GNAT2 - G protein subunit alpha transducin 2 Gene

Also Known as HG1D; ACHM4; GNATC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2780

About GNAT2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,603,091-109,619,616 (from NCBI)

This gene has 3 transcripts (splice variants), 255 orthologues, 15 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 1.0), brain (RPKM 0.1) and 10 other tissues.

Summary

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

GNAT2 Products (3)

mRNA Protein Name
NM_001377295.2 NP_001364224.1 guanine nucleotide-binding protein G(t) subunit alpha-2
NM_001379232.1 NP_001366161.1 guanine nucleotide-binding protein G(t) subunit alpha-2
NM_005272.5 NP_005263.1 guanine nucleotide-binding protein G(t) subunit alpha-2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in detection of light stimulus involved in visual perception IMP
IMP: Inferred from mutant phenotype
12077706 GOA
Cellular Component GO Annotation Evidence References Source
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
2534964 GOA
located in photoreceptor outer segment IDA
IDA: Inferred from direct assay
2534964 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

GNAT2 Protein Structure

G-alpha

G-alpha: G-protein alpha subunit (7 - 343)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

guanine nucleotide-binding protein G(t) subunit alpha-2

  • cone-type transducin alpha subunit

Related Diseases

Diseases Alias
Achromatopsia 4

  • ACHM4

  • Achromatopsia, Type 4
Achromatopsia

  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Progressive Cone Dystrophy

  • Cone Dystrophy

  • Cone Dystrophy Progressive
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
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
Cycloplegia

  • Ciliary Muscle Paresis

  • Cycloplegic Paralysis Of Accommodation

  • Paresis Of Accommodation

  • Visual Accommodation Paralysis

  • Accommodation Paralysis

  • Intrinsic Paralysis Of Eye Muscle

  • Cycloplegic
Microphthalmia, Syndromic 5

  • MCOPS5

  • Syndromic Microphthalmia Type 5

  • Retinal Dystrophy, Early-Onset, With Or Without Pituitary Dysfunction

  • Syndromic Microphthalmia 5

  • Syndromic Microphthalmia/Anophthalmia Due To Otx2 Mutation

  • Microphthalmia Syndromic 5

  • Otx2-Related Eye Disorders

  • Microphthalmia, Syndromic, 5

  • RDEOP

  • Microphthalmia, Syndromic, Type 5
Achromatopsia 7

  • ACHM7

  • Achromatopsia, Type 7
Prolonged Electroretinal Response Suppression

  • Bradyopsia

  • PERRS
Achromatopsia 3

  • ACHM3

  • Pingelapese Blindness

  • Total Colorblindness With Myopia

  • Achromatopsia With Myopia

  • Achm1

  • Rmch1

  • Rod Monochromacy 1

  • Rod Monochromatism 1

  • Achm1, Formerly

  • Rod Monochromatism 1, Formerly

  • Rod Monochromacy 1, Formerly

  • Rmch1, Formerly

  • Achromatopsia-3

  • Achromatopsia, Type 3
Achromatopsia 2

  • ACHM2

  • Rod Monochromatism 2

  • Rod Monochromacy 2

  • Rmch2

  • Colorblindness, Total

  • Complete Achromatopsia

  • Total Colorblindness

  • Achromatopsia-2

  • Achromatopsia, Type 2

  • Color Blindness

  • Achromatopsia
Epidemic Pleurodynia

  • Bornholm Disease

  • Epidemic Myalgia

  • Pleurodynia, Epidemic

  • Devil'S Grip

  • Bamble Disease

  • Epidemic Pleurisy

  • Epidemic, Myositis

  • Dabney'S Grip

  • Epidemic Benign Dry Pleurisy

  • Epidemic Cervical Myalgia
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
Red-Green Color Blindness

  • Deutan Defect

  • Deuteranopia

  • Reduced Red-Green Discrimination

  • Color Blindness, Red-Green

  • Colorblindness, Partial, Deutan Series
Cone-Rod Dystrophy 8

  • CORD8
Tritanopia

  • Blue Color Blindness

  • Colorblindness, Tritan

  • Blue Colorblindness

  • CBT

  • Colorblindness, Tritanopic

  • Tritan Defect

  • Blue Colour Blindness

  • Congenital Tritanopia

  • Tritan Colour Blindness

  • Tritan Color Blindness

  • Color Vision Defects

  • Color Blindness, Blue

  • Color Vision Defect

  • Color Blindness
Colorblindness, Partial, Protan Series

  • Protanopia

  • Red Color Blindness

  • Protan Defect

  • CBP

  • Red Colorblindness

  • Colorblindness, Protan

  • Color Blindness, Red
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
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
Cone-Rod Dystrophy 9

  • CORD9

  • Dystrophy, Cone-Rod, Type 9

  • Retinitis Pigmentosa 9
Eye Accommodation Disease
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
Retinitis Pigmentosa 73

  • RP73

  • Retinitis Pigmentosa, Type 73
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
Pathologic Nystagmus

  • Nystagmus
Retinal Degeneration

  • Degeneration Of Retina
Congenital Nystagmus

  • Nystagmus, Congenital

  • Nystagmus Congenital
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
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
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
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Eye Degenerative Disease
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
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
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
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-RS05542 GNAT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus GNAT2 MGD MGI:95779
Rattus norvegicus GNAT2 RGD RGD:1309514
Bos taurus GNAT2 VGNC VGNC:29455
Canis familiaris GNAT2 VGNC VGNC:41308
Felis catus GNAT2 VGNC VGNC:80221
Macaca mulatta GNAT2 VGNC VGNC:73093
Others GNAT2 NCBI