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Protein

Cyclic nucleotide-gated cation channel beta-3

Gene

CNGB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei592cGMPBy similarity1
Binding sitei604cGMPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi532 – 676cGMPBy similarityAdd BLAST145

GO - Molecular functioni

GO - Biological processi

  • cation transport Source: UniProtKB
  • regulation of membrane potential Source: GO_Central
  • signal transduction Source: ProtInc
  • transport Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel

Keywords - Biological processi

Ion transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

cGMP, cGMP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170289-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclic nucleotide-gated cation channel beta-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit beta
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-3
Short name:
CNG channel beta-3
Gene namesi
Name:CNGB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:2153. CNGB3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 216CytoplasmicSequence analysisAdd BLAST216
Transmembranei217 – 237Helical; Name=H1Sequence analysisAdd BLAST21
Topological domaini238 – 250ExtracellularSequence analysisAdd BLAST13
Transmembranei251 – 271Helical; Name=H2Sequence analysisAdd BLAST21
Topological domaini272 – 302CytoplasmicSequence analysisAdd BLAST31
Transmembranei303 – 323Helical; Name=H3Sequence analysisAdd BLAST21
Topological domaini324 – 359ExtracellularSequence analysisAdd BLAST36
Transmembranei360 – 380Helical; Name=H4Sequence analysisAdd BLAST21
Topological domaini381 – 417CytoplasmicSequence analysisAdd BLAST37
Transmembranei418 – 438Helical; Name=H5Sequence analysisAdd BLAST21
Topological domaini439 – 504ExtracellularSequence analysisAdd BLAST66
Transmembranei505 – 525Helical; Name=H6Sequence analysisAdd BLAST21
Topological domaini526 – 809CytoplasmicSequence analysisAdd BLAST284

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 1 (STGD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
See also OMIM:248200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047615469Y → D in STGD1. 1 PublicationCorresponds to variant rs35365413dbSNPEnsembl.1
Achromatopsia 3 (ACHM3)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.
See also OMIM:262300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047608107G → R in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs146688972dbSNPEnsembl.1
Natural variantiVAR_047609148K → E in ACHM3. 1 PublicationCorresponds to variant rs369138501dbSNPEnsembl.1
Natural variantiVAR_047610156S → F in ACHM3. 1 PublicationCorresponds to variant rs139207764dbSNPEnsembl.1
Natural variantiVAR_047611199E → K in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs114305748dbSNPEnsembl.1
Natural variantiVAR_025524203R → Q in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs16916632dbSNPEnsembl.1
Natural variantiVAR_047612309P → L in ACHM3. 1 Publication1
Natural variantiVAR_018111435S → F in ACHM3. 3 PublicationsCorresponds to variant rs121918344dbSNPEnsembl.1
Natural variantiVAR_047614466M → T in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs35010099dbSNPEnsembl.1
Natural variantiVAR_047616494D → N in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047617513D → Y in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs765884344dbSNPEnsembl.1
Natural variantiVAR_047618525F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_047619558G → C in ACHM3. 1 PublicationCorresponds to variant rs749413012dbSNPEnsembl.1
Natural variantiVAR_047620595L → F in ACHM3. 1 Publication1
Natural variantiVAR_047621672T → P in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047622720 – 726Missing in ACHM3. 1 Publication7

Keywords - Diseasei

Disease mutation, Stargardt disease

Organism-specific databases

DisGeNETi54714.
MalaCardsiCNGB3.
MIMi248200. phenotype.
262300. phenotype.
OpenTargetsiENSG00000170289.
Orphaneti49382. Achromatopsia.
1871. Progressive cone dystrophy.
827. Stargardt disease.
PharmGKBiPA26663.

Polymorphism and mutation databases

BioMutaiCNGB3.
DMDMi311033366.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193201 – 809Cyclic nucleotide-gated cation channel beta-3Add BLAST809

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi468N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NQW8.
PeptideAtlasiQ9NQW8.
PRIDEiQ9NQW8.

PTM databases

iPTMnetiQ9NQW8.
PhosphoSitePlusiQ9NQW8.

Expressioni

Tissue specificityi

Expressed specifically in the retina.1 Publication

Gene expression databases

BgeeiENSG00000170289.
CleanExiHS_CNGB3.
ExpressionAtlasiQ9NQW8. baseline and differential.
GenevisibleiQ9NQW8. HS.

Organism-specific databases

HPAiCAB012803.

Interactioni

Subunit structurei

Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000316605.

Structurei

3D structure databases

ProteinModelPortaliQ9NQW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0499. Eukaryota.
ENOG410ZJ5U. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000231425.
HOVERGENiHBG051038.
InParanoidiQ9NQW8.
KOiK04953.
OMAiVDLFKGC.
OrthoDBiEOG091G03EW.
PhylomeDBiQ9NQW8.
TreeFamiTF318250.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR032943. CNG6.
IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PANTHERiPTHR10217:SF385. PTHR10217:SF385. 1 hit.
PfamiPF00027. cNMP_binding. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQW8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE
60 70 80 90 100
KSLKTKSTPV TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE
110 120 130 140 150
QKEMDPGKEG PNSPQNKPPA APVINEYADA QLHNLVKRMR QRTALYKKKL
160 170 180 190 200
VEGDLSSPEA SPQTAKPTAV PPVKESDDKP TEHYYRLLWF KVKKMPLTEY
210 220 230 240 250
LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL VFPYQTADNI
260 270 280 290 300
HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF
310 320 330 340 350
QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI
360 370 380 390 400
YRVIRTTGYL LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW
410 420 430 440 450
AVRTLITIGG LPEPQTLFEI VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA
460 470 480 490 500
NQNYFRACMD DTIAYMNNYS IPKLVQKRVR TWYEYTWDSQ RMLDESDLLK
510 520 530 540 550
TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL KSVLYLPGDF
560 570 580 590 600
VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG
610 620 630 640 650
GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA
660 670 680 690 700
KTAEATPPRK DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA
710 720 730 740 750
QKKENSEGGE EEGKENEDKQ KENEDKQKEN EDKGKENEDK DKGREPEEKP
760 770 780 790 800
LDRPECTASP IAVEEEPHSV RRTVLPRGTS RQSLIISMAP SAEGGEEVLT

IEVKEKAKQ
Length:809
Mass (Da):92,167
Last modified:November 2, 2010 - v2
Checksum:iD16EE71A6149BDB5
GO
Isoform 2 (identifier: Q9NQW8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     590-594: Missing.

Note: No experimental confirmation available.
Show »
Length:804
Mass (Da):91,633
Checksum:i803A5D65F2CEBDE2
GO

Sequence cautioni

The sequence AAF80179 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04760625R → H.1 PublicationCorresponds to variant rs141098074dbSNPEnsembl.1
Natural variantiVAR_04760727N → S.1 PublicationCorresponds to variant rs35807406dbSNPEnsembl.1
Natural variantiVAR_047608107G → R in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs146688972dbSNPEnsembl.1
Natural variantiVAR_047609148K → E in ACHM3. 1 PublicationCorresponds to variant rs369138501dbSNPEnsembl.1
Natural variantiVAR_047610156S → F in ACHM3. 1 PublicationCorresponds to variant rs139207764dbSNPEnsembl.1
Natural variantiVAR_047611199E → K in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs114305748dbSNPEnsembl.1
Natural variantiVAR_025524203R → Q in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs16916632dbSNPEnsembl.1
Natural variantiVAR_018109234C → W.1 PublicationCorresponds to variant rs6471482dbSNPEnsembl.1
Natural variantiVAR_018110298T → P.2 PublicationsCorresponds to variant rs4961206dbSNPEnsembl.1
Natural variantiVAR_024418307I → V.2 PublicationsCorresponds to variant rs13265557dbSNPEnsembl.1
Natural variantiVAR_047612309P → L in ACHM3. 1 Publication1
Natural variantiVAR_047613403R → Q Found in macular degeneration; unknown pathological significance. 1 PublicationCorresponds to variant rs147876778dbSNPEnsembl.1
Natural variantiVAR_018111435S → F in ACHM3. 3 PublicationsCorresponds to variant rs121918344dbSNPEnsembl.1
Natural variantiVAR_047614466M → T in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs35010099dbSNPEnsembl.1
Natural variantiVAR_047615469Y → D in STGD1. 1 PublicationCorresponds to variant rs35365413dbSNPEnsembl.1
Natural variantiVAR_047616494D → N in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047617513D → Y in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant rs765884344dbSNPEnsembl.1
Natural variantiVAR_047618525F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_047619558G → C in ACHM3. 1 PublicationCorresponds to variant rs749413012dbSNPEnsembl.1
Natural variantiVAR_047620595L → F in ACHM3. 1 Publication1
Natural variantiVAR_047621672T → P in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047622720 – 726Missing in ACHM3. 1 Publication7
Natural variantiVAR_025525750P → S.Corresponds to variant rs3735971dbSNPEnsembl.1
Natural variantiVAR_018112755E → G.2 PublicationsCorresponds to variant rs3735972dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009742590 – 594Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272900 mRNA. Translation: AAF86274.1.
AC013751 Genomic DNA. No translation available.
AC090572 Genomic DNA. No translation available.
AF228520 mRNA. Translation: AAF80179.1. Different initiation.
CCDSiCCDS6244.1. [Q9NQW8-1]
RefSeqiNP_061971.3. NM_019098.4. [Q9NQW8-1]
UniGeneiHs.154433.

Genome annotation databases

EnsembliENST00000320005; ENSP00000316605; ENSG00000170289. [Q9NQW8-1]
GeneIDi54714.
KEGGihsa:54714.
UCSCiuc003ydx.3. human. [Q9NQW8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272900 mRNA. Translation: AAF86274.1.
AC013751 Genomic DNA. No translation available.
AC090572 Genomic DNA. No translation available.
AF228520 mRNA. Translation: AAF80179.1. Different initiation.
CCDSiCCDS6244.1. [Q9NQW8-1]
RefSeqiNP_061971.3. NM_019098.4. [Q9NQW8-1]
UniGeneiHs.154433.

3D structure databases

ProteinModelPortaliQ9NQW8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000316605.

PTM databases

iPTMnetiQ9NQW8.
PhosphoSitePlusiQ9NQW8.

Polymorphism and mutation databases

BioMutaiCNGB3.
DMDMi311033366.

Proteomic databases

PaxDbiQ9NQW8.
PeptideAtlasiQ9NQW8.
PRIDEiQ9NQW8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320005; ENSP00000316605; ENSG00000170289. [Q9NQW8-1]
GeneIDi54714.
KEGGihsa:54714.
UCSCiuc003ydx.3. human. [Q9NQW8-1]

Organism-specific databases

CTDi54714.
DisGeNETi54714.
GeneCardsiCNGB3.
GeneReviewsiCNGB3.
H-InvDBHIX0034272.
HGNCiHGNC:2153. CNGB3.
HPAiCAB012803.
MalaCardsiCNGB3.
MIMi248200. phenotype.
262300. phenotype.
605080. gene.
neXtProtiNX_Q9NQW8.
OpenTargetsiENSG00000170289.
Orphaneti49382. Achromatopsia.
1871. Progressive cone dystrophy.
827. Stargardt disease.
PharmGKBiPA26663.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0499. Eukaryota.
ENOG410ZJ5U. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000231425.
HOVERGENiHBG051038.
InParanoidiQ9NQW8.
KOiK04953.
OMAiVDLFKGC.
OrthoDBiEOG091G03EW.
PhylomeDBiQ9NQW8.
TreeFamiTF318250.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170289-MONOMER.

Miscellaneous databases

GeneWikiiCyclic_nucleotide_gated_channel_beta_3.
GenomeRNAii54714.
PROiQ9NQW8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170289.
CleanExiHS_CNGB3.
ExpressionAtlasiQ9NQW8. baseline and differential.
GenevisibleiQ9NQW8. HS.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR032943. CNG6.
IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PANTHERiPTHR10217:SF385. PTHR10217:SF385. 1 hit.
PfamiPF00027. cNMP_binding. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCNGB3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQW8
Secondary accession number(s): C9JA51, Q9NRE9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.