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

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Summary

Official Symbol: GUCY2Fprovided by HGNC
Official Full Name: guanylate cyclase 2F, retinalprovided by HGNC
Primary source: HGNC:4691
See related: Ensembl:ENSG00000101890; HPRD:02078; MIM:300041; Vega:OTTHUMG00000022184
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]

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Genomic context

Location :: Xq22

Sequence :: Chromosome: X; NC_000023.10 (108616135..108725285, complement)

See GUCY2F in Epigenomics, MapViewer

Chromosome X - NC_000023.10 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?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P51841	Q9UMX6	GUCA1B	HPRD	PubMed
P51841	P51841	GUCY2F	HPRD	PubMed
BioGRID:109241	BioGRID:133456	GUCY2E	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109241	BioGRID:109241	GUCY2F	BioGRID	PubMed	Affinity Capture-Western

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 heterodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
protein kinase activity	IEA Inferred from Electronic Annotation more info
receptor activity	TAS Traceable Author Statement more info	PubMed
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
response to stimulus	IEA Inferred from Electronic Annotation more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
nuclear outer membrane	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: retinal guanylyl cyclase 2

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

NP_001513.2

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.

Genomic

NG_009175.1 RefSeqGene

Range

5001..114151

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001522.2 → NP_001513.2 retinal guanylyl cyclase 2

Status: REVIEWED

Source sequence(s)

AL031387, L37378

Consensus CDS

CCDS14545.1

UniProtKB/Swiss-Prot

P51841

Related

ENSP00000218006, OTTHUMP00000023839, ENST00000218006, OTTHUMT00000057884

Conserved Domains (6) summary

cd06371
Location:54 – 435
Blast Score: 1790

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

cd07302
Location:883 – 1060
Blast Score: 543

CHD; cyclase homology domain

smart00044
Location:850 – 1040
Blast Score: 733

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

pfam01094
Location:75 – 414
Blast Score: 563

ANF_receptor; Receptor family ligand binding region

pfam07701
Location:850 – 869
Blast Score: 89

HNOBA; Heme NO binding associated

cl09925
Location:585 – 810
Blast Score: 377

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_000023.10 Reference GRCh37.p5 Primary Assembly

Range

108616135..108725285, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

98238823..98346954, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL031387.4	CAB41303.1
genomic	CH471120.2	EAX02681.1
mRNA	BC144241.1	None
mRNA	L37378.1	AAA74451.1
other-genetic	BC156674.1	AAI56675.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P51841.2	GenPept	UniProtKB/Swiss-Prot:P51841

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Additional Links

Epigenomics
MIM 300041
GUCY2F @ LOVD GUCY2F
Retina International Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene gcmut.htm
UCSC UCSC
UniGene Hs.123074