ENSG00000070019
Homo sapiens | |
Features
| Gene ID: | ENSG00000070019 | | | | | Biological name : | GUCY2C | | | | | Synonyms : | guanylate cyclase 2C / GUCY2C / P25092 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | -1 | | Band: | p12.3 | | Gene start: | 14612632 | | Gene end: | 14696585 | | | | | Corresponding Affymetrix probe sets: | 206312_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000261170
NCBI entrez gene - 2984
See in Manteia.
OMIM - 601330
RefSeq - NM_004963
RefSeq - XM_011520631
RefSeq Peptide - NP_004954
swissprot - P25092
Ensembl - ENSG00000070019
| | | | | Related genetic diseases (OMIM): | 614616 - Diarrhea 6, 614616 | | | 614665 - Meconium ileus, 614665 |
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)
| IPR000719 | Protein kinase domain | | IPR001054 | Adenylyl cyclase class-3/4/guanylyl cyclase | | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain | | IPR011009 | Protein kinase-like domain superfamily | | IPR018297 | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | | IPR028082 | Periplasmic binding protein-like I | | IPR029787 | Nucleotide cyclase |
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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002027 | Abdominal pain | |
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| | HP:0004388 | Microcolon | |
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| | HP:0004401 | Meconium ileus | |
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| | HP:0100502 | Vitamin B12 deficiency | |
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Interacting proteins (from Reactome)
| ENSG00000070019 | GUCY2C / P25092 / guanylate cyclase 2C | / complex | | ENSG00000197273 | GUCA2A / Q02747 / guanylate cyclase activator 2A | / complex / reaction | | ENSG00000044012 | GUCA2B / Q16661 / guanylate cyclase activator 2B | / reaction / complex |
1 s.
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