ENSG00000205155
Homo sapiens | |
Features
| Gene ID: | ENSG00000205155 | | | | | Biological name : | PSENEN | | | | | Synonyms : | presenilin enhancer gamma-secretase subunit / PSENEN / Q9NZ42 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | 1 | | Band: | q13.12 | | Gene start: | 35745114 | | Gene end: | 35747519 | | | | | Corresponding Affymetrix probe sets: | 218302_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000468411
Ensembl peptide - ENSP00000222266
Ensembl peptide - ENSP00000468593
NCBI entrez gene - 55851
See in Manteia.
OMIM - 607632
RefSeq - NM_172341
RefSeq - NM_001281532
RefSeq Peptide - NP_001268461
RefSeq Peptide - NP_758844
swissprot - Q9NZ42
swissprot - K7ES79
Ensembl - ENSG00000205155
| | | | | Related genetic diseases (OMIM): | 613736 - Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 |
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)
| IPR019379 | Gamma-secretase aspartyl protease complex, presenilin enhancer-2 subunit |
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:0011132 | Chronic furunculosis | "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson] |
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| | HP:0012322 | Perifolliculitis | "Inflammation surrounding hair follicles." [HPO:probinson] |
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| | HP:0040154 | Acne inversa | |
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| | HP:0100838 | Recurrent cutaneous abscess formation | "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] |
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Interacting proteins (from Reactome)
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