ENSG00000162438
 Homo sapiens | |
Features
Gene ID: | ENSG00000162438 | | | Biological name : | CTRC | | | Synonyms : | chymotrypsin C / CTRC / Q99895 | | | Possible biological names infered from orthology : | | | | Species: | Homo sapiens | | | Chr. number: | 1 | Strand: | 1 | Band: | p36.21 | Gene start: | 15438439 | Gene end: | 15449242 | | | Corresponding Affymetrix probe sets: | 206297_at (Human Genome U133 Plus 2.0 Array) | | | Cross references: | Ensembl peptide - ENSP00000365110 Ensembl peptide - ENSP00000365116 NCBI entrez gene - 11330
See in Manteia.
OMIM - 601405 RefSeq - XM_011540550 RefSeq - NM_007272 RefSeq Peptide - NP_009203 swissprot - Q68DR9 swissprot - Q99895 Ensembl - ENSG00000162438
| | | Related genetic diseases (OMIM): | 167800 - {Pancreatitis, chronic, susceptibility to}, 167800 | 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 | IPR001314 | Peptidase S1A, chymotrypsin family | IPR009003 | Peptidase S1, PA clan | IPR018114 | Serine proteases, trypsin family, histidine active site | IPR033116 | Serine proteases, trypsin family, serine active site |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
HP:0000819 | Diabetes mellitus | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002027 | Abdominal pain | |
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| HP:0005213 | Pancreatic calcification | |
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| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] |
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| HP:0012379 | Abnormal enzyme/coenzyme activity | "An altered ability of any enzyme or their cofactors to act as catalysts." [HPO:probinson, MP:0005584] |
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| HP:0030247 | Splanchnic vein thrombosis | "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] |
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| HP:0100027 | Recurrent pancreatitis | "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson] |
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Interacting proteins (from Reactome)
1 s.
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