GUCY2F guanylate cyclase 2F, retinal [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUCY2Fprovided by HGNC
Official Full Name: guanylate cyclase 2F, retinalprovided by HGNC
Primary source: HGNC:HGNC:4691
See related: Ensembl:ENSG00000101890 MIM:300041; AllianceGenome:HGNC:4691
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: CYGF; GC-F; GUC2F; GUC2DL; RETGC-2; ROS-GC2
Summary: The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.3-q23

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (109372906..109482086, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (107820404..107929552, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (108616135..108725315, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Title: Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic mutations associated with cigarette smoking in pancreatic cancer.
Mutants of GC-activating protein 2 modulated ROS-GC2 in a manner different from their action on ROS-GC1 indicating that the Ca2+ sensitivity of the Ca2+ sensor is controlled by the mode of target-sensor interaction.
Title: Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments.
Results show GUCY2F gene was implicated in the pathogenesis of breast, lung, and pancreatic cancers and it may be useful targets for diagnostic and therapeutic intervention in selected patients.
Title: Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.

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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

RH123533 (e-PCR)
- UniSTS:135954

BKT58 (e-PCR)
- UniSTS:256926

BKT59 (e-PCR)
- UniSTS:256927

AL035131 (e-PCR)
- UniSTS:94641

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables adenylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	TAS Traceable Author Statement more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IEA Inferred from Electronic Annotation more info
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of opsin-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear outer membrane	TAS Traceable Author Statement more info	PubMed
located_in photoreceptor disc membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in rod photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: retinal guanylyl cyclase 2

Names: guanylate cyclase 2D-like, membrane (retina-specific); guanylate cyclase F; rod outer segment membrane guanylate cyclase 2

NP_001513.2

EC 4.6.1.2

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.

Genomic

NG_009175.1 RefSeqGene

Range

4971..114151

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001522.3 → NP_001513.2 retinal guanylyl cyclase 2

Status: REVIEWED

Source sequence(s)

AL031387, L37378

Consensus CDS

CCDS14545.1

UniProtKB/Swiss-Prot

P51841, Q9UJF1

Related

ENSP00000218006.2, ENST00000218006.3

Conserved Domains (6) summary

cd06371
Location:54 → 435

PBP1_sensory_GC_DEF_like; Ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues

smart00044
Location:848 → 1040

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

pfam00211
Location:875 → 1062

Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain

pfam01094
Location:75 → 412

ANF_receptor; Receptor family ligand binding region

pfam07701
Location:824 → 869

HNOBA; Heme NO binding associated

cl21453
Location:545 → 815

PKc_like; Protein Kinases, catalytic domain