GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) [Homo sapiens] - Gene

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Summary

Official Symbol: GUCY2Cprovided by HGNC
Official Full Name: guanylate cyclase 2C (heat stable enterotoxin receptor)provided by HGNC
Primary source: HGNC:4688
See related: Ensembl:ENSG00000070019; HPRD:07529; MIM:601330; Vega:OTTHUMG00000168732
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STAR; DIAR6; GUC2C

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Genomic context

Location :: 12p12

Sequence :: Chromosome: 12; NC_000012.11 (14765566..14849519, complement)

See GUCY2C in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We identified a heterozygous missense mutation (c.2519G-->T) in GUCY2C in all family members with familial diarrhea syndrome.
Title: Familial diarrhea syndrome caused by an activating GUCY2C mutation.
High guanylyl cyclase C is associated with colon cancer.
Title: Evaluation of guanylyl cyclase C lymph node status for colon cancer staging and prognosis.
Data suggest that monitoring the peripheral blood GCC expressions may allow employing different treatment options to metastatic CRC patients.
Title: Peripheral blood guanylyl cyclase c (GCC) expressions are associated with prognostic parameters and response to therapy in colorectal cancer patients.
Lymph nodes (range: 2-159) from 291 prospectively enrolled node-negative colorectal cancer patients were analyzed by histopathology and GUCY2C quantitative RT-PCR.
Title: Occult tumor burden predicts disease recurrence in lymph node-negative colorectal cancer.
Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C).
Title: Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.
Results suggest that GUCY2C quantitative reverse transcriptase (qRT)-PCR can be used to detect occult lymph node metastases in pN0 colorectal cancer patients.
Title: GUCY2C reverse transcriptase PCR to stage pN0 colorectal cancer patients.
GCC is a specific marker for differentiating primary and secondary metatstatic ovarian mucinous neoplasms.
Title: Guanylyl cyclase C is a specific marker for differentiating primary and metastatic ovarian mucinous neoplasms.
the role of the linker region in receptor guanylyl cyclases
Title: The linker region in receptor guanylyl cyclases is a key regulatory module: mutational analysis of guanylyl cyclase C.
docking of the c-src SH2 domain to phosphorylated GC-C results in colocalization and further activation of c-src.
Title: Cross talk between receptor guanylyl cyclase C and c-src tyrosine kinase regulates colon cancer cell cytostasis.
This validated assay is being applied to approximately 10,000 lymph nodes in a prospective trial to define the sensitivity of Guanylyl cyclase C(GCC) qRT-PCR for staging patients with colorectal cancer.
Title: A validated quantitative assay to detect occult micrometastases by reverse transcriptase-polymerase chain reaction of guanylyl cyclase C in patients with colorectal cancer.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P25092	Q02747	GUCA2A	HPRD	PubMed
P25092	Q86UT5	PDZD3	HPRD	PubMed
P25092	P12931	SRC	HPRD	PubMed
BioGRID:109239	BioGRID:122940	PDZD3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

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	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
toxin binding	IEA Inferred from Electronic Annotation more info
transferase activity, transferring phosphorus-containing groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cGMP biosynthetic process	TAS Traceable Author Statement more info	PubMed
intracellular signal transduction	IEA Inferred from Electronic Annotation more info
receptor guanylyl cyclase signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
response to toxin	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: heat-stable enterotoxin receptor

Names: heat-stable enterotoxin receptor; GC-C; hSTAR; STA receptor; guanylyl cyclase C; intestinal guanylate cyclase

NP_004954.2

EC 4.6.1.2

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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.

mRNA and Protein(s)

NM_004963.3 → NP_004954.2 heat-stable enterotoxin receptor precursor

Status: VALIDATED

Source sequence(s)

AC007545, AW848739, M73489, S57551

Consensus CDS

CCDS8664.1

UniProtKB/Swiss-Prot

P25092

Related

ENSP00000261170, OTTHUMP00000239321, ENST00000261170, OTTHUMT00000400835

Conserved Domains (6) summary

cd06369
Location:35 – 415
Blast Score: 1666

PBP1_GC_C_enterotoxin_receptor; Ligand-binding domain of the membrane guanylyl cyclase C

cd07302
Location:822 – 1000
Blast Score: 560

CHD; cyclase homology domain

smart00044
Location:788 – 979
Blast Score: 727

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

smart00221
Location:502 – 745
Blast Score: 274

STYKc; Protein kinase; unclassified specificity.

pfam01094
Location:53 – 384
Blast Score: 324

ANF_receptor; Receptor family ligand binding region

cl09925
Location:502 – 741
Blast Score: 301

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

14765566..14849519, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

14534894..14618836, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC007545.13 (8654..82795)	None
genomic	AC010168.6 (94679..104390)	None
genomic	CH471094.1	EAW96324.1
genomic	U20230.1	AAC50381.1
mRNA	AK310034.1	None
mRNA	AW848739.1	None
mRNA	BC136544.1	AAI36545.1
mRNA	BC136545.1	AAI36546.1
mRNA	M73489.1	AAA36655.1
mRNA	S57551.1	AAB19934.2