Details for: GUCY2D

Gene ID: 3000

Symbol: GUCY2D

Ensembl ID: ENSG00000132518

Description: guanylate cyclase 2D, retinal

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 18.5155
    Cell Significance Index: -2.8800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 10.9997
    Cell Significance Index: -2.7900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.8996
    Cell Significance Index: 40.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.7645
    Cell Significance Index: 174.2400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.0804
    Cell Significance Index: 24.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.4571
    Cell Significance Index: 16.7800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2109
    Cell Significance Index: 2.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1791
    Cell Significance Index: 2.5700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1781
    Cell Significance Index: 2.4300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.1774
    Cell Significance Index: 5.2300
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.1282
    Cell Significance Index: 1.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0614
    Cell Significance Index: 1.6400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0513
    Cell Significance Index: 2.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0476
    Cell Significance Index: 1.3300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0422
    Cell Significance Index: 6.1300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0420
    Cell Significance Index: 1.9600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0327
    Cell Significance Index: 22.6200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0310
    Cell Significance Index: 6.1600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0309
    Cell Significance Index: 0.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0210
    Cell Significance Index: 1.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0203
    Cell Significance Index: 4.0700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0196
    Cell Significance Index: 0.3300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0144
    Cell Significance Index: 1.0200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0119
    Cell Significance Index: 0.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0091
    Cell Significance Index: 0.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0071
    Cell Significance Index: 0.9100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0068
    Cell Significance Index: 0.0500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0048
    Cell Significance Index: 2.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0043
    Cell Significance Index: 1.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0037
    Cell Significance Index: 2.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0022
    Cell Significance Index: 4.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0009
    Cell Significance Index: 0.7200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -0.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0018
    Cell Significance Index: -2.4300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0019
    Cell Significance Index: -0.0200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0021
    Cell Significance Index: -0.0900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0031
    Cell Significance Index: -0.3600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0032
    Cell Significance Index: -2.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0034
    Cell Significance Index: -2.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0038
    Cell Significance Index: -0.6500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0042
    Cell Significance Index: -3.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0046
    Cell Significance Index: -2.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0046
    Cell Significance Index: -0.2400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0048
    Cell Significance Index: -0.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0049
    Cell Significance Index: -1.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0059
    Cell Significance Index: -2.6600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0093
    Cell Significance Index: -1.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0130
    Cell Significance Index: -1.4900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0141
    Cell Significance Index: -1.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0141
    Cell Significance Index: -2.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0152
    Cell Significance Index: -1.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0162
    Cell Significance Index: -2.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0178
    Cell Significance Index: -2.3000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0242
    Cell Significance Index: -0.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0267
    Cell Significance Index: -2.7800
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: -0.0280
    Cell Significance Index: -0.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0291
    Cell Significance Index: -2.1700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0322
    Cell Significance Index: -0.2200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0331
    Cell Significance Index: -0.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0373
    Cell Significance Index: -0.9300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0377
    Cell Significance Index: -0.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0377
    Cell Significance Index: -2.8900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0385
    Cell Significance Index: -2.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0394
    Cell Significance Index: -2.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0403
    Cell Significance Index: -2.4800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0403
    Cell Significance Index: -1.2900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0409
    Cell Significance Index: -1.1000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0422
    Cell Significance Index: -1.4800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0433
    Cell Significance Index: -1.0500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0463
    Cell Significance Index: -2.9900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0474
    Cell Significance Index: -2.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0476
    Cell Significance Index: -1.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0494
    Cell Significance Index: -2.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0514
    Cell Significance Index: -0.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0564
    Cell Significance Index: -1.4500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0566
    Cell Significance Index: -2.5100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0601
    Cell Significance Index: -0.5700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0605
    Cell Significance Index: -1.5100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0645
    Cell Significance Index: -1.3700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0645
    Cell Significance Index: -0.9800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0692
    Cell Significance Index: -1.3900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0705
    Cell Significance Index: -1.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0710
    Cell Significance Index: -2.6900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0716
    Cell Significance Index: -0.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0740
    Cell Significance Index: -2.6000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0760
    Cell Significance Index: -0.9600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0766
    Cell Significance Index: -0.9900
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0773
    Cell Significance Index: -0.8200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0784
    Cell Significance Index: -2.7300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0785
    Cell Significance Index: -1.2600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0788
    Cell Significance Index: -1.6500
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0803
    Cell Significance Index: -0.8600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0819
    Cell Significance Index: -1.7100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0832
    Cell Significance Index: -1.3200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0860
    Cell Significance Index: -1.7000
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0870
    Cell Significance Index: -1.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0881
    Cell Significance Index: -1.3000
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0884
    Cell Significance Index: -1.1100
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0891
    Cell Significance Index: -1.0800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GUCY2D is a member of the guanylate cyclase family, a group of enzymes that catalyze the conversion of guanosine triphosphate (GTP) to cyclic guanosine monophosphate (cGMP). The retinal guanylyl cyclase 2D enzyme is specifically expressed in the photoreceptor cells of the retina, where it regulates the phototransduction cascade. This cascade involves the activation of rhodopsin, which triggers a series of downstream signaling events that ultimately lead to the generation of electrical signals in the retina. **Pathways and Functions:** GUCY2D is involved in several key signaling pathways, including: 1. **Phototransduction cascade:** GUCY2D regulates the activity of rhodopsin, which is essential for light perception. 2. **Regulation of rhodopsin-mediated signaling pathway:** GUCY2D modulates the activity of rhodopsin, ensuring that it responds appropriately to light stimuli. 3. **CgMP-mediated signaling:** GUCY2D generates cGMP, which acts as a second messenger to transmit signals within the photoreceptor cell. 4. **Receptor guanylyl cyclase signaling pathway:** GUCY2D is a receptor guanylyl cyclase, which means it can bind to specific ligands and generate cGMP in response. 5. **Gene regulation:** GUCY2D has been implicated in the regulation of gene expression, particularly in the context of visual perception. **Clinical Significance:** Dysregulation of GUCY2D has been implicated in various human diseases, including: 1. **Retinitis pigmentosa:** A group of inherited disorders that affect the photoreceptor cells of the retina, leading to progressive vision loss. 2. **Leber congenital amaurosis:** A rare inherited disorder characterized by severe vision loss or blindness from birth. 3. **Optic neuropathies:** A group of disorders that affect the optic nerve, leading to vision loss or blindness. 4. **Sensitivity to light:** Abnormalities in GUCY2D have been linked to sensitivity to light, which can cause discomfort or even pain. In conclusion, GUCY2D is a crucial gene involved in the phototransduction cascade and beyond. Its dysregulation can lead to various human diseases, highlighting the importance of this gene in maintaining normal visual perception and overall health. Further research is needed to fully understand the mechanisms underlying GUCY2D function and to develop effective therapeutic strategies for diseases associated with this gene.

Genular Protein ID: 911614344

Symbol: GUC2D_HUMAN

Name: Retinal guanylyl cyclase 1

UniProtKB Accession Codes:

Q02846 Q6LEA7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 3 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 Ensembl 1 GO 20 Gene3D 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 10 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1356371

Title: Molecular cloning of a retina-specific membrane guanylyl cyclase.

PubMed ID: 1356371

DOI: 10.1016/0896-6273(92)90035-c

PubMed ID: 7806240

Title: Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

PubMed ID: 7806240

DOI: 10.1006/geno.1994.1415

PubMed ID: 7912093

Title: The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator.

PubMed ID: 7912093

DOI: 10.1016/0896-6273(94)90449-9

PubMed ID: 9600905

Title: Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase.

PubMed ID: 9600905

DOI: 10.1073/pnas.95.11.5993

PubMed ID: 9391039

Title: Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis.

PubMed ID: 9391039

DOI: 10.1073/pnas.94.25.13414

PubMed ID: 8944027

Title: Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

PubMed ID: 8944027

DOI: 10.1038/ng1296-461

PubMed ID: 9683616

Title: A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

PubMed ID: 9683616

DOI: 10.1086/301985

PubMed ID: 9618177

Title: Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

PubMed ID: 9618177

DOI: 10.1093/hmg/7.7.1179

PubMed ID: 9888789

Title: Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

PubMed ID: 9888789

DOI: 10.1021/bi9824137

PubMed ID: 11035546

Title: Mutational analysis and clinical correlation in Leber congenital amaurosis.

PubMed ID: 11035546

DOI: 10.1076/1381-6810(200009)21:3;1-z;ft135

PubMed ID: 12365911

Title: Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PubMed ID: 12365911

DOI: 10.1001/archopht.120.10.1325

PubMed ID: 12552567

Title: Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

PubMed ID: 12552567

DOI: 10.1002/humu.9109

PubMed ID: 15111605

Title: Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.

PubMed ID: 15111605

DOI: 10.1167/iovs.03-0315

PubMed ID: 15123990

Title: Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

PubMed ID: 15123990

PubMed ID: 16123401

Title: Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

PubMed ID: 16123401

DOI: 10.1167/iovs.05-0111

PubMed ID: 17724218

Title: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PubMed ID: 17724218

DOI: 10.1167/iovs.07-0068

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 18332321

Title: New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

PubMed ID: 18332321

DOI: 10.1001/archopht.126.3.397

PubMed ID: 18487367

Title: Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

PubMed ID: 18487367

DOI: 10.1167/iovs.08-1901

PubMed ID: 20517349

Title: A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PubMed ID: 20517349

DOI: 10.1038/ejhg.2010.81

PubMed ID: 21078983

Title: RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.

PubMed ID: 21078983

DOI: 10.1073/pnas.1010460107

PubMed ID: 21928830

Title: Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.

PubMed ID: 21928830

DOI: 10.1021/bi201342b

PubMed ID: 22695961

Title: A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.

PubMed ID: 22695961

DOI: 10.1167/iovs.12-10061

PubMed ID: 26100624

Title: Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.

PubMed ID: 26100624

DOI: 10.1074/jbc.m115.661371

PubMed ID: 30319355

Title: Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.

PubMed ID: 30319355

DOI: 10.3389/fnmol.2018.00348

PubMed ID: 21552474

Title: Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

PubMed ID: 21552474

PubMed ID: 22194653

Title: A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

PubMed ID: 22194653

PubMed ID: 21602930

Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PubMed ID: 21602930

DOI: 10.1371/journal.pone.0019458

PubMed ID: 23734073

Title: A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

PubMed ID: 23734073

PubMed ID: 24480840

Title: A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

PubMed ID: 24480840

DOI: 10.1038/eye.2014.7

PubMed ID: 25515582

Title: Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

PubMed ID: 25515582

DOI: 10.1167/iovs.14-15647

PubMed ID: 27475985

Title: Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

PubMed ID: 27475985

DOI: 10.1186/s12881-016-0314-2

PubMed ID: 29559409

Title: Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

PubMed ID: 29559409

DOI: 10.1016/j.ajo.2018.03.021

Sequence Information:

  • Length: 1103
  • Mass: 120059
  • Checksum: 28631557E7CBDFA4
  • Sequence:
    • MTACARRAGG LPDPGLCGPA WWAPSLPRLP RALPRLPLLL LLLLLQPPAL SAVFTVGVLG 
PWACDPIFSR ARPDLAARLA AARLNRDPGL AGGPRFEVAL LPEPCRTPGS LGAVSSALAR 
VSGLVGPVNP AACRPAELLA EEAGIALVPW GCPWTQAEGT TAPAVTPAAD ALYALLRAFG 
WARVALVTAP QDLWVEAGRS LSTALRARGL PVASVTSMEP LDLSGAREAL RKVRDGPRVT 
AVIMVMHSVL LGGEEQRYLL EAAEELGLTD GSLVFLPFDT IHYALSPGPE ALAALANSSQ 
LRRAHDAVLT LTRHCPSEGS VLDSLRRAQE RRELPSDLNL QQVSPLFGTI YDAVFLLARG 
VAEARAAAGG RWVSGAAVAR HIRDAQVPGF CGDLGGDEEP PFVLLDTDAA GDRLFATYML 
DPARGSFLSA GTRMHFPRGG SAPGPDPSCW FDPNNICGGG LEPGLVFLGF LLVVGMGLAG 
AFLAHYVRHR LLHMQMVSGP NKIILTVDDI TFLHPHGGTS RKVAQGSRSS LGARSMSDIR 
SGPSQHLDSP NIGVYEGDRV WLKKFPGDQH IAIRPATKTA FSKLQELRHE NVALYLGLFL 
ARGAEGPAAL WEGNLAVVSE HCTRGSLQDL LAQREIKLDW MFKSSLLLDL IKGIRYLHHR 
GVAHGRLKSR NCIVDGRFVL KITDHGHGRL LEAQKVLPEP PRAEDQLWTA PELLRDPALE 
RRGTLAGDVF SLAIIMQEVV CRSAPYAMLE LTPEEVVQRV RSPPPLCRPL VSMDQAPVEC 
ILLMKQCWAE QPELRPSMDH TFDLFKNINK GRKTNIIDSM LRMLEQYSSN LEDLIRERTE 
ELELEKQKTD RLLTQMLPPS VAEALKTGTP VEPEYFEQVT LYFSDIVGFT TISAMSEPIE 
VVDLLNDLYT LFDAIIGSHD VYKVETIGDA YMVASGLPQR NGQRHAAEIA NMSLDILSAV 
GTFRMRHMPE VPVRIRIGLH SGPCVAGVVG LTMPRYCLFG DTVNTASRME STGLPYRIHV 
NLSTVGILRA LDSGYQVELR GRTELKGKGA EDTFWLVGRR GFNKPIPKPP DLQPGSSNHG 
ISLQEIPPER RRKLEKARPG QFS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.