GUCA2A guanylate cyclase activator 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUCA2Aprovided by HGNC
Official Full Name: guanylate cyclase activator 2Aprovided by HGNC
Primary source: HGNC:HGNC:4682
See related: Ensembl:ENSG00000197273 MIM:139392; AllianceGenome:HGNC:4682
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: GUCA2; STARA; GCAP-I
Summary: Predicted to enable guanylate cyclase activator activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in small intestine (RPKM 352.1), colon (RPKM 198.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (42162690..42164745, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (42033343..42035398, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (42628361..42630416, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

APC-beta-catenin-TCF signaling silences the intestinal guanylin-GUCY2C tumor suppressor axis.
Title: APC-β-catenin-TCF signaling silences the intestinal guanylin-GUCY2C tumor suppressor axis.
Guanylin and uroguanylin, as well as their prohormones, do not seem to play a significant role in body weight regulation and glycemic control, suggesting that guanylin-family peptides do not show promise as targets for the treatment of obesity or diabetes.
Title: Guanylin and uroguanylin mRNA expression is increased following Roux-en-Y gastric bypass, but guanylins do not play a significant role in body weight regulation and glycemic control.
Both guanylin and uroguanylin trigger lipolysis in human visceral adipocytes. Given the lipolytic action of the guanylin system on visceral adipocytes, the herein reported decrease of circulating prouroguanylin concentrations in obese patients may have a role in excessive fat accumulation in obesity.
Title: Guanylin and uroguanylin stimulate lipolysis in human visceral adipocytes.
Results demonstrate that GC-C and its ligands, guanylin and uroguanylin are downregulated in ulcerative colitis (UC), and this downregulation is more significant with aggravation of the clinical condition. Therefore, the GC-C signaling pathway may be implicated in the progression of UC.
Title: Expression of guanylate cyclase-C, guanylin, and uroguanylin is downregulated proportionally to the ulcerative colitis disease activity index.
The specific cellular distribution of both GN and UGN differs between duodenum and colon and between human and rat intestines.
Title: Cellular localization of guanylin and uroguanylin mRNAs in human and rat duodenal and colonic mucosa.
In summary the structural analysis of missense SNPs is important to decrease the number of potential mutations to be in vitro evaluated for associating them with some genetic diseases
Title: Computational analyses and prediction of guanylin deleterious SNPs.
There is differential expression of guanylin in colorectal cancer, and the differential expression is associated with tumor stage.
Title: [Differential expression of guanylin in colorectal cancer].
The myristoylated wild-type GCAP1 was found to have the highest Ca(2+) affinity and thermal stability.
Title: Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy.
guanylin as a significant marker in salivary gland tumor pathology
Title: Guanylin and functional coupling proteins in the human salivary glands and gland tumors : expression, cellular localization, and target membrane domains.
Guanylin plays a role in the regulation of ion transport in the colon
Title: Guanylin and E. coli heat-stable enterotoxin induce chloride secretion through direct interaction with basolateral compartment of rat and human colonic cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag interacts with GUCA2A as demonstrated by proximity dependent biotinylation proteomics	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69208 (e-PCR)
- UniSTS:69434

NoName (e-PCR)
- UniSTS:482707

SHGC-12776 (e-PCR)
- UniSTS:51378

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanylate cyclase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activator activity	NAS Non-traceable Author Statement more info	PubMed
enables hormone activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanylin

Names: guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable); guanylate cyclase-activating protein 1; guanylate cyclase-activating protein I; prepro-guanylin

NCBI Reference Sequences (RefSeq)

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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.