ENSG00000145244
Homo sapiens | |
Features
| Gene ID: | ENSG00000145244 | | | | | Biological name : | CORIN | | | | | Synonyms : | CORIN / corin, serine peptidase / Q9Y5Q5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | -1 | | Band: | p12 | | Gene start: | 47593998 | | Gene end: | 47838106 | | | | | Corresponding Affymetrix probe sets: | 220356_at (Human Genome U133 Plus 2.0 Array) 239260_at (Human Genome U133 Plus 2.0 Array) 239261_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000425597
Ensembl peptide - ENSP00000484087
Ensembl peptide - ENSP00000423216
Ensembl peptide - ENSP00000273857
Ensembl peptide - ENSP00000424212
Ensembl peptide - ENSP00000425401
NCBI entrez gene - 10699
See in Manteia.
OMIM - 605236
RefSeq - NM_001278585
RefSeq - NM_006587
RefSeq - NM_001278586
RefSeq Peptide - NP_001265515
RefSeq Peptide - NP_001265514
RefSeq Peptide - NP_006578
swissprot - Q9Y5Q5
swissprot - A0A087X1D5
swissprot - E7EQE7
swissprot - J3KR83
swissprot - J3KR88
swissprot - J3KR90
Ensembl - ENSG00000145244
| | | | | Related genetic diseases (OMIM): | 614595 - Preeclampsia/eclampsia 5, 614595 |
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)
| IPR001254 | Serine proteases, trypsin domain | | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat | | IPR009003 | Peptidase S1, PA clan | | IPR017052 | Atrial natriuretic peptide-converting enzyme corin | | IPR017448 | SRCR-like domain | | IPR020067 | Frizzled domain | | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR036055 | LDL receptor-like superfamily | | IPR036772 | SRCR-like domain superfamily | | IPR036790 | Frizzled cysteine-rich domain superfamily |
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:0100601 | Ecplampsia | "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [HPO:sdoelken] |
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| | HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
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Interacting proteins (from Reactome)
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