ENSG00000170835
Homo sapiens | |
Features
| Gene ID: | ENSG00000170835 | | | | | Biological name : | CEL | | | | | Synonyms : | carboxyl ester lipase / CEL | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | 1 | | Band: | q34.13 | | Gene start: | 133061978 | | Gene end: | 133071861 | | | | | Corresponding Affymetrix probe sets: | 1553970_s_at (Human Genome U133 Plus 2.0 Array) 205910_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000361151
NCBI entrez gene - 1056
See in Manteia.
OMIM - 114840
RefSeq - NM_001807
RefSeq Peptide - NP_001798
swissprot - X6R868
Ensembl - ENSG00000170835
| | | | | Related genetic diseases (OMIM): | 609812 - Maturity-onset diabetes of the young, type VIII, 609812 |
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)
No match
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:0002027 | Abdominal pain | |
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| | HP:0004904 | Insulin-dependent maturity-onset diabetes of the young | |
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| | HP:0012092 | Abnormality of exocrine pancreas physiology | "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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