GUCY2C - guanylate cyclase 2C Gene

Homo sapiens

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

Gene ID: 2984 | Gene type: protein coding

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	Reference	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.	Product Name	Accession	Purity
HY-P77942	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, Fc)	P25092 (S24-Q430)	≥95%
HY-P77943	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, His-Avi)	P25092 (S24-Q430)	≥95%
HY-P77944	GUCY2C/Guanylyl cyclase C Protein, Human (Biotinylated, HEK293, His-Avi)	P25092 (S24-Q430)	≥95%
HY-P700415	GUCY2C/Guanylyl cyclase C Protein, Human (HEK293, N-His)	P25092 (S24-Q430)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05921	GUCY2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	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
Macaca fascicularis	GUCY2C	NCBI	NCBI:102130850
Others	GUCY2C	NCBI

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