin type II head


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003334 keratinocyte development IEA
 biological_processGO:0008544 epidermis development IEA
 biological_processGO:0018149 peptide cross-linking IDA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0032980 keratinocyte activation IDA
 biological_processGO:0043616 keratinocyte proliferation IDA
 biological_processGO:0045109 intermediate filament organization IEA
 biological_processGO:0051546 keratinocyte migration IDA
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0001533 cornified envelope IDA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0045095 keratin filament IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030280 structural constituent of epidermis IDA


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:0000963 Thin skin 
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0007475 Epidermolytic hyperkeratosis 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008066 Abnormal blistering of the skin 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0100792 Acantolysis "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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