GUCY2C (guanylate cyclase 2C)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2984
Gene name Guanylate cyclase 2C
Gene symbol GUCY2C
Synonyms (NCBI Gene)
DIAR6GC-CGCCGUC2CHSERMECILMUCILSTAR
Chromosome 12
Chromosome location 12p12.3
Summary This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutati
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1038451 hsa-miR-3163 CLIP-seq
MIRT1038452 hsa-miR-3646 CLIP-seq
MIRT1038453 hsa-miR-3977 CLIP-seq
MIRT1038454 hsa-miR-4668-3p CLIP-seq
MIRT1038455 hsa-miR-544 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CDX2 Unknown 11684084
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001653 Function Peptide receptor activity IBA
GO:0004383 Function Guanylate cyclase activity IBA
GO:0004383 Function Guanylate cyclase activity IDA 11950846
GO:0004383 Function Guanylate cyclase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601330 4688 ENSG00000070019
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25092
Protein name Guanylyl cyclase C (GC-C) (EC 4.6.1.2) (Heat-stable enterotoxin receptor) (STA receptor) (hSTAR) (Intestinal guanylate cyclase)
Protein 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
PDB 8FX4 , 8GHO , 8GHP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 499 → 745 Protein tyrosine and serine/threonine kinase Domain
PF00211 Guanylate_cyc 815 → 1002 Adenylate and Guanylate cyclase catalytic domain Domain
Sequence 
MKTLLLDLALWSLLFQPGWLSFSSQVSQNCHNGSYEISVLMMGNSAFAEPLKNLEDAVNE
GLEIVRGRLQNAGLNVTVNATFMYSDGLIHNSGDCRSSTCEGLDLLRKISNAQRMGCVLI
GPSCTYSTFQMYLDTELSYPMISAGSFGLSCDYKETLTRLMSPARKLMYFLVNFWKTNDL
PFKTYSWSTSYVYKNGTETEDCFWYLNALEASVSYFSHELGFKVVLRQDKEFQDILMDHN
RKSNVIIMCGGPEFLYKLKGDRAVAEDIVIILVDLFNDQYFEDNVTAPDYMKNVLVLTLS
PGNSLLNSSFSRNLSPTKRDFALAYLNGILLFGHMLKIFLENGENITTPKFAHAFRNLTF
EGYDGPVTLDDWGDVDSTMVLLYTSVDTKKYKVLLTYDTHVNKTYPVDMSPTFTWKNSKL
PNDITGRGPQILMIAVFTLTGAVVLLLLVALLMLRKYRKDYELRQKKWSHIPPENIFPLE
TNETNHVSLKIDDDKRRDTIQRLRQCKYDKKRVILKDLKHNDGNFTEKQKIELNKLLQID
YYNLTKFYGTVKLDTMIFGVIEYCERGSLREVLNDTISYPDGTFMDWEFKISVLYDIAKG
MSYLHSSKTEVHGRLKSTNCVVDSRMVVKITDFGCNSILPPKKDLWTAPEHLRQANISQK
GDVYSYGIIAQEIILRKETFYTLSCRDRNEKIFRVENSNGMKPFRPDLFLETAEEKELEV
YLLVKNCWEEDPEKRPDFKKIETTLAKIFGLFHDQKNESYMDTLIRRLQLYSRNLEHLVE
ERTQLYKAERDRADRLNFMLLPRLVVKSLKEKGFVEPELYEEVTIYFSDIVGFTTICKYS
TPMEVVDMLNDIYKSFDHIVDHHDVYKVETIGDAYMVASGLPKRNGNRHAIDIAKMALEI
LSFMGTFELEHLPGLPIWIRIGVHSGPCAAGVVGIKMPRYCLFGDTVNTASRMESTGLPL
RIHVSGSTIAILKRTECQFLYEVRGETYLKGRGNETTYWLTGMKDQKFNLPTPPTVENQQ
RLQAEFSDMIANSLQKRQAAGIRSQKPRRVASYKKGTLEYLQLNTTDKESTYF
Sequence length 1073
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
Hormone signaling 		  Digestion
Intestinal infectious diseases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal biliary tract morphology Pathogenic rs1057519441 RCV000416478
Asplenia Pathogenic rs1057519441 RCV000416478
Congenital diarrhea 6 Likely pathogenic; Pathogenic rs2497633967, rs587776871, rs1947002584 RCV004017208
RCV000023094
RCV001197421
Duodenal atresia Pathogenic rs1057519441 RCV000416478
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs115242718 RCV005914174
Clear cell carcinoma of kidney Benign rs7966185 RCV005909790
Colon adenocarcinoma Benign rs7966185 RCV005909789
Colorectal cancer Benign rs7966185 RCV005909791
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19800103
Arthritis Associate 25994218
Calcinosis Cutis Associate 21901559, 8962140
Carcinogenesis Associate 18566015, 34632925, 34954189
Carcinogenesis Inhibit 25304930
Carcinoma Medullary Associate 19800103
Carcinoma Signet Ring Cell Inhibit 19800103
Colonic Neoplasms Associate 8962140
Colorectal Neoplasms Associate 10206298, 10531324, 12594332, 16049286, 19224751, 19800103, 19895223, 21275338, 21702043, 21887684, 21901559, 25304930, 28504051, 34954189, 8962140
Colorectal Neoplasms Inhibit 18566015