CNGB3 - cyclic nucleotide gated channel subunit beta 3 Gene

Also Known as ACHM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54714

About CNGB3

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:86,574,179-86,743,634 (from NCBI)

This gene has 6 transcripts (splice variants), 141 orthologues, 17 paralogues and is associated with 7 phenotypes. Biased expression in testis (RPKM 1.1), endometrium (RPKM 0.1) and 1 other tissue.

Summary

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

CNGB3 Products (1)

mRNA	Protein	Name
NM_019098.5	NP_061971.3	cyclic nucleotide-gated cation channel beta-3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cGMP binding	IDA IDA: Inferred from direct assay	24164424	GOA
enables intracellularly cAMP-activated cation channel activity	IDA IDA: Inferred from direct assay	12815043	GOA
enables intracellularly cGMP-activated cation channel activity	IDA IDA: Inferred from direct assay	12815043	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in monoatomic cation transport	IDA IDA: Inferred from direct assay	24164424	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	12815043	GOA
part of transmembrane transporter complex	IDA IDA: Inferred from direct assay	24164424	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

CNGB3 Protein Structure

cNMP_binding

0
200
400
600
809 a.a.

Protein Preferred Names	Protein Names
cyclic nucleotide-gated cation channel beta-3	CNG channel beta-3

Related Diseases

Diseases	Alias
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	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Severe Early-Childhood-Onset Retinal Dystrophy	Eosrd Early-Onset Severe Retinal Dystrophy Secord Retinal Dystrophy, Early Onset Severe
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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-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
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
Achromatopsia 2	ACHM2 Rod Monochromatism 2 Rod Monochromacy 2 Rmch2 Colorblindness, Total Complete Achromatopsia Total Colorblindness Achromatopsia-2 Achromatopsia, Type 2 Color Blindness Achromatopsia
Focal Chorioretinitis
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
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
Achromatopsia 4	ACHM4 Achromatopsia, Type 4
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
Retinal Cone Dystrophy 3b	RCD3B Cone Dystrophy With Supernormal Rod Response Cone Dystrophy With Supernormal Rod Electroretinogram Cone Dystrophy With Supernormal Rod Responses Cdsrr Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related Cone Dystrophy With Supernormal Rod Erg Cone Dystrophy With Supernormal Scotopic Electroretinogram Cone Dystrophy Retinal 3b Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related Doid:0081022 Dystrophy, Retinal Cone, Type 3b
Cone-Rod Dystrophy 1	CORD1 Crd1 Cone-Rod Retinal Dystrophy-1 Retinitis Pigmentosa 1
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
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
Cycloplegia	Ciliary Muscle Paresis Cycloplegic Paralysis Of Accommodation Paresis Of Accommodation Visual Accommodation Paralysis Accommodation Paralysis Intrinsic Paralysis Of Eye Muscle Cycloplegic
Pathologic Nystagmus	Nystagmus
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Cone-Rod Dystrophy 9	CORD9 Dystrophy, Cone-Rod, Type 9 Retinitis Pigmentosa 9
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
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
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Multilocular Clear Cell Renal Cell Carcinoma	Cystadenocarcinoma Of Kidney Renal Cystadenocarcinoma
Prolonged Electroretinal Response Suppression	Bradyopsia PERRS
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
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
Cone-Rod Dystrophy 8	CORD8
Lissencephaly 4	LIS4 Lissencephaly 4 With Microcephaly Microlissencephaly Lissencephaly, Type 4
Hereditary Choroidal Atrophy	Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy	Choroidal Dystrophy, Central Areolar
Retinitis Pigmentosa 45	RP45 Retinitis Pigmentosa, Type 45
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
Retinitis Pigmentosa 20	RP20 Retinitis Pigmentosa, Type 20
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation	Lymphedema, Microcephaly And Chorioretinopathy Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability MCLMR Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome Mlcrd Syndrome Cdmmr Syndrome Lymphedema And Retinal Folds With Microcephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant Lymphedema, Microcephaly, Chorioretinopathy Syndrome Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome Microcephaly-Lymphedema-Chorioretinopathy Syndrome Mlcrd Lymphedema Microcephaly Chorioretinopathy Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Retinitis Pigmentosa 37	RP37 Retinitis Pigmentosa-37 Retinitis Pigmentosa, Type 37
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
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Retinitis Pigmentosa 25	RP25 Retinitis Pigmentosa-25 Retinitis Pigmentosa, Type 25
Eye Accommodation Disease
Alternating Exotropia	Exotropia
Ischemic Neuropathy	Ischemic Peripheral Neuropathy
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
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
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Eye Degenerative Disease
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
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
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
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis

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-RS02884	CNGB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CNGB3	MGD	MGI:1353562
Canis familiaris	CNGB3	VGNC	VGNC:39398
Felis catus	CNGB3	VGNC	VGNC:61014
Bos taurus	CNGB3	VGNC	VGNC:58368
Macaca mulatta	CNGB3	VGNC	VGNC:71276
Rattus norvegicus	CNGB3	RGD	RGD:1565364