This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other m... See more...

Aliases for GUCY2D Gene

Aliases for GUCY2D Gene

  • Guanylate Cyclase 2D, Retinal 2 3 4 5
  • Rod Outer Segment Membrane Guanylate Cyclase 2 3 4
  • Guanylate Cyclase 2D, Membrane (Retina-Specific) 2 3
  • Retinal Guanylate Cyclase 1 2 3
  • Retinal Guanylyl Cyclase 1 3 4
  • Cone Rod Dystrophy 6 2 3
  • EC 4.6.1.2 4 54
  • RETGC-1 3 4
  • GUC1A4 3 4
  • ROS-GC 3 4
  • CORD6 3 4
  • GUC2D 3 4
  • EC 4.6.1 54
  • ROS-GC1 3
  • RETGC1 4
  • CACD1 3
  • CORD5 3
  • ROSGC 3
  • RetGC 3
  • RETGC 4
  • CYGD 3
  • LCA1 3
  • RCD2 3
  • LCA 3

External Ids for GUCY2D Gene

Previous HGNC Symbols for GUCY2D Gene

  • CORD6
  • LCA
  • GUC2D
  • GUC1A4

Previous GeneCards Identifiers for GUCY2D Gene

  • GC17P008372
  • GC17P008777
  • GC17P007848
  • GC17P008106
  • GC17P007846
  • GC17P007905

Summaries for GUCY2D Gene

Entrez Gene Summary for GUCY2D Gene

  • This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]

GeneCards Summary for GUCY2D Gene

GUCY2D (Guanylate Cyclase 2D, Retinal) is a Protein Coding gene. Diseases associated with GUCY2D include Choroidal Dystrophy, Central Areolar, 1 and Cone-Rod Dystrophy 6. Among its related pathways are Metabolism of fat-soluble vitamins and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is GUCY2F.

UniProtKB/Swiss-Prot Summary for GUCY2D Gene

  • Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.

Additional gene information for GUCY2D Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GUCY2D Gene

Genomics for GUCY2D Gene

GeneHancer (GH) Regulatory Elements for GUCY2D Gene

Promoters and enhancers for GUCY2D 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
GH17J008002 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.6 +0.1 107 1.4 IKZF1 CEBPA IKZF2 LARP7 EZH2 DPF2 HNF4A HNF4G GUCY2D KCNAB3 RNF227 lnc-ALOX12B-3 ENSG00000279174
GH17J007880 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -117.2 -117154 9.6 SIN3A CTCF ZBTB6 RBPJ POLR2A TCF7L2 NR2F1 NR2F6 ZNF217 MIXL1 NAA38 CHD3 lnc-NAA38-2 KDM6B SCARNA21 CYB5D1 WRAP53 CTC1 CNTROB ENSG00000262089
GH17J007929 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 -70.6 -70593 5.6 ZNF785 SIN3A SP1 ZBTB40 SREBF1 ZBTB6 RBPJ POLR2A ATF1 CREB1 CNTROB KCNAB3 ENSG00000262730 TRAPPC1 piR-45406 DVL2 PFAS SENP3 CTC1 NEURL4
GH17J007914 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 11.3 -86.7 -86653 2.9 ZBTB6 USF2 NFYC L3MBTL2 MAX POLR2A NFIB MNT ZBTB33 NKRF RNF227 lnc-RNF227-1 piR-59873 POLR2A CNTROB WRAP53 DVL2 ENSG00000265749 CTC1 PFAS
GH17J008055 Promoter/Enhancer 1.3 Ensembl ENCODE 11.6 +54.4 54350 2.6 SIN3A ZNF24 CTCF SREBF1 MLX RBPJ TCF7L2 NR2F6 ATF1 CREB1 ENSG00000263427 RF00017-2267 lnc-ALOX15B-3 CNTROB ENSG00000214999 NAA38 GPS2 GUCY2D ALOX12B TRAPPC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCY2D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUCY2D gene promoter:
  • AML1a
  • Lmo2
  • Olf-1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for GUCY2D Gene

Genomic Locations for GUCY2D Gene
chr17:8,002,594-8,020,340
(GRCh38/hg38)
Size:
17,747 bases
Orientation:
Plus strand
chr17:7,905,912-7,923,658
(GRCh37/hg19)
Size:
17,747 bases
Orientation:
Plus strand

Genomic View for GUCY2D Gene

Genes around GUCY2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCY2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY2D Gene

Proteins for GUCY2D Gene

  • Protein details for GUCY2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02846-GUC2D_HUMAN
    Recommended name:
    Retinal guanylyl cyclase 1
    Protein Accession:
    Q02846
    Secondary Accessions:
    • Q6LEA7

    Protein attributes for GUCY2D Gene

    Size:
    1103 amino acids
    Molecular mass:
    120059 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GUCY2D Gene

neXtProt entry for GUCY2D Gene

Selected DME Specific Peptides for GUCY2D Gene

Q02846:
  • ELRHENVALYLGLFLA
  • TDHGHGRLLEAQ
  • LDILSAVG
  • DSMLRMLE
  • SPPPLCRP
  • LLTQMLP
  • RGRTELKGKG
  • RVSGLVGPVNPA
  • MESTGLPYRIHV
  • TAPQDLWVEAG
  • ERTEELE
  • YKVETIGDAY
  • LMKQCWAE
  • LAVVSEHC
  • AIRPATK
  • RIGLHSG
  • TPGSLGAVSSAL
  • MRHMPEVPVRIRIGLH
  • SEPIEVV
  • KLDWMFKSSLLLDLIKG
  • IIMQEVVCRS
  • LLNDLYT
  • RYLHHRGVAHGRLKSRNC
  • FSDIVGFT
  • ASRMEST
  • PRYCLFGDTVNTASRMES
  • RHAAEIANM
  • QVSPLFGTIY
  • MPRYCLFG
  • PYAMLELTPEEV

Post-translational modifications for GUCY2D Gene

  • Glycosylation at Asn297
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2D Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GUCY2D Gene

Gene Families for GUCY2D Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for GUCY2D Gene

GenScript: Design optimal peptide antigens:
  • Rod outer segment membrane guanylate cyclase (GUC2D_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02846

UniProtKB/Swiss-Prot:

GUC2D_HUMAN :
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY2D: view

Function for GUCY2D Gene

Molecular function for GUCY2D Gene

UniProtKB/Swiss-Prot Function:
Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.
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;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by GCAP-1; inhibited by calcium.
GENATLAS Biochemistry:
guanylate cyclase 2D,photoreceptor specific,likely homologous to murine Gucy2d,expressed in the retina,in the rod outer segment,activated at nanomolar concentrations of Ca2 by Ca2+ binding proteins and involved in phosphotransduction,stimulated at micromolar concentrations of Ca2+ by S100 beta and involved in retinal synaptic activity

Enzyme Numbers (IUBMB) for GUCY2D Gene

Phenotypes From GWAS Catalog for GUCY2D Gene

Gene Ontology (GO) - Molecular Function for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001653 peptide receptor activity IBA 21873635
GO:0004383 guanylate cyclase activity IBA,TAS 21873635
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 21078983
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GUCY2D: view
genes like me logo Genes that share phenotypes with GUCY2D: view

Human Phenotype Ontology for GUCY2D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCY2D Gene

MGI Knock Outs for GUCY2D:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCY2D

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GUCY2D Gene

Localization for GUCY2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY2D Gene

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 GUCY2D gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 1
cytosol 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane TAS 7777544
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane TAS 1356371
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GUCY2D: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GUCY2D Gene

Pathways & Interactions for GUCY2D Gene

PathCards logo

SuperPathways for GUCY2D Gene

genes like me logo Genes that share pathways with GUCY2D: view

Pathways by source for GUCY2D Gene

9 Qiagen pathways for GUCY2D Gene
  • Cellular Effects of Sildenafil
  • CRHR Pathway
  • eNOS Signaling
  • Intracellular Calcium Signaling
  • Relaxin Pathway

Gene Ontology (GO) - Biological Process for GUCY2D 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 TAS,IBA 21873635
GO:0007601 visual perception IEA,TAS --
genes like me logo Genes that share ontologies with GUCY2D: view

No data available for SIGNOR curated interactions for GUCY2D Gene

Drugs & Compounds for GUCY2D Gene

(10) Drugs for GUCY2D Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
Phosphoric acid Approved Pharma 0
Cyclic GMP Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for GUCY2D 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 GUCY2D: view

Transcripts for GUCY2D Gene

mRNA/cDNA for GUCY2D Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(2) 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 GUCY2D

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY2D Gene

No ASD Table

Relevant External Links for GUCY2D Gene

GeneLoc Exon Structure for
GUCY2D
ECgene alternative splicing isoforms for
GUCY2D

Expression for GUCY2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GUCY2D Gene

mRNA differential expression in normal tissues according to GTEx for GUCY2D Gene

This gene is overexpressed in Testis (x15.5).

Protein differential expression in normal tissues from HIPED for GUCY2D Gene

This gene is overexpressed in Retina (39.6) and Bone (29.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GUCY2D Gene



Protein tissue co-expression partners for GUCY2D Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCY2D Gene:

GUCY2D

SOURCE GeneReport for Unigene cluster for GUCY2D Gene:

Hs.592109

mRNA Expression by UniProt/SwissProt for GUCY2D Gene:

Q02846-GUC2D_HUMAN
Tissue specificity: Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.

Evidence on tissue expression from TISSUES for GUCY2D Gene

  • Eye(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCY2D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • olfactory bulb
  • pituitary gland
  • skull
Thorax:
  • breast
Abdomen:
  • liver
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with GUCY2D: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GUCY2D Gene

Orthologs for GUCY2D Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUCY2D 33 32
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY2D 33 32
  • 86.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUCY2D 33 32
  • 86.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gucy2e 17 33 32
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Gucy2e 32
  • 82.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2D 33
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUCY2D 33
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY2D 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2d 32
  • 60.78 (n)
zebrafish
(Danio rerio)
Actinopterygii gc3 33 32
  • 58.3 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9783 34
  • 53 (a)
CG5719 34
  • 50 (a)
CG34357 33
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-21 34
  • 43 (a)
gcy-15 34
  • 42 (a)
gcy-31 34
  • 41 (a)
gcy-22 33 34
  • 30 (a)
ManyToMany
gcy-13 33 34
  • 29 (a)
ManyToMany
gcy-7 33
  • 27 (a)
ManyToMany
gcy-6 33
  • 26 (a)
ManyToMany
gcy-1 33
  • 26 (a)
ManyToMany
gcy-27 33 34
  • 25 (a)
ManyToMany
gcy-23 33 34
  • 25 (a)
ManyToMany
gcy-20 33 34
  • 25 (a)
ManyToMany
gcy-3 33 34
  • 25 (a)
ManyToMany
gcy-2 33 34
  • 25 (a)
ManyToMany
gcy-19 33 34
  • 24 (a)
ManyToMany
gcy-9 33
  • 24 (a)
ManyToMany
gcy-4 33 34
  • 24 (a)
ManyToMany
gcy-14 33 34
  • 24 (a)
ManyToMany
gcy-25 33
  • 23 (a)
ManyToMany
gcy-8 33 34
  • 23 (a)
ManyToMany
gcy-11 33 34
  • 23 (a)
ManyToMany
gcy-17 33
  • 23 (a)
ManyToMany
gcy-18 33
  • 23 (a)
ManyToMany
odr-1 33 34
  • 21 (a)
ManyToMany
daf-11 33 34
  • 19 (a)
ManyToMany
Species where no ortholog for GUCY2D 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)
  • chicken (Gallus gallus)
  • 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 GUCY2D Gene

ENSEMBL:
Gene Tree for GUCY2D (if available)
TreeFam:
Gene Tree for GUCY2D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUCY2D: view image

Paralogs for GUCY2D Gene

(3) SIMAP similar genes for GUCY2D Gene using alignment to 1 proteins:

  • GUC2D_HUMAN

Pseudogenes.org Pseudogenes for GUCY2D Gene

genes like me logo Genes that share paralogs with GUCY2D: view

Variants for GUCY2D Gene

Sequence variations from dbSNP and Humsavar for GUCY2D Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1006935198 pathogenic, Cone-rod dystrophy 6, Leber congenital amaurosis 1, Choroidal sclerosis 8,015,048(+) C/G coding_sequence_variant, stop_gained
rs1029006549 uncertain-significance, Cone-rod dystrophy 6 8,006,675(+) C/T coding_sequence_variant, missense_variant
rs112372281 benign, not specified, Cone-rod dystrophy 6, Leber congenital amaurosis 1 8,014,859(+) G/A/T coding_sequence_variant, synonymous_variant
rs1348467293 pathogenic, Inborn genetic diseases 8,007,529(+) G/A splice_donor_variant
rs140638938 uncertain-significance, Abnormal electroretinogram, Nystagmus, not provided 8,006,651(+) G/A/C coding_sequence_variant, missense_variant

Variation tolerance for GUCY2D Gene

Residual Variation Intolerance Score: 5.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.06; 93.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUCY2D Gene

Human Gene Mutation Database (HGMD)
GUCY2D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCY2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GUCY2D Gene

Disorders for GUCY2D Gene

MalaCards: The human disease database

(27) MalaCards diseases for GUCY2D Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GUC2D_HUMAN
  • Leber congenital amaurosis 1 (LCA1) [MIM:204000]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:11035546, ECO:0000269 PubMed:12365911, ECO:0000269 PubMed:15123990, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:21602930, ECO:0000269 PubMed:8944027, ECO:0000269 PubMed:9888789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 6 (CORD6) [MIM:601777]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:12552567, ECO:0000269 PubMed:15111605, ECO:0000269 PubMed:18332321, ECO:0000269 PubMed:18487367, ECO:0000269 PubMed:20517349, ECO:0000269 PubMed:21552474, ECO:0000269 PubMed:22194653, ECO:0000269 PubMed:23734073, ECO:0000269 PubMed:24480840, ECO:0000269 PubMed:9618177, ECO:0000269 PubMed:9683616}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Choroidal dystrophy, central areolar, 1 (CACD1) [MIM:215500]: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. {ECO:0000269 PubMed:22695961}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUCY2D

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 GUCY2D: view

No data available for Genatlas for GUCY2D Gene

Publications for GUCY2D Gene

  1. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F … Banfi S (Investigative ophthalmology & visual science 2007) 3 4 23 43 56
  2. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. (PMID: 12552567) Udar N … Small KW (Human mutation 2003) 2 3 4 23 56
  3. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PMID: 1356371) Shyjan AW … Lowe DG (Neuron 1992) 2 3 4 23 56
  4. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 23 43 56
  5. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. (PMID: 18332321) Small KW … Heckenlively JR (Archives of ophthalmology (Chicago, Ill. : 1960) 2008) 3 4 23 56

Products for GUCY2D Gene

Sources for GUCY2D Gene