GUCY2D - guanylate cyclase 2D, retinal Gene

Also Known as LCA; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3000

About GUCY2D

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,002,615-8,020,342 (from NCBI)

This gene has 2 transcripts (splice variants), 133 orthologues, 17 paralogues and is associated with 10 phenotypes. Low expression observed in reference dataset.

Summary

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]

GUCY2D Products (1)

mRNA Protein Name
NM_000180.4 NP_000171.1 retinal guanylyl cyclase 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables guanylate cyclase activity IDA
IDA: Inferred from direct assay
21928830 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21078983 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
30319355 GOA
located in photoreceptor outer segment IDA
IDA: Inferred from direct assay
7912093 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GUCY2D Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (75 - 398)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (576 - 800)

HNOBA

HNOBA: Heme NO binding associated (827 - 865)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (873 - 1057)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1103 a.a.
Protein Preferred Names Protein Names

retinal guanylyl cyclase 1

  • ROS-GC

GUCY2D Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GUCY2D Q02846 RD3 Homo sapiens Q7Z3Z2
Anti Bait CoIP
21078983
Intra
GUCY2D Q02846 RD3 Homo sapiens Q7Z3Z2
Confocal
21078983
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Choroidal Dystrophy, Central Areolar, 1

  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy
Cone-Rod Dystrophy 6

  • CORD6

  • Retinal Cone Dystrophy 2

  • Rcd2

  • Dystrophy, Cone-Rod, Type 6

  • Retinitis Pigmentosa 6

  • Progressive Cone Degeneration

  • Cone Dystrophy
Leber Congenital Amaurosis 1

  • LCA1

  • Amaurosis Congenita Of Leber I

  • Lca

  • Retinal Blindness, Congenital

  • Crb

  • Leber Congenital Amaurosis Type I

  • Leber Congenital Amaurosis, Type 1

  • Amaurosis Congenita Of Leber, Type 1
Night Blindness, Congenital Stationary, Type1i

  • CSNB1I

  • Night Blindness, Congenital Stationary, Type 1i

  • Night Blindness, Congenital Stationary, 1i
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Progressive Cone Dystrophy

  • Cone Dystrophy

  • Cone Dystrophy Progressive
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Retinal Disease

  • Retinal Diseases

  • Retinal Disorder

  • Retinal Disorders
Keratoconus

  • Kc

  • Conical Cornea

  • Noninflammatory Corneal Thining

  • Bulging Cornea

  • Cornea Conical

  • Acquired Conus Of Cornea
Night Blindness

  • Nyctalopia
Leber Congenital Amaurosis 12

  • LCA12

  • Leber Congenital Amaurosis, Type 12
Retinal Degeneration

  • Degeneration Of Retina
Cone-Rod Dystrophy 9

  • CORD9

  • Dystrophy, Cone-Rod, Type 9

  • Retinitis Pigmentosa 9
Hereditary Choroidal Atrophy

  • Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy

  • Choroidal Dystrophy, Central Areolar
Leber Congenital Amaurosis 4

  • LCA4

  • Retinitis Pigmentosa, Juvenile

  • Cone-Rod Dystrophy

  • Leber Congenital Amaurosis, Type 4

  • Retinitis Pigmentosa
Cone-Rod Dystrophy 5

  • CORD5

  • Dystrophy, Cone-Rod, Type 5
Pseudopapilledema
Cone-Rod Dystrophy 17

  • CORD17
Leber Congenital Amaurosis 6

  • LCA6

  • Leber Congenital Amaurosis, Type 6
Pigmented Paravenous Chorioretinal Atrophy

  • Pigmented Paravenous Retinochoroidal Atrophy

  • PPCRA

  • Pprca

  • Atrophy, Chorioretinal, Pigmented Paravenous
Leber Congenital Amaurosis 8

  • LCA8

  • Leber Congenital Amaurosis, Type 8
Leber Congenital Amaurosis 3

  • LCA3

  • Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive

  • Leber Congenital Amaurosis, Type 3

  • Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 2

  • LCA2

  • Amaurosis Congenita Of Leber Ii

  • Amaurosis Congenita Of Leber, Type 2

  • Leber Congenital Amaurosis Type Ii

  • Leber Congenital Amaurosis, Type 2

  • Leber Congenital Amaurosis, Type Ii
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Occult Macular Dystrophy

  • OCMD

  • Omd

  • Dystrophy, Macular, Occult
Retinal Cone Dystrophy 1

  • RCD1

  • Retinal Cone Dystrophy-1

  • Retinal Cone Degeneration

  • Cone Dystrophy, Autosomal Dominant

  • Cone Dystrophy Autosomal Dominant

  • Doid:0081024
Retinoschisis 1, X-Linked, Juvenile

  • Retinoschisis

  • X-Linked Retinoschisis

  • X-Linked Juvenile Retinoschisis

  • RS1

  • XLRS1

  • X-Linked Juvenile Retinoschisis 1

  • Xlrs

  • Retinoschisis, X-Linked

  • Rs

  • Congenital X-Linked Retinoschisis

  • Degenerative Retinoschisis

  • Juvenile Retinoschisis

  • Xjr

  • Retinoschisis Juvenile X-Linked 1

  • Retinoschisis, Juvenile, X-Linked

  • Retinoschisis, Degenerative
Leber Congenital Amaurosis 11

  • LCA11

  • Leber Congenital Amaurosis, Type 11
Leber Congenital Amaurosis 16

  • LCA16

  • Leber Congenital Amaurosis, Type 16
Leber Congenital Amaurosis 10

  • LCA10

  • Leber Congenital Amaurosis, Type 10
Leber Congenital Amaurosis 7

  • LCA7

  • Leber Congenital Amaurosis, Type 7
Intellectual Developmental Disorder, Autosomal Dominant 3

  • MRD3

  • Autosomal Dominant Non-Syndromic Intellectual Disability 3

  • Mental Retardation, Autosomal Dominant 3

  • Autosomal Dominant Intellectual Developmental Disorder 3
Cone-Rod Dystrophy 3

  • CORD3

  • Dystrophy, Cone Rod, Type 3
Leber Congenital Amaurosis 9

  • LCA9

  • Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 15

  • LCA15

  • Leber Congenital Amaurosis, Type 15
Choroid Disease

  • Choroid Diseases

  • Abnormality Of The Choroid
Farsightedness

  • Hypermetropia

  • Hyperopia

  • Far-Sightedness

  • Farsighted

  • Long-Sighted

  • Long-Sightedness
Achromatopsia

  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3
Hereditary Retinal Dystrophy

  • Hereditary Retinal Dystrophies
Color Blindness

  • Color Vision Defect

  • Blindness Color

  • Colour Blindness

  • Colour Vision Deficiency

  • Color Vision Deficiency

  • Color Vision Defects

  • Defective Color Vision

  • Vision Defect, Color

  • Color-Vision Disease

  • Dyschromatopsia
Blue Cone Monochromacy

  • Blue Cone Monochromatism

  • BCM

  • Cbbm

  • Color Blindness Blue Mono Cone Monochromatic Type

  • Cone Dystrophy 5, X-Linked

  • Colorblindness, Blue-Mono-Cone-Monochromatic Type

  • Achromatopsia Incomplete X-Linked

  • Incomplete Achromatopsia X-Linked

  • X-Chromosome-Linked Achromatopsia

  • X-Linked Achromatopsia Incomplete

  • Atypical X-Linked Achromatopsia

  • Color Blindness, Blue Monocone Monochromatic Type

  • S Cone Monochromacy

  • S Cone Monochromatism

  • X-Linked Incomplete Achromatopsia

  • Colorblindness Blue-Mono-Cone-Monochromatic Type

  • Cone Dystrophy 5

  • COD5

  • Cone Dystrophy 5 X-Linked

  • Monochromacy, Blue Cone

  • Cone Monochromatism

  • Achromatopsia Incomplete, X-Linked
Cold-Induced Sweating Syndrome 3
Eye Degenerative Disease
Enophthalmos
Scotoma

  • Enlarged Blind Spot

  • Scotoma Of Blind Spot Area

  • Blind Spot Area Scotoma

  • Enlarged Angioscotoma

  • Enlarged Paracaecal Scotoma

  • Generalized Visual Field Contraction Or Constriction

  • Sector Or Arcuate Visual Field Defects
Stargardt Disease

  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease
Fundus Albipunctatus

  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Choroideremia

  • CHM

  • Tcd

  • Progressive Tapetochoroidal Dystrophy

  • Choroidal Sclerosis

  • Tapetochoroidal Dystrophy, Progressive

  • Progressive Choroidal Atrophy

  • Tapetochoroidal Dystrophy
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Retinitis Pigmentosa 38

  • RP38

  • Rod-Cone Dystrophy, Childhood-Onset

  • Retinitis Pigmentosa, Type 38
Macular Degeneration, Age-Related, 1

  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2
Refractive Error

  • Refractive Errors
Enhanced S-Cone Syndrome

  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced
Senior-Loken Syndrome 1

  • Senior-Loken Syndrome

  • Renal Dysplasia And Retinal Aplasia

  • Renal-Retinal Syndrome

  • Loken-Senior Syndrome

  • Juvenile Nephronophthisis With Leber Amaurosis

  • SLSN1

  • Senior-Loken Syndrome-1

  • Loken Senior Syndrome

  • Senior Loken Syndrome

  • Renal Dysplasia Retinal Aplasia

  • Nephronophthisis With Retinal Dystrophy

  • Renal Dysplasia-Retinal Aplasia Syndrome

  • Slsn
Physical Disorder

  • Physical Illness
Usher Syndrome

  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes
Late-Onset Retinal Degeneration

  • LORD

  • Retinal Degeneration, Late-Onset, Autosomal Dominant

  • Autosomal Dominant Late-Onset Retinal Degeneration

  • Pigmentary Retinopathy

  • Retinal Degeneration, Late-Onset

  • Retinitis Pigmentosa
Usher Syndrome Type 2

  • Ush2

  • Usher Syndrome Type Ii
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05922 GUCY2D Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta GUCY2D VGNC VGNC:73329
Rattus norvegicus GUCY2D RGD RGD:620438
Canis familiaris GUCY2D VGNC VGNC:41570
Felis catus GUCY2D VGNC VGNC:67517
Mus musculus GUCY2D MGD MGI:105123
Bos taurus GUCY2D VGNC VGNC:29723
Others GUCY2D NCBI