ENSG00000017260
Homo sapiens | |
Features
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)
| ATP2C2 / O75185 / ATPase secretory pathway Ca2+ transporting 2 | ENSG00000064270 | 62 | | ATP2A3 / Q93084 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 | ENSG00000074370 | 34 | | ATP2A2 / P16615 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | ENSG00000174437 | 34 | | ATP2A1 / O14983 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | ENSG00000196296 | 33 | | ATP1A2 / P50993 / ATPase Na+/K+ transporting subunit alpha 2 | ENSG00000018625 | 28 | | ATP1A3 / P13637 / ATPase Na+/K+ transporting subunit alpha 3 | ENSG00000105409 | 28 | | ATP4A / P20648 / ATPase H+/K+ transporting alpha subunit | ENSG00000105675 | 28 | | ATP1A4 / Q13733 / ATPase Na+/K+ transporting subunit alpha 4 | ENSG00000132681 | 28 | | ATP1A1 / P05023 / ATPase Na+/K+ transporting subunit alpha 1 | ENSG00000163399 | 28 | | AC010616.2 | ENSG00000285505 | 28 | | ATP12A / P54707 / ATPase H+/K+ transporting non-gastric alpha2 subunit | ENSG00000075673 | 26 |
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:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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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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| | HP:0200037 | skin vesicle | "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| | HP:0200041 | skin erosion | "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] |
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Interacting proteins (from Reactome)
No match
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