GUCA2B guanylate cyclase activator 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUCA2Bprovided by HGNC
Official Full Name: guanylate cyclase activator 2Bprovided by HGNC
Primary source: HGNC:HGNC:4683
See related: Ensembl:ENSG00000044012 MIM:601271; AllianceGenome:HGNC:4683
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: UGN; GCAP-II
Summary: This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand of the guanylate cyclase-C receptor. Binding of this peptide to its cognate receptor stimulates an increase in cyclic GMP and may regulate salt and water homeostasis in the intestine and kidneys. [provided by RefSeq, Nov 2015]
Expression: Biased expression in small intestine (RPKM 47.4), colon (RPKM 37.0) 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 (42153410..42155820)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (42024047..42026457)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (42619081..42621491)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

High plasma and lingual uroguanylin as potential contributors to changes in food preference after sleeve gastrectomy.
Title: High plasma and lingual uroguanylin as potential contributors to changes in food preference after sleeve gastrectomy.
This study investigates pro-uroguanylin circulating levels in children with obesity and its relationship with obesity, sex and pubertal development. Sexual dimorphism exists in circulating pro-uroguanylin levels with respect to Body Mass Index.
Title: Circulating Pro-Uroguanylin Levels In Children And Their Relation To Obesity, Sex And Puberty.
The intestinal expression of uroguanylin, a key satiety hormone, appears to be diminished in female pediatric patients in the setting of obesity.
Title: Immunohistochemical Staining for Uroguanylin, a Satiety Hormone, is Decreased in Intestinal Tissue Specimens From Female Adolescents With Obesity.
In female adolescents without obesity, levels of pro-uroguanylin are higher than in those with obesity. Pro-uroguanylin secretion patterns differ from other circulating gastrointestinal peptides. In female adolescents with obesity, inflammation correlates with decreased pro-uroguanylin levels.
Title: Pilot Study Measuring the Novel Satiety Hormone, Pro-Uroguanylin, in Adolescents With and Without Obesity.
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 simulations suggested that all missense SNPs considered as convergent deleterious caused some kind of structural change to the uroguanylin peptide. Additionally, four of these SNPs were also shown to cause modifications in peptide flexibility, possibly resulting in functional changes.
Title: Structural impact analysis of missense SNPs present in the uroguanylin gene by long-term molecular dynamics simulations.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Haplotype-based case-control study of the association between the guanylate cyclase activator 2B (GUCA2B, Uroguanylin) gene and essential hypertension.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481797

NoName (e-PCR)
- UniSTS:483207

SHGC-74666 (e-PCR)
- UniSTS:51595

RH91811 (e-PCR)
- UniSTS:85165

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanylate cyclase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanylate cyclase activator 2B

Names: prepro-uroguanylin; uroguanylin

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.