ENSG00000170465
Homo sapiens | |
Features
| Gene ID: | ENSG00000170465 | | | | | Biological name : | KRT6C | | | | | Synonyms : | keratin 6C / KRT6C / P48668 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | -1 | | Band: | q13.13 | | Gene start: | 52468516 | | Gene end: | 52473785 | | | | | Corresponding Affymetrix probe sets: | | | | | | Cross references: | Ensembl peptide - ENSP00000252250
NCBI entrez gene - 286887
See in Manteia.
OMIM - 612315
RefSeq - NM_173086
RefSeq Peptide - NP_775109
swissprot - P48668
Ensembl - ENSG00000170465
| | | | | Related genetic diseases (OMIM): | 615735 - Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 |
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)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| 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:0000982 | Palmoplantar keratoderma | |
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| | HP:0025092 | Epidermal acanthosis | "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] |
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Interacting proteins (from Reactome)
No match
0 s.
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