GUCY2F Gene
protein-coding GIFtS: 59
GCID: GC0XM108616
|
|
guanylate cyclase 2F, retinal
| |
Aliases
for GUCY2F gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Guanylate Cyclase 2F, Retinal1 2 3 | | RETGC-22 3 | | GC-F1 2 3 | | EC 4.6.1.23 8 | | ROS-GC21 2 3 | | RetGC-21 | | GUC2F2 3 5 | | Guanylate Cyclase 2D-Like, Membrane (Retina-Specific)2 | | CYGF1 2 | | Retinal Guanylyl Cyclase 22 | | GUC2DL1 2 | | RETGC23 | | Guanylate Cyclase F2 3 | | EC 4.6.18 | | Rod Outer Segment Membrane Guanylate Cyclase 22 3 | | |
Export aliases for GUCY2F gene to outside databasesPrevious GC identifers: GC0XM103919 GC0XM105762 GC0XM106641 GC0XM107380 GC0XM108422 GC0XM098238 |
Summaries
for GUCY2F gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GUCY2F:
The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encodedprotein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transductioncascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in thisgene may be a cause of X-linked retinitis pigmentosa. (provided by RefSeq, Dec 2008)
UniProtKB/Swiss-Prot: GUC2F_HUMAN, P51841Function: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzymeinvolved in the resynthesis of cGMP required for recovery of the dark state after phototransduction
|
Genomic Views
for GUCY2F gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011651.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GUCY2F gene promoter:
Pax-6 Lmo2 Nkx2-5 POU6F1 (c2) STAT5A HNF-4alpha1 Evi-1 RORalpha1 AREB6
Other transcription factors
Search SABiosciences Chromatin IP Primers for GUCY2F
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GUCY2F |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq22 Ensembl cytogenetic band: Xq23 HGNC cytogenetic band: Xq22GUCY2F Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM108616: view genomic region
(about GC identifiers)
Start:
|
108,616,135 bp from pter |
End:
|
108,725,301 bp from pter |
Size:
|
109,167 bases |
Orientation:
|
minus strand |
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Proteins
for GUCY2F gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GUC2F_HUMAN, P51841 (See
protein sequence)Recommended Name: Retinal guanylyl cyclase 2 precursor Size: 1108 amino acids; 124850 Da
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: Q9UJF1Explore the universe of human proteins at neXtProt for GUCY2F: NX_P51841
Post-translational modifications:
There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may beinvolved in intra- or interchain disulfide bonds1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51841
4/28 DME Specific Peptides for GUCY2F (P51841) (see all 28)
GUCY2F Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001513.2
ENSEMBL proteins: ENSP00000218006
Human Recombinant Protein Products for GUCY2F:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
GUCY2F for ontologies About GeneDecksing
GUCY2F Antibody Products:
Assay Products for GUCY2F: |
Protein
Domains /
Families
for GUCY2F gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GUCY2F for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P51841ProtoNet protein and cluster: P51841 1 Blocks protein family: IPB001828 Extracellular ligand-binding receptor
UniProtKB/Swiss-Prot: GUC2F_HUMAN, P51841Domain: The protein kinase domain is predicted to be catalytically inactiveSimilarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase familySimilarity: Contains 1 guanylate cyclase domainSimilarity: Contains 1 protein kinase domain |
Function
for GUCY2F gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: GUC2F_HUMAN, P51841Function: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzymeinvolved in the resynthesis of cGMP required for recovery of the dark state after phototransductionCatalytic activity: GTP = 3',5'-cyclic GMP + diphosphateEnzyme regulation: Activated by GCAP-1; inhibited by calcium Genatlas biochemistry entry for GUCY2F:guanylate cyclase 2F,membrane form expressed in the retina,homolog to murine Gucyf
Enzyme Numbers (IUBMB): EC 4.6.1.21 2 EC 4.6.12
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
GUCY2F for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for GUCY2F:
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Gucy2f):
GUCY2F for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Gucy2ftm1Wbae for GUCY2F
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2F
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2F |
|
Pathways & Interactions
for GUCY2F gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Visual signal transduction- Rods | | | 2 | G-Beta Gamma Signaling | | | 3 | Sweet Taste Signaling | | | 4 | Visual Cycle in Retinal Rods | | | 5 | Signaling in Gap Junctions | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GUCY2F (see all 9)
2  BioSystems Pathways for GUCY2F
2 
Kegg Pathways (Kegg details for GUCY2F):
GUCY2F for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GUCY2F
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/75 Interacting proteins for GUCY2F (P518412, 3 ENSP000002180064) via UniProtKB, MINT, STRING, and/or I2D (see all 75)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
GUCY2F for ontologies About GeneDecksing
|
Drugs & Compounds
for GUCY2F gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GUCY2F for compounds About GeneDecksing
 Browse Tocris compounds for GUCY2F
5 HMDB Compounds for GUCY2F About this table
3 Novoseek chemical compound relationships for GUCY2F gene About this table
Search CenterWatch for drugs/clinical trials and news about GUCY2F / GUC2F
|
Transcripts
for GUCY2F gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GUCY2F gene: NM_001522.2 Unigene Cluster for GUCY2F: Guanylate cyclase 2F, retinal Hs.123074 [show with all ESTs]Unigene Representative Sequence: L373781 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000218006(uc011msq.2 uc022cch.1 uc004eod.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2F (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2F
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GUCY2F (NM_001522) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GUCY2F | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUCY2F |
Additional cDNA sequence: BC144241.1 L37378.1 1 DOTS entry: DT.104356 5 AceView cDNA sequences: L37378 NM_001522 BV194121 BV198908 BX954134
GeneLoc Exon Structure
|
Expression
for GUCY2F gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GUCY2F expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See GUCY2F Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GUCY2F
SOURCE GeneReport for Unigene cluster: Hs.123074
UniProtKB/Swiss-Prot: GUC2F_HUMAN, P51841Tissue specificity: Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and conephotoreceptor cells
SABiosciences Custom PCR Arrays for GUCY2F
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GUCY2F
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GUCY2F | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GUCY2F | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GUCY2F | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2F |
Orthologs
for GUCY2F gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for GUCY2F gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
GUCY2F1 |
guanylate cyclase 2F, retinal |
63.41(n)
62.37(a) |
|
419089 XM_417281.2 XP_417281.2 |
lizard
(Anolis carolinensis) |
Reptilia |
GUCY2F6 |
-- |
58(a) |
1 ↔ 1 |
GL343493.1(343439-408757) |
zebrafish
(Danio rerio) |
Actinopterygii |
gucy2f2 |
guanylate cyclase 2F, retinal |
75.88(n) |
|
140424 AY050503.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG97833 |
receptor guanylate cyclase |
56(a)
(best of 4) |
|
82C1 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
gcy-223 |
Natriuretic peptides receptors, guanylate
cyclase |
43(a)
(best of 20) |
|
V(20812562-20817185) -- |
ENSEMBL Gene Tree for GUCY2F (if available)
TreeFam Gene Tree for GUCY2F (if available) |
Paralogs
for GUCY2F gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GUCY2F gene
- ADCY52 ADCY22 GUCY2D2 GUCY2C2 NPR12 ADCY82 GUCY1A22 ADCY72
- ADCY92 GUCY1B32 ADCY62 ADCY12 GUCY1A32 ADCY42 NPR22 ADCY32
3 SIMAP similar genes for GUCY2F using alignment to 1 protein entry: GUC2F_HUMAN:GUCY2D NPR2 NPR1
GUCY2F for paralogs About GeneDecksing
|
Genomic Variants
for GUCY2F gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GUCY2F (108616135 - 108725301 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GUCY2F: --
Locus Specific Mutation Databases (LSDB): GUCY2F
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GUCY2F |
|
Disorders
/ Diseases
for GUCY2F gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GUCY2F for disorders About GeneDecksing
OMIM gene information: 300041
OMIM disorders: --
10  diseases for GUCY2F: About MalaCardsretinitis retinitis pigmentosa leber congenital amaurosis retinal disease
pancreatic cancer pancreatitis tuberculosis malaria
neuronitis mycobacterium tuberculosis
1 disease from the University of Copenhagen DISEASES database for GUCY2F:Leber congenital amaurosis Human Genome Epidemiology (HuGE) Navigator: GUCY2F (1 document)
Export disorders for GUCY2F gene to outside databases
|
Publications
for GUCY2F gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GUCY2F gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with GUCY2F) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. (PubMed id 7777544)1, 2, 3, 9 Lowe D.G....Hurley J.B. (1995)
- Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. (PubMed id 8838319)1, 3, 9 Yang R.B....Garbers D.L. (1996)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. (PubMed id 9698373)1, 9 Laura R.P. and Hurley J.B. (1998)
- Genetic mutations associated with cigarette smoking in pancreatic cancer. (PubMed id 19351817)1 Blackford A....Hruban R.H. (2009)
- Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (2007)
- Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments. (PubMed id 17868328)1 Helten A....Koch K.W. (2007)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. (PubMed id 16941478)1 Wood L.D....Velculescu V.E. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for GUCY2F gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GUCY2F gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GUCY2F gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GUCY2F gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GUCY2F | Pharmacogenomics, SNPs, Pathways | | Mutations of the GUCY2F gene | http://www.retina-international.org/files/sci-news/gcmut.htm |
|
| | |
About This Section
| Patent Information for GUCY2F gene:
Search GeneIP for patents involving GUCY2F
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GUCY2F gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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