GUCY2C
entrez
2984
canonical
uniprot
P25092
canonical
ensembl
ENSG00000070019
resolver
ensp
ENSP00000261170
resolver
ensp
ENSP00000640843
resolver
enst
ENST00000261170
resolver
genesymbol
GUCY2C
resolver
genesymbol_syn
GUC2C
resolver
genesymbol_syn
STAR
resolver
hgnc
HGNC:4688
resolver
uniprot
B2RMY6
resolver
uniprot_entry
GUC2C_HUMAN
resolver
uniprot_sec
B2RMY6
resolver
amino_acid_sequence
MKTLLLDLALWSLLFQPGWLSFSSQVSQNCHNGSYEISVLMMGNSAFAEPLKNLEDAVNEGLEIVRGRLQNAGLNVTVNATFMYSDGLIHNSGDCRSSTCEGLDLLRKISNAQRMGCVLIGPSCTYSTFQMYLDTELSYPMISAGSFGLSCDYKETLTRLMSPARKLMYFLVNFWKTNDLPFKTYSWSTSYVYKNGTETEDCFWYLNALEASVSYFSHELGFKVVLRQDKEFQDILMDHNRKSNVIIMCGGPEFLYKLKGDRAVAEDIVIILVDLFNDQYFEDNVTAPDYMKNVLVLTLSPGNSLLNSSFSRNLSPTKRDFALAYLNGILLFGHMLKIFLENGENITTPKFAHAFRNLTFEGYDGPVTLDDWGDVDSTMVLLYTSVDTKKYKVLLTYDTHVNKTYPVDMSPTFTWKNSKLPNDITGRGPQILMIAVFTLTGAVVLLLLVALLMLRKYRKDYELRQKKWSHIPPENIFPLETNETNHVSLKIDDDKRRDTIQRLRQCKYDKKRVILKDLKHNDGNFTEKQKIELNKLLQIDYYNLTKFYGTVKLDTMIFGVIEYCERGSLREVLNDTISYPDGTFMDWEFKISVLYDIAKGMSYLHSSKTEVHGRLKSTNCVVDSRMVVKITDFGCNSILPPKKDLWTAPEHLRQANISQKGDVYSYGIIAQEIILRKETFYTLSCRDRNEKIFRVENSNGMKPFRPDLFLETAEEKELEVYLLVKNCWEEDPEKRPDFKKIETTLAKIFGLFHDQKNESYMDTLIRRLQLYSRNLEHLVEERTQLYKAERDRADRLNFMLLPRLVVKSLKEKGFVEPELYEEVTIYFSDIVGFTTICKYSTPMEVVDMLNDIYKSFDHIVDHHDVYKVETIGDAYMVASGLPKRNGNRHAIDIAKMALEILSFMGTFELEHLPGLPIWIRIGVHSGPCAAGVVGIKMPRYCLFGDTVNTASRMESTGLPLRIHVSGSTIAILKRTECQFLYEVRGETYLKGRGNETTYWLTGMKDQKFNLPTPPTVENQQRLQAEFSDMIANSLQKRQAAGIRSQKPRRVASYKKGTLEYLQLNTTDKESTYF
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 6 (DIAR6) [MIM:614616]: A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. {ECO:0000269|PubMed:22436048}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meconium ileus (MECIL) [MIM:614665]: A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis. {ECO:0000269|PubMed:22521417}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.6.1.2
uniprot
proteins
function
FUNCTION: Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:11950846, PubMed:1718270, PubMed:22436048, PubMed:22521417, PubMed:23269669). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1680854, PubMed:1718270). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596). {ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:1680854, ECO:0000269|PubMed:1718270, ECO:0000269|PubMed:22436048, ECO:0000269|PubMed:22521417, ECO:0000269|PubMed:23269669, ECO:0000269|PubMed:8381596}.
uniprot
proteins
mass_dalton
123403
uniprot
proteins
post_translational_modification
PTM: Glycosylation at Asn-75 and/or Asn-79 is required for interaction with VIP36 while glycosylation at Asn-345 and Asn-402 modulates ligand-mediated GUCY2C activation. {ECO:0000269|PubMed:23269669}.
uniprot
proteins
protein_family
Adenylyl cyclase class-4/guanylyl cyclase family
uniprot
proteins
pubmed
11123935
uniprot
proteins
pubmed
11950846
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
1680854
uniprot
proteins
pubmed
1718270
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
22436048
uniprot
proteins
pubmed
22521417
uniprot
proteins
pubmed
23269669
uniprot
proteins
pubmed
8381596
uniprot
proteins
pubmed
8605253
uniprot
proteins
sequence_length
1073
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269|PubMed:23269669}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269|PubMed:23269669}. Note=The 145 kDa plasma membrane form of GUCY2C contains sialic acid and galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in the endoplasmic reticulum and may serve as the precursor for the cell surface form. {ECO:0000269|PubMed:23269669}.
uniprot
proteins
transmembrane_region
TRANSMEM 431..454; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins