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  2. GUCY2C - guanylate cyclase 2C Gene

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

GUCY2C Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (55 - 384)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (507 - 744)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (816 - 1001)

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  • 1073 a.a.
Protein Preferred Names Protein Names

guanylyl cyclase C

STA receptor

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

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
Others GUCY2C NCBI