GUCY2C - guanylate cyclase 2C Gene

Also Known as GC-C; STAR; DIAR6; GUC2C; MECIL; MUCIL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2984

About GUCY2C

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,612,632-14,696,599 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues, 17 paralogues and is associated with 7 phenotypes. Biased expression in duodenum (RPKM 36.3), small intestine (RPKM 36.1) and 2 other tissues.

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. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]

GUCY2C Products (1)

mRNA	Protein	Name
NM_004963.4	NP_004954.2	guanylyl cyclase C precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables guanylate cyclase activity	IDA IDA: Inferred from direct assay	11950846	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11950846	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GUCY2C Protein Structure

ANF_receptor

Pkinase_Tyr

Guanylate_cyc

0
200
400
600
800
1000
1073 a.a.

Protein Preferred Names	Protein Names
guanylyl cyclase C	STA receptor

Recombinant GUCY2C Proteins

Cat. No.	상품명	Accession	Purity
HY-P77942	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, Fc)	P25092 (S24-Q430)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P77943	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, His-Avi)	P25092 (S24-Q430)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P77944	GUCY2C/Guanylyl cyclase C Protein, Human (Biotinylated, HEK293, His-Avi)	P25092 (S24-Q430)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78866	GUCY2C/Guanylyl cyclase C Protein, Human (Biotinylated, HEK293, Fc-Avi)	P25092 (S24-Q430)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700415	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, N-His)	P25092 (S24-Q430)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Meconium Ileus	Intestinal Obstruction In The Newborn Due To Guanylate Cyclase 2c Deficiency Meconium Ileus Due To Guanylate Cyclase 2c Deficiency MECIL Ileus Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Meconium Ileus Nos
Diarrhea 6	DIAR6 Chronic Infantile Diarrhea Due To Guanylate Cyclase 2c Overactivity Diarrhea, Type 6
Chronic Diarrhea Due To Guanylate Cyclase 2c Overactivity	Congenital Diarrhea 6 Diarrhea 6 Chronic Diarrhoea Due To Guanylate Cyclase 2c Overactivity Congenital Diarrhoea 6
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Diarrhea 3, Secretory Sodium, Congenital, Syndromic Congenital Secretory Sodium Diarrhea 3 Congenital Sodium Diarrhea DIAR3 Csd Sodium Diarrhea, Congenital Congenital Secretory Sodium Diarrhea 3 Syndromic Congenital Secretory Sodium Diarrhea 3 With Or Without Other Congenital Anomalies Congenital Secretory Sodium Diarrhoea 3 Congenital Secretory Sodium Diarrhoea 3 Syndromic Congenital Secretory Sodium Diarrhoea 3 With Or Without Other Congenital Anomalies Na-H Exchange Deficiency Non-Syndromic Congenital Sodium Diarrhea Diarrhea, Type 3, Secretory Sodium, Congenital, Syndromic Congenital Secretory Diarrhea, Sodium Type
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Ileus	Ileus Of Intestine
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Anismus
Large Intestine Adenoma	Adenoma Of Large Intestine
Secretory Diarrhea
Diarrhea 8, Secretory Sodium, Congenital	Congenital Secretory Sodium Diarrhea 8 DIAR8 Diarrhea, Congenital Sodium Csd Congenital Secretory Diarrhea, Sodium Type
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Volvulus Of Midgut	Volvulus Intestinal Volvulus Intestinal Malrotation, Familial Familial Intestinal Malrotation Twist Of Intestine, Bowel, Or Colon
Enterocele	Vaginal Enterocele Hernia Hernias
Prolapse Of Female Genital Organ
Acute Diarrhea
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Familial Intestinal Polyatresia Syndrome Fipa Gastrointestinal Defects And Immunodeficiency Syndrome Multiple Gastrointestinal Atresias Familial Isolated Pituitary Adenoma Intestinal Atresia, Multiple Multiple Intestinal Atresia GIDID1 Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Minat Gidid Meddra:10028210 Familial Isolated Pituitary Adenoma Syndrome Intestinal Atresia Multiple Combined Immunodeficiency-Enteropathy Spectrum Cid-Mia/Early-Onset Ibd Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Mia Gastrointestinal Defect And Immunodeficiency Syndrome Pituitary Adenoma Predisposition Pituitary Adenoma, Familial Isolated
Constipation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-175615A	RSL3-NH2 hydrochloride		/	Unkown
HY-175615	RSL3-NH2		/	Unkown
HY-RS05921	GUCY2C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16946	Gucy2c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23389	Gucy2c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P99232	Indusatumab		≥99.0%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GUCY2C	VGNC	VGNC:108346
Canis familiaris	GUCY2C	VGNC	VGNC:41569
Rattus norvegicus	GUCY2C	RGD	RGD:2771
Mus musculus	GUCY2C	MGD	MGI:106903
Bos taurus	GUCY2C	VGNC	VGNC:29722
Felis catus	GUCY2C	VGNC	VGNC:67516
Others	GUCY2C	NCBI