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-link... See more...

Aliases for GUCY2F Gene

Aliases for GUCY2F Gene

  • Guanylate Cyclase 2F, Retinal 2 3 4 5
  • Guanylate Cyclase 2D-Like, Membrane (Retina-Specific) 2 3
  • Rod Outer Segment Membrane Guanylate Cyclase 2 3 4
  • Retinal Guanylyl Cyclase 2 3 4
  • Guanylate Cyclase F 3 4
  • EC 4.6.1.2 4 52
  • RETGC-2 3 4
  • ROS-GC2 3 4
  • GUC2F 3 4
  • GC-F 3 4
  • EC 4.6.1 52
  • GUC2DL 3
  • RETGC2 4
  • CYGF 3

External Ids for GUCY2F Gene

Previous GeneCards Identifiers for GUCY2F Gene

  • GC0XM103919
  • GC0XM105762
  • GC0XM106641
  • GC0XM107380
  • GC0XM108422
  • GC0XM108616
  • GC0XM098238

Summaries for GUCY2F Gene

Entrez Gene Summary for GUCY2F Gene

  • 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]

GeneCards Summary for GUCY2F Gene

GUCY2F (Guanylate Cyclase 2F, Retinal) is a Protein Coding gene. Diseases associated with GUCY2F include Leber Congenital Amaurosis 1 and Mental Retardation, X-Linked, Syndromic, Martin-Probst Type. Among its related pathways are Sweet Taste Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is GUCY2D.

UniProtKB/Swiss-Prot Summary for GUCY2F Gene

  • Responsible for the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors (PubMed:7777544). Plays an essential role in phototransduction, by mediating cGMP replenishment (By similarity). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).

Additional gene information for GUCY2F Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GUCY2F Gene

Genomics for GUCY2F Gene

GeneHancer (GH) Regulatory Elements for GUCY2F Gene

Promoters and enhancers for GUCY2F Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ109632 Enhancer 0.5 Ensembl 12.1 -150.7 -150651 1.1 CTCF RAD21 SMC3 ZNF654 ZNF2 TRIM22 GUCY2F ENSG00000237319 lnc-NXT2-1 lnc-NXT2-2 lnc-ACSL4-1 ACSL4
GH0XJ109485 Enhancer 0.7 Ensembl 0.7 -3.9 -3856 0.5 CTCF REST CUX1 MYC RAD21 TRIM22 SMC3 MXI1 JUND ZNF654 GUCY2F NXT2
GH0XJ109475 Enhancer 0.6 ENCODE 0.4 +6.8 6789 0.1 CTCF TRIM28 SMC3 MXI1 E2F6 RAD21 TFAP4 L3MBTL2 GATA3 MAX KCNE5 GUCY2F ENSG00000215000
GH0XJ109472 Enhancer 0.5 ENCODE 0.4 +9.0 9011 1.4 CTCF RAD21 FOS ZNF654 JUND ZFP69B SOX5 SP1 SOX13 NXT2 GUCY2F ENSG00000215000
GH0XJ109487 Enhancer 0.5 Ensembl 0.4 -6.2 -6215 2.2 TCF12 SPI1 IKZF1 FOXA2 CTCF FOXA1 IKZF2 KCNE5 ACSL4 GUCY2F NXT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCY2F on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GUCY2F

Top Transcription factor binding sites by QIAGEN in the GUCY2F gene promoter:
  • AREB6
  • Evi-1
  • HNF-4alpha1
  • Lmo2
  • Nkx2-5
  • Pax-6
  • POU6F1 (c2)
  • RORalpha1
  • STAT5A

Genomic Locations for GUCY2F Gene

Genomic Locations for GUCY2F Gene
chrX:109,372,017-109,482,086
(GRCh38/hg38)
Size:
110,070 bases
Orientation:
Minus strand
chrX:108,616,135-108,725,301
(GRCh37/hg19)
Size:
109,167 bases
Orientation:
Minus strand

Genomic View for GUCY2F Gene

Genes around GUCY2F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY2F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCY2F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY2F Gene

Proteins for GUCY2F Gene

  • Protein details for GUCY2F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51841-GUC2F_HUMAN
    Recommended name:
    Retinal guanylyl cyclase 2
    Protein Accession:
    P51841
    Secondary Accessions:
    • Q9UJF1

    Protein attributes for GUCY2F Gene

    Size:
    1108 amino acids
    Molecular mass:
    124850 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with RD3; promotes the exit of GUCY2F from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (By similarity).

neXtProt entry for GUCY2F Gene

Selected DME Specific Peptides for GUCY2F Gene

P51841:
  • DSMLRMLE
  • LLTQMLP
  • NGNGISEYVILDTN
  • RGRTELKGKG
  • MESTGLPYRIHV
  • HGRLKSRNCVVDGRFVLKVTD
  • ERTEELE
  • MTDGTYVFVPYD
  • YKVETIGDAY
  • LMKQCWAE
  • RIGLHSG
  • MRHMPEVPVRIRIGLH
  • TVEPEGFD
  • PTFSRTLPSPIRVL
  • SEPIEVV
  • KLDWMFKSSLLLDLIKG
  • LLNDLYT
  • ELEIEKQKT
  • LTLEDVTF
  • FSDIVGFT
  • ASRMEST
  • GPVVAGVVG
  • CEAASLLG
  • PRYCLFGDTVNTASRMES
  • RHAAEIANM
  • QVSPLFGTIY
  • MPRYCLFG
  • KPLPVPPPV

Post-translational modifications for GUCY2F Gene

  • There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GUCY2F Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GUCY2F Gene

Gene Families for GUCY2F Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GUCY2F Gene

Suggested Antigen Peptide Sequences for GUCY2F Gene

GenScript: Design optimal peptide antigens:
  • Rod outer segment membrane guanylate cyclase 2 (GUC2F_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51841

UniProtKB/Swiss-Prot:

GUC2F_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY2F: view

Function for GUCY2F Gene

Molecular function for GUCY2F Gene

UniProtKB/Swiss-Prot Function:
Responsible for the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors (PubMed:7777544). Plays an essential role in phototransduction, by mediating cGMP replenishment (By similarity). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by GUCA1B when free calcium ions concentration is low, and inhibited by GUCA1B when free calcium ions concentration is high (PubMed:15772651). Inhibited by RD3 (PubMed:29515371).
GENATLAS Biochemistry:
guanylate cyclase 2F,membrane form expressed in the retina,homolog to murine Gucyf

Enzyme Numbers (IUBMB) for GUCY2F Gene

Gene Ontology (GO) - Molecular Function for GUCY2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001653 peptide receptor activity IBA 21873635
GO:0004383 guanylate cyclase activity TAS,IBA 21873635
GO:0004672 protein kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GUCY2F: view
genes like me logo Genes that share phenotypes with GUCY2F: view

Animal Models for GUCY2F Gene

MGI Knock Outs for GUCY2F:

Animal Model Products

  • Taconic Biosciences Mouse Models for GUCY2F

CRISPR Products

miRNA for GUCY2F Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCY2F

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GUCY2F Gene

Localization for GUCY2F Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY2F Gene

Photoreceptor outer segment membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUCY2F gene
Compartment Confidence
plasma membrane 4
nucleus 4
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GUCY2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane TAS 7777544
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0005887 integral component of plasma membrane TAS 7777544
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GUCY2F: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GUCY2F Gene

Pathways & Interactions for GUCY2F Gene

PathCards logo

SuperPathways for GUCY2F Gene

genes like me logo Genes that share pathways with GUCY2F: view

Pathways by source for GUCY2F Gene

3 KEGG pathways for GUCY2F Gene
9 Qiagen pathways for GUCY2F Gene
  • Cellular Effects of Sildenafil
  • CRHR Pathway
  • eNOS Signaling
  • Intracellular Calcium Signaling
  • Relaxin Pathway

Gene Ontology (GO) - Biological Process for GUCY2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IBA 21873635
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007168 receptor guanylyl cyclase signaling pathway IBA,TAS 21873635
GO:0007601 visual perception TAS 7777544
genes like me logo Genes that share ontologies with GUCY2F: view

No data available for SIGNOR curated interactions for GUCY2F Gene

Drugs & Compounds for GUCY2F Gene

(5) Drugs for GUCY2F Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Phosphoric acid Approved Pharma 0
Cyclic GMP Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for GUCY2F Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GUCY2F: view

Transcripts for GUCY2F Gene

mRNA/cDNA for GUCY2F Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCY2F

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY2F Gene

No ASD Table

Relevant External Links for GUCY2F Gene

GeneLoc Exon Structure for
GUCY2F

Expression for GUCY2F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GUCY2F Gene

mRNA differential expression in normal tissues according to GTEx for GUCY2F Gene

This gene is overexpressed in Testis (x13.6) and Cervix - Endocervix (x5.9).

Protein differential expression in normal tissues from HIPED for GUCY2F Gene

This gene is overexpressed in Cervix (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GUCY2F Gene



Protein tissue co-expression partners for GUCY2F Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GUCY2F

SOURCE GeneReport for Unigene cluster for GUCY2F Gene:

Hs.123074

mRNA Expression by UniProt/SwissProt for GUCY2F Gene:

P51841-GUC2F_HUMAN
Tissue specificity: Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells.

Evidence on tissue expression from TISSUES for GUCY2F Gene

  • Eye(4.5)
genes like me logo Genes that share expression patterns with GUCY2F: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCY2F Gene

Orthologs for GUCY2F Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY2F Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUCY2F 31 30
  • 97.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUCY2F 31 30
  • 91.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY2F 31 30
  • 91.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gucy2f 17 31 30
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Gucy2f 30
  • 88.63 (n)
oppossum
(Monodelphis domestica)
Mammalia GUCY2F 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2F 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCY2F 31 30
  • 63.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY2F 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2f 30
  • 70.18 (n)
zebrafish
(Danio rerio)
Actinopterygii gc2 31 30
  • 63.37 (n)
OneToOne
gucy2f 30
fruit fly
(Drosophila melanogaster)
Insecta CG9783 32
  • 56 (a)
CG5719 32
  • 52 (a)
Gyc32E 32
  • 33 (a)
Gyc76C 32
  • 33 (a)
CG34357 31
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-6 32
  • 43 (a)
gcy-21 32
  • 43 (a)
gcy-22 32
  • 43 (a)
gcy-19 32
  • 42 (a)
gcy-14 32
  • 42 (a)
gcy-2 32
  • 42 (a)
gcy-31 32
  • 42 (a)
gcy-13 32
  • 41 (a)
gcy-4 32
  • 39 (a)
gcy-20 32
  • 39 (a)
gcy-11 32
  • 39 (a)
gcy-23 32
  • 38 (a)
gcy-8 32
  • 38 (a)
gcy-3 32
  • 37 (a)
odr-1 32
  • 33 (a)
gcy-12 32
  • 31 (a)
gcy-27 32
  • 31 (a)
daf-11 32
  • 30 (a)
gcy-5 32
  • 30 (a)
gcy-15 31 32
  • 27 (a)
ManyToMany
Species where no ortholog for GUCY2F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUCY2F Gene

ENSEMBL:
Gene Tree for GUCY2F (if available)
TreeFam:
Gene Tree for GUCY2F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUCY2F: view image

Paralogs for GUCY2F Gene

(3) SIMAP similar genes for GUCY2F Gene using alignment to 1 proteins:

  • GUC2F_HUMAN
genes like me logo Genes that share paralogs with GUCY2F: view

Variants for GUCY2F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GUCY2F Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
718704 Benign: not provided 109,475,717(-) C/G MISSENSE_VARIANT
729479 Benign: not provided 109,465,244(-) T/C SYNONYMOUS_VARIANT
744970 Likely Benign: not provided 109,441,402(-) T/C SYNONYMOUS_VARIANT
771548 Benign: not provided 109,475,249(-) G/A MISSENSE_VARIANT
777820 Benign: not provided 109,465,251(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GUCY2F Gene

Variation tolerance for GUCY2F Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.19; 87.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUCY2F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCY2F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GUCY2F Gene

Disorders for GUCY2F Gene

MalaCards: The human disease database

(10) MalaCards diseases for GUCY2F Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 1
  • lca1
mental retardation, x-linked, syndromic, martin-probst type
  • mrxsmp
acromesomelic dysplasia
  • acromesomelic dwarfism
cone-rod dystrophy 6
  • retinitis pigmentosa 6
retinal disease
  • retinal disorders
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GUCY2F

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GUCY2F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GUCY2F Gene

Publications for GUCY2F Gene

  1. Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. (PMID: 7777544) Lowe DG … Hurley JB (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 23 54
  2. Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. (PMID: 8838319) Yang RB … Garbers DL (Genomics 1996) 2 3 23 54
  3. Genetic mutations associated with cigarette smoking in pancreatic cancer. (PMID: 19351817) Blackford A … Hruban RH (Cancer research 2009) 3 41 54
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  5. The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. (PMID: 9698373) Laura RP … Hurley JB (Biochemistry 1998) 3 23 54

Products for GUCY2F Gene

Sources for GUCY2F Gene