Gene GUCY2D - ENSG00000132518 | NCBI Gene ID: 3000

Details for: GUCY2D

Gene ID: 3000

Symbol: GUCY2D

Ensembl ID: ENSG00000132518

Description: guanylate cyclase 2D, retinal

Associated with

Inactivation, recovery and regulation of the phototransduction cascade
(R-HSA-2514859)
Sensory perception
(R-HSA-9709957)
The phototransduction cascade
(R-HSA-2514856)
Visual phototransduction
(R-HSA-2187338)
Adenylate cyclase activity
(GO:0004016)
Atp binding
(GO:0005524)
Cgmp-mediated signaling
(GO:0019934)
Cgmp biosynthetic process
(GO:0006182)
Endoplasmic reticulum membrane
(GO:0005789)
Gtp binding
(GO:0005525)
Guanylate cyclase activity
(GO:0004383)
Nuclear outer membrane
(GO:0005640)
Peptide receptor activity
(GO:0001653)
Photoreceptor disc membrane
(GO:0097381)
Photoreceptor outer segment
(GO:0001750)
Photoreceptor outer segment membrane
(GO:0042622)
Plasma membrane
(GO:0005886)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Protein kinase activity
(GO:0004672)
Receptor guanylyl cyclase signaling pathway
(GO:0007168)
Regulation of rhodopsin mediated signaling pathway
(GO:0022400)
Signaling receptor activity
(GO:0038023)
Visual perception
(GO:0007601)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 2.19
Marker Score: 2201
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1172
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.39
Marker Score: 1387
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.22
Marker Score: 2320
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.17
Marker Score: 487
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.15
Marker Score: 4818
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.13
Marker Score: 2300
Cell Name: pericyte (CL0000669)
Fold Change: 1.04
Marker Score: 610
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.04
Marker Score: 797
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71830
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48055
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 509
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30409
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 462
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.96
Marker Score: 651
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5343
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.93
Marker Score: 374
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2741
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.91
Marker Score: 326
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.88
Marker Score: 262
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5291
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.83
Marker Score: 382
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 0.8
Marker Score: 1648
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1262
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 709
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 396
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.74
Marker Score: 11619
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 178
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.57
Marker Score: 342
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.55
Marker Score: 354
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.55
Marker Score: 173
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.48
Marker Score: 154
Cell Name: goblet cell (CL0000160)
Fold Change: 0.41
Marker Score: 2744
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.37
Marker Score: 372
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.37
Marker Score: 176
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.31
Marker Score: 81
Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.3
Marker Score: 868
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.3
Marker Score: 456
Cell Name: respiratory basal cell (CL0002633)
Fold Change: 0.27
Marker Score: 388.5
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.25
Marker Score: 91
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.25
Marker Score: 131
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.23
Marker Score: 65
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 74
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 0.21
Marker Score: 1663
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.2
Marker Score: 89
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.2
Marker Score: 120
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 0.2
Marker Score: 1304
Cell Name: photoreceptor cell (CL0000210)
Fold Change: 0.2
Marker Score: 148
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.19
Marker Score: 123
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.19
Marker Score: 128
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 0.19
Marker Score: 99
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.19
Marker Score: 59
Cell Name: mast cell (CL0000097)
Fold Change: 0.18
Marker Score: 103
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.17
Marker Score: 399
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.17
Marker Score: 42
Cell Name: S cone cell (CL0003050)
Fold Change: 0.17
Marker Score: 50
Cell Name: keratinocyte (CL0000312)
Fold Change: 0.16
Marker Score: 133
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 0.16
Marker Score: 156
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.15
Marker Score: 116
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.14
Marker Score: 59
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.13
Marker Score: 129
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.13
Marker Score: 58
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.12
Marker Score: 297
Cell Name: promonocyte (CL0000559)
Fold Change: 0.12
Marker Score: 76
Cell Name: retinal pigment epithelial cell (CL0002586)
Fold Change: 0.12
Marker Score: 34
Cell Name: dendritic cell (CL0000451)
Fold Change: 0.12
Marker Score: 79
Cell Name: retinal cone cell (CL0000573)
Fold Change: 0.11
Marker Score: 328
Cell Name: pneumocyte (CL0000322)
Fold Change: 0.1
Marker Score: 167
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.1
Marker Score: 60
Cell Name: plasma cell (CL0000786)
Fold Change: 0.1
Marker Score: 111
Cell Name: microglial cell (CL0000129)
Fold Change: 0.1
Marker Score: 180
Cell Name: lactocyte (CL0002325)
Fold Change: 0.1
Marker Score: 1554
Cell Name: retina horizontal cell (CL0000745)
Fold Change: 0.1
Marker Score: 92
Cell Name: macrophage (CL0000235)
Fold Change: 0.09
Marker Score: 103
Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: 0.09
Marker Score: 49
Cell Name: club cell (CL0000158)
Fold Change: 0.09
Marker Score: 106
Cell Name: neuron (CL0000540)
Fold Change: 0.09
Marker Score: 362
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.09
Marker Score: 139
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 0.09
Marker Score: 454
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 0.08
Marker Score: 42
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 0.08
Marker Score: 724
Cell Name: germ cell (CL0000586)
Fold Change: 0.08
Marker Score: 141
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.08
Marker Score: 832
Cell Name: type I enteroendocrine cell (CL0002277)
Fold Change: 0.08
Marker Score: 20
Cell Name: monocyte (CL0000576)
Fold Change: 0.08
Marker Score: 104
Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
Fold Change: 0.08
Marker Score: 18
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.08
Marker Score: 71
Cell Name: gamma-delta T cell (CL0000798)
Fold Change: 0.08
Marker Score: 53
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.08
Marker Score: 125
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.08
Marker Score: 20
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.08
Marker Score: 35
Cell Name: skin fibroblast (CL0002620)
Fold Change: 0.08
Marker Score: 20
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.08
Marker Score: 18
Cell Name: astrocyte (CL0000127)
Fold Change: 0.08
Marker Score: 66
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.08
Marker Score: 711
Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 0.07
Marker Score: 18
Cell Name: group 3 innate lymphoid cell (CL0001071)
Fold Change: 0.07
Marker Score: 31
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.07
Marker Score: 36

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## Summary GUCY2D is a protein involved in the regulation of the phototransduction cascade in the human eye. It is expressed in various cell types in the eye, including blood vessel endothelial cells, colon goblet cells, enterocytes, cardiac endothelial cells, and retinal cells. ## Key characteristics * GUCY2D is a guanylate cyclase, an enzyme that catalyzes the formation of cyclic GMP from GTP and inorganic phosphate. * It is a key regulator of the phototransduction cascade, which is responsible for converting light into electrical signals that are sent to the brain. * GUCY2D is also involved in the regulation of rhodopsin-mediated signaling pathway, which is responsible for vision. ## Pathways and functions * GUCY2D is involved in the regulation of the phototransduction cascade by controlling the activity of the retinal guanylyl cyclase (RGC). * RGC is responsible for converting light into electrical signals that are sent to the brain. * GUCY2D works by binding to the RGC and inhibiting its activity. * This prevents the RGC from converting light into electrical signals, which results in the cessation of the phototransduction cascade and the loss of vision. ## Clinical significance Mutations in GUCY2D have been linked to a number of eye diseases, including: * Retinitis pigmentosa: A genetic disorder that causes the degeneration of photoreceptors in the retina. * Diabetic retinopathy: A condition that damages the blood-aqueous barrier of the eye, leading to dry eyes and vision loss. * Macular degeneration: A condition that damages the macula, the central part of the eye that contains the photoreceptors. GUCY2D is a promising target for the treatment of eye diseases that are caused by mutations in the GUCY2D gene. By inhibiting the activity of GUCY2D, it may be possible to restore vision in patients with these diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Retinal guanylyl cyclase 1

Genular Protein ID: 911614344

Symbol: GUC2D_HUMAN

Name: Retinal guanylyl cyclase 1

UniProtKB Accession Codes:

Q02846 Q6LEA7

Database IDs:

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. For the full schema, download it here.

Details for: GUCY2D

Associated with

Cells (max top 100)

Other Information

Molecular cloning of a retina-specific membrane guanylyl cyclase. PubMed ID: 1356371

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. PubMed ID: 7806240

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator. PubMed ID: 7912093

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase. PubMed ID: 9600905

Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis. PubMed ID: 9391039

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. PubMed ID: 8944027

A retGC-1 mutation in autosomal dominant cone-rod dystrophy. PubMed ID: 9683616

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. PubMed ID: 9618177

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. PubMed ID: 9888789

Mutational analysis and clinical correlation in Leber congenital amaurosis. PubMed ID: 11035546

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. PubMed ID: 12365911

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. PubMed ID: 12552567

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. PubMed ID: 15111605

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. PubMed ID: 15123990

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. PubMed ID: 16123401

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. PubMed ID: 17724218

Patterns of somatic mutation in human cancer genomes. PubMed ID: 17344846

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. PubMed ID: 18332321

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. PubMed ID: 18487367

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. PubMed ID: 20517349

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. PubMed ID: 21078983

Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. PubMed ID: 21928830

A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. PubMed ID: 22695961

Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface. PubMed ID: 26100624

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. PubMed ID: 30319355

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

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. PubMed ID: 22194653

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PubMed ID: 21602930

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. PubMed ID: 23734073

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. PubMed ID: 24480840

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. PubMed ID: 25515582

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. PubMed ID: 27475985

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. PubMed ID: 29559409