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GUCY2C guanylate cyclase 2C [ Homo sapiens (human) ]

Gene ID: 2984, updated on 24-Nov-2020

Summary

Official Symbol
GUCY2Cprovided by HGNC
Official Full Name
guanylate cyclase 2Cprovided by HGNC
Primary source
HGNC:HGNC:4688
See related
Ensembl:ENSG00000070019 MIM:601330
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GC-C; STAR; DIAR6; GUC2C; MECIL; MUCIL
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]
Expression
Biased expression in duodenum (RPKM 36.3), small intestine (RPKM 36.1) and 2 other tissues See more
Orthologs

Genomic context

See GUCY2C in Genome Data Viewer
Location:
12p12.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (14612632..14696625, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14765566..14849519, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928317 Neighboring gene phospholipase B domain containing 1 Neighboring gene RN7SK pseudogene 134 Neighboring gene PLBD1 antisense RNA 1 Neighboring gene chromosome 12 open reading frame 60 Neighboring gene uncharacterized LOC105369669 Neighboring gene H4 histone 16

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diarrhea 6
MedGen: C3553270 OMIM: 614616 GeneReviews: Not available
Compare labs
Meconium ileus
MedGen: C2939175 OMIM: 614665 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-09-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-09-18)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
natriuretic peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
toxic substance binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cGMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
digestion TAS
Traceable Author Statement
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
heat-stable enterotoxin receptor
Names
STA receptor
guanylyl cyclase C
intestinal guanylate cyclase
NP_004954.2
XP_011518933.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052021.1 RefSeqGene

    Range
    4987..88954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004963.4NP_004954.2  heat-stable enterotoxin receptor precursor

    See identical proteins and their annotated locations for NP_004954.2

    Status: REVIEWED

    Source sequence(s)
    AC007545, AC010168, AW848739, M73489, S57551
    Consensus CDS
    CCDS8664.1
    UniProtKB/Swiss-Prot
    P25092
    Related
    ENSP00000261170.3, ENST00000261170.5
    Conserved Domains (5) summary
    cd06369
    Location:35415
    PBP1_GC_C_enterotoxin_receptor; Ligand-binding domain of the membrane guanylyl cyclase C
    smart00044
    Location:788979
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14044
    Location:480750
    PK_GC-C; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-C
    pfam00211
    Location:8151002
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07714
    Location:502745
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    14612632..14696625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520631.2XP_011518933.1  heat-stable enterotoxin receptor isoform X1

    Conserved Domains (5) summary
    smart00044
    Location:706897
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14044
    Location:398668
    PK_GC-C; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-C
    pfam00211
    Location:733920
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07714
    Location:420663
    Pkinase_Tyr; Protein tyrosine kinase
    cl10011
    Location:1333
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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