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Protein

Cyclic nucleotide-gated cation channel alpha-3

Gene

CNGA3

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 cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone 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 efficacy of the channel when coexpressed with CNGB3 (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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei549 – 5491cGMPSequence analysis
Binding sitei564 – 5641cGMPSequence analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi482 – 605124cGMPAdd
BLAST

GO - Molecular functioni

  • cGMP binding Source: UniProtKB
  • intracellular cAMP activated cation channel activity Source: GO_Central
  • intracellular cGMP activated cation channel activity Source: UniProtKB
  • ligand-gated ion channel activity Source: ProtInc
  • voltage-gated potassium channel activity Source: GO_Central

GO - Biological processi

  • cation transport Source: UniProtKB
  • regulation of membrane potential Source: GO_Central
  • response to cAMP Source: Ensembl
  • response to corticosteroid Source: Ensembl
  • response to magnesium ion Source: Ensembl
  • 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

Protein family/group databases

TCDBi1.A.1.5.12. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclic nucleotide-gated cation channel alpha-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit alpha
Cyclic nucleotide-gated channel alpha-3
Short name:
CNG channel alpha-3
Short name:
CNG-3
Short name:
CNG3
Gene namesi
Name:CNGA3
Synonyms:CNCG3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2150. CNGA3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 166166CytoplasmicSequence analysisAdd
BLAST
Transmembranei167 – 18721Helical; Name=H1Sequence analysisAdd
BLAST
Topological domaini188 – 19912ExtracellularSequence analysisAdd
BLAST
Transmembranei200 – 22021Helical; Name=H2Sequence analysisAdd
BLAST
Topological domaini221 – 25232CytoplasmicSequence analysisAdd
BLAST
Transmembranei253 – 27321Helical; Name=H3Sequence analysisAdd
BLAST
Topological domaini274 – 30229ExtracellularSequence analysisAdd
BLAST
Transmembranei303 – 32321Helical; Name=H4Sequence analysisAdd
BLAST
Topological domaini324 – 37855CytoplasmicSequence analysisAdd
BLAST
Transmembranei379 – 39921Helical; Name=H5Sequence analysisAdd
BLAST
Topological domaini400 – 48182ExtracellularSequence analysisAdd
BLAST
Transmembranei482 – 50221Helical; Name=H6Sequence analysisAdd
BLAST
Topological domaini503 – 694192CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Achromatopsia 2 (ACHM2)7 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.
See also OMIM:216900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621D → V in ACHM2. 1 Publication
Corresponds to variant rs747447519 [ dbSNP | Ensembl ].
VAR_047566
Natural varianti163 – 1631P → L in ACHM2. 2 Publications
Corresponds to variant rs104893612 [ dbSNP | Ensembl ].
VAR_010903
Natural varianti171 – 1711W → C in ACHM2; also found in patients with cone-rod dystrophy. 1 Publication
Corresponds to variant rs762773298 [ dbSNP | Ensembl ].
VAR_071436
Natural varianti181 – 1811Y → C in ACHM2. 1 Publication
VAR_047567
Natural varianti182 – 1821N → Y in ACHM2. 1 Publication
VAR_047568
Natural varianti186 – 1861L → F in ACHM2. 1 Publication
VAR_047569
Natural varianti191 – 1911C → Y in ACHM2. 1 Publication
Corresponds to variant rs761554853 [ dbSNP | Ensembl ].
VAR_047570
Natural varianti194 – 1941E → K in ACHM2. 1 Publication
VAR_047571
Natural varianti223 – 2231R → Q in ACHM2. 1 Publication
Corresponds to variant rs762668060 [ dbSNP | Ensembl ].
VAR_071438
Natural varianti223 – 2231R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs138958917 [ dbSNP | Ensembl ].
VAR_047572
Natural varianti224 – 2241T → R in ACHM2. 1 Publication
VAR_047573
Natural varianti228 – 2281E → K in ACHM2; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 1 Publication
Corresponds to variant rs147415641 [ dbSNP | Ensembl ].
VAR_047574
Natural varianti249 – 2491F → S in ACHM2. 1 Publication
VAR_047575
Natural varianti260 – 2601D → N in ACHM2; also found in patients with cone-rod dystrophy. 2 Publications
Corresponds to variant rs374258471 [ dbSNP | Ensembl ].
VAR_047576
Natural varianti263 – 2631Y → D in ACHM2. 1 Publication
VAR_047577
Natural varianti267 – 2671G → D in ACHM2. 1 Publication
VAR_047578
Natural varianti274 – 2741R → K in ACHM2. 1 Publication
VAR_071442
Natural varianti277 – 2771R → C in ACHM2; also found in patients with cone-rod dystrophy. 5 Publications
Corresponds to variant rs104893620 [ dbSNP | Ensembl ].
VAR_047579
Natural varianti277 – 2771R → H in ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels. 2 Publications
VAR_047580
Natural varianti278 – 2781L → P in ACHM2. 1 Publication
Corresponds to variant rs763421555 [ dbSNP | Ensembl ].
VAR_071443
Natural varianti283 – 2831R → Q in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 Publications
Corresponds to variant rs104893614 [ dbSNP | Ensembl ].
VAR_010904
Natural varianti283 – 2831R → W in ACHM2; also found in patients with cone-rod dystrophy. 3 Publications
Corresponds to variant rs104893613 [ dbSNP | Ensembl ].
VAR_010905
Natural varianti291 – 2911T → R in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 Publications
Corresponds to variant rs104893616 [ dbSNP | Ensembl ].
VAR_010906
Natural varianti312 – 3121Missing in ACHM2. 1 Publication
VAR_047581
Natural varianti322 – 3221F → S in ACHM2. 1 Publication
VAR_071444
Natural varianti323 – 3231A → D in ACHM2. 1 Publication
VAR_075493
Natural varianti341 – 3411S → P in ACHM2. 2 Publications
VAR_047582
Natural varianti369 – 3691T → S in ACHM2. 1 Publication
Corresponds to variant rs766637612 [ dbSNP | Ensembl ].
VAR_047583
Natural varianti372 – 3721P → S in ACHM2. 1 Publication
VAR_047584
Natural varianti380 – 3801F → S in ACHM2. 1 Publication
VAR_047585
Natural varianti401 – 4011S → P in ACHM2. 1 Publication
VAR_047586
Natural varianti406 – 4061M → T in ACHM2. 1 Publication
VAR_047587
Natural varianti410 – 4101R → W in ACHM2. 3 Publications
Corresponds to variant rs137852608 [ dbSNP | Ensembl ].
VAR_010910
Natural varianti427 – 4271R → C in ACHM2. 2 Publications
Corresponds to variant rs141386891 [ dbSNP | Ensembl ].
VAR_047588
Natural varianti436 – 4361R → Q in ACHM2. 1 Publication
Corresponds to variant rs767083685 [ dbSNP | Ensembl ].
VAR_071447
Natural varianti436 – 4361R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs104893621 [ dbSNP | Ensembl ].
VAR_047589
Natural varianti439 – 4391R → W in ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius. 2 Publications
Corresponds to variant rs749842881 [ dbSNP | Ensembl ].
VAR_047590
Natural varianti469 – 4691A → T in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 1 Publication
Corresponds to variant rs117522010 [ dbSNP | Ensembl ].
VAR_047591
Natural varianti471 – 4711N → S in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged. 2 Publications
Corresponds to variant rs373954146 [ dbSNP | Ensembl ].
VAR_047592
Natural varianti485 – 4851D → V in ACHM2. 1 Publication
VAR_047593
Natural varianti510 – 5101C → S in ACHM2. 1 Publication
VAR_047594
Natural varianti513 – 5131G → E in ACHM2. 1 Publication
VAR_047595
Natural varianti516 – 5161G → E in ACHM2. 1 Publication
VAR_047596
Natural varianti522 – 5221I → T in ACHM2. 1 Publication
VAR_047597
Natural varianti525 – 5251G → D in ACHM2. 1 Publication
VAR_047598
Natural varianti529 – 5291V → M in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs104893619 [ dbSNP | Ensembl ].
VAR_010907
Natural varianti543 – 5453Missing in ACHM2. 1 Publication
VAR_071449
Natural varianti547 – 5471F → L in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 4 Publications
Corresponds to variant rs104893617 [ dbSNP | Ensembl ].
VAR_010908
Natural varianti548 – 5481G → R in ACHM2. 1 Publication
Corresponds to variant rs781227859 [ dbSNP | Ensembl ].
VAR_047599
Natural varianti557 – 5571G → R in ACHM2; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3. 3 Publications
Corresponds to variant rs104893615 [ dbSNP | Ensembl ].
VAR_010909
Natural varianti563 – 5631R → H in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced. 2 Publications
Corresponds to variant rs552069173 [ dbSNP | Ensembl ].
VAR_047600
Natural varianti565 – 5651T → M in ACHM2. 2 Publications
Corresponds to variant rs201747279 [ dbSNP | Ensembl ].
VAR_047601
Natural varianti569 – 5691R → H in ACHM2. 3 Publications
Corresponds to variant rs201782746 [ dbSNP | Ensembl ].
VAR_047602
Natural varianti573 – 5731Y → C in ACHM2. 1 Publication
VAR_047603
Natural varianti590 – 5901E → K in ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration. 3 Publications
Corresponds to variant rs763041373 [ dbSNP | Ensembl ].
VAR_047604
Natural varianti593 – 5931E → K in ACHM2. 1 Publication
Corresponds to variant rs774676415 [ dbSNP | Ensembl ].
VAR_047605

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

MalaCardsiCNGA3.
MIMi216900. phenotype.
Orphaneti49382. Achromatopsia.
1872. Cone rod dystrophy.
PharmGKBiPA26660.

Chemistry

ChEMBLiCHEMBL1628463.
GuidetoPHARMACOLOGYi396.

Polymorphism and mutation databases

BioMutaiCNGA3.
DMDMi13959682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 694694Cyclic nucleotide-gated cation channel alpha-3PRO_0000219317Add
BLAST

Proteomic databases

PaxDbiQ16281.
PeptideAtlasiQ16281.
PRIDEiQ16281.

PTM databases

iPTMnetiQ16281.
PhosphoSiteiQ16281.

Expressioni

Tissue specificityi

Prominently expressed in retina.

Gene expression databases

BgeeiENSG00000144191.
CleanExiHS_CNGA3.
GenevisibleiQ16281. HS.

Interactioni

Subunit structurei

Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.3 Publications

Protein-protein interaction databases

BioGridi107661. 25 interactions.
IntActiQ16281. 1 interaction.
STRINGi9606.ENSP00000272602.

Structurei

Secondary structure

1
694
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi626 – 66843Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3SWYX-ray1.90A/B/C626-669[»]
ProteinModelPortaliQ16281.
SMRiQ16281. Positions 404-669.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili626 – 66944Add
BLAST

Domaini

The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0500. Eukaryota.
ENOG410YWWI. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000007898.
HOVERGENiHBG000281.
InParanoidiQ16281.
KOiK04950.
OMAiYLWANRK.
OrthoDBiEOG091G03EW.
PhylomeDBiQ16281.
TreeFamiTF319048.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR032406. CLZ_dom.
IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF16526. CLZ. 1 hit.
PF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16281-1) [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
MAKINTQYSH PSRTHLKVKT SDRDLNRAEN GLSRAHSSSE ETSSVLQPGI
60 70 80 90 100
AMETRGLADS GQGSFTGQGI ARLSRLIFLL RRWAARHVHH QDQGPDSFPD
110 120 130 140 150
RFRGAELKEV SSQESNAQAN VGSQEPADRG RSAWPLAKCN TNTSNNTEEE
160 170 180 190 200
KKTKKKDAIV VDPSSNLYYR WLTAIALPVF YNWYLLICRA CFDELQSEYL
210 220 230 240 250
MLWLVLDYSA DVLYVLDVLV RARTGFLEQG LMVSDTNRLW QHYKTTTQFK
260 270 280 290 300
LDVLSLVPTD LAYLKVGTNY PEVRFNRLLK FSRLFEFFDR TETRTNYPNM
310 320 330 340 350
FRIGNLVLYI LIIIHWNACI YFAISKFIGF GTDSWVYPNI SIPEHGRLSR
360 370 380 390 400
KYIYSLYWST LTLTTIGETP PPVKDEEYLF VVVDFLVGVL IFATIVGNVG
410 420 430 440 450
SMISNMNASR AEFQAKIDSI KQYMQFRKVT KDLETRVIRW FDYLWANKKT
460 470 480 490 500
VDEKEVLKSL PDKLKAEIAI NVHLDTLKKV RIFQDCEAGL LVELVLKLRP
510 520 530 540 550
TVFSPGDYIC KKGDIGKEMY IINEGKLAVV ADDGVTQFVV LSDGSYFGEI
560 570 580 590 600
SILNIKGSKS GNRRTANIRS IGYSDLFCLS KDDLMEALTE YPEAKKALEE
610 620 630 640 650
KGRQILMKDN LIDEELARAG ADPKDLEEKV EQLGSSLDTL QTRFARLLAE
660 670 680 690
YNATQMKMKQ RLSQLESQVK GGGDKPLADG EVPGDATKTE DKQQ
Length:694
Mass (Da):78,838
Last modified:May 4, 2001 - v2
Checksum:iAE00B4EE760D70A0
GO
Isoform 2 (identifier: Q16281-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-150: SAWPLAKCNTNTSNNTEEE → R

Note: No experimental confirmation available.
Show »
Length:676
Mass (Da):76,903
Checksum:iC6FB264BE7EB3D8D
GO
Isoform 3 (identifier: Q16281-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MAKINTQYSH...QGSFTGQGIA → METRGLADSG...SPGCSSGPQG

Note: No experimental confirmation available.
Show »
Length:698
Mass (Da):79,062
Checksum:i77B8976209457738
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481P → L.1 Publication
Corresponds to variant rs62156348 [ dbSNP | Ensembl ].
VAR_047565
Natural varianti120 – 1201N → D.1 Publication
Corresponds to variant rs199859850 [ dbSNP | Ensembl ].
VAR_071435
Natural varianti153 – 1531T → M.2 Publications
Corresponds to variant rs34314205 [ dbSNP | Ensembl ].
VAR_010902
Natural varianti162 – 1621D → V in ACHM2. 1 Publication
Corresponds to variant rs747447519 [ dbSNP | Ensembl ].
VAR_047566
Natural varianti163 – 1631P → L in ACHM2. 2 Publications
Corresponds to variant rs104893612 [ dbSNP | Ensembl ].
VAR_010903
Natural varianti171 – 1711W → C in ACHM2; also found in patients with cone-rod dystrophy. 1 Publication
Corresponds to variant rs762773298 [ dbSNP | Ensembl ].
VAR_071436
Natural varianti181 – 1811Y → C in ACHM2. 1 Publication
VAR_047567
Natural varianti182 – 1821N → Y in ACHM2. 1 Publication
VAR_047568
Natural varianti186 – 1861L → F in ACHM2. 1 Publication
VAR_047569
Natural varianti191 – 1911C → Y in ACHM2. 1 Publication
Corresponds to variant rs761554853 [ dbSNP | Ensembl ].
VAR_047570
Natural varianti194 – 1941E → K in ACHM2. 1 Publication
VAR_047571
Natural varianti198 – 1981E → K.1 Publication
VAR_071437
Natural varianti198 – 1981E → K.1 Publication
Corresponds to variant rs2271041 [ dbSNP | Ensembl ].
VAR_021963
Natural varianti223 – 2231R → Q in ACHM2. 1 Publication
Corresponds to variant rs762668060 [ dbSNP | Ensembl ].
VAR_071438
Natural varianti223 – 2231R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs138958917 [ dbSNP | Ensembl ].
VAR_047572
Natural varianti224 – 2241T → I Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
VAR_071439
Natural varianti224 – 2241T → R in ACHM2. 1 Publication
VAR_047573
Natural varianti228 – 2281E → K in ACHM2; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 1 Publication
Corresponds to variant rs147415641 [ dbSNP | Ensembl ].
VAR_047574
Natural varianti247 – 2471T → M.1 Publication
Corresponds to variant rs148616345 [ dbSNP | Ensembl ].
VAR_071440
Natural varianti249 – 2491F → S in ACHM2. 1 Publication
VAR_047575
Natural varianti258 – 2581P → R Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
VAR_071441
Natural varianti260 – 2601D → N in ACHM2; also found in patients with cone-rod dystrophy. 2 Publications
Corresponds to variant rs374258471 [ dbSNP | Ensembl ].
VAR_047576
Natural varianti263 – 2631Y → D in ACHM2. 1 Publication
VAR_047577
Natural varianti267 – 2671G → D in ACHM2. 1 Publication
VAR_047578
Natural varianti274 – 2741R → K in ACHM2. 1 Publication
VAR_071442
Natural varianti277 – 2771R → C in ACHM2; also found in patients with cone-rod dystrophy. 5 Publications
Corresponds to variant rs104893620 [ dbSNP | Ensembl ].
VAR_047579
Natural varianti277 – 2771R → H in ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels. 2 Publications
VAR_047580
Natural varianti278 – 2781L → P in ACHM2. 1 Publication
Corresponds to variant rs763421555 [ dbSNP | Ensembl ].
VAR_071443
Natural varianti283 – 2831R → Q in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 Publications
Corresponds to variant rs104893614 [ dbSNP | Ensembl ].
VAR_010904
Natural varianti283 – 2831R → W in ACHM2; also found in patients with cone-rod dystrophy. 3 Publications
Corresponds to variant rs104893613 [ dbSNP | Ensembl ].
VAR_010905
Natural varianti291 – 2911T → R in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 Publications
Corresponds to variant rs104893616 [ dbSNP | Ensembl ].
VAR_010906
Natural varianti312 – 3121Missing in ACHM2. 1 Publication
VAR_047581
Natural varianti322 – 3221F → S in ACHM2. 1 Publication
VAR_071444
Natural varianti323 – 3231A → D in ACHM2. 1 Publication
VAR_075493
Natural varianti330 – 3301F → S Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
VAR_071445
Natural varianti334 – 3341S → F Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
VAR_071446
Natural varianti335 – 3351W → C.1 Publication
VAR_069398
Natural varianti341 – 3411S → P in ACHM2. 2 Publications
VAR_047582
Natural varianti369 – 3691T → S in ACHM2. 1 Publication
Corresponds to variant rs766637612 [ dbSNP | Ensembl ].
VAR_047583
Natural varianti372 – 3721P → S in ACHM2. 1 Publication
VAR_047584
Natural varianti380 – 3801F → S in ACHM2. 1 Publication
VAR_047585
Natural varianti401 – 4011S → P in ACHM2. 1 Publication
VAR_047586
Natural varianti406 – 4061M → T in ACHM2. 1 Publication
VAR_047587
Natural varianti410 – 4101R → W in ACHM2. 3 Publications
Corresponds to variant rs137852608 [ dbSNP | Ensembl ].
VAR_010910
Natural varianti427 – 4271R → C in ACHM2. 2 Publications
Corresponds to variant rs141386891 [ dbSNP | Ensembl ].
VAR_047588
Natural varianti436 – 4361R → Q in ACHM2. 1 Publication
Corresponds to variant rs767083685 [ dbSNP | Ensembl ].
VAR_071447
Natural varianti436 – 4361R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs104893621 [ dbSNP | Ensembl ].
VAR_047589
Natural varianti439 – 4391R → W in ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius. 2 Publications
Corresponds to variant rs749842881 [ dbSNP | Ensembl ].
VAR_047590
Natural varianti469 – 4691A → T in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 1 Publication
Corresponds to variant rs117522010 [ dbSNP | Ensembl ].
VAR_047591
Natural varianti471 – 4711N → S in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged. 2 Publications
Corresponds to variant rs373954146 [ dbSNP | Ensembl ].
VAR_047592
Natural varianti485 – 4851D → V in ACHM2. 1 Publication
VAR_047593
Natural varianti510 – 5101C → S in ACHM2. 1 Publication
VAR_047594
Natural varianti513 – 5131G → E in ACHM2. 1 Publication
VAR_047595
Natural varianti516 – 5161G → E in ACHM2. 1 Publication
VAR_047596
Natural varianti522 – 5221I → T in ACHM2. 1 Publication
VAR_047597
Natural varianti525 – 5251G → D in ACHM2. 1 Publication
VAR_047598
Natural varianti527 – 5271L → M Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 Publication
VAR_066860
Natural varianti529 – 5291V → M in ACHM2; also found in patients with cone-rod dystrophy. 4 Publications
Corresponds to variant rs104893619 [ dbSNP | Ensembl ].
VAR_010907
Natural varianti533 – 5331D → H Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
Corresponds to variant rs775332304 [ dbSNP | Ensembl ].
VAR_071448
Natural varianti543 – 5453Missing in ACHM2. 1 Publication
VAR_071449
Natural varianti547 – 5471F → L in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 4 Publications
Corresponds to variant rs104893617 [ dbSNP | Ensembl ].
VAR_010908
Natural varianti548 – 5481G → R in ACHM2. 1 Publication
Corresponds to variant rs781227859 [ dbSNP | Ensembl ].
VAR_047599
Natural varianti557 – 5571G → R in ACHM2; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3. 3 Publications
Corresponds to variant rs104893615 [ dbSNP | Ensembl ].
VAR_010909
Natural varianti563 – 5631R → H in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced. 2 Publications
Corresponds to variant rs552069173 [ dbSNP | Ensembl ].
VAR_047600
Natural varianti565 – 5651T → M in ACHM2. 2 Publications
Corresponds to variant rs201747279 [ dbSNP | Ensembl ].
VAR_047601
Natural varianti569 – 5691R → H in ACHM2. 3 Publications
Corresponds to variant rs201782746 [ dbSNP | Ensembl ].
VAR_047602
Natural varianti570 – 5701S → N Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication
VAR_071450
Natural varianti573 – 5731Y → C in ACHM2. 1 Publication
VAR_047603
Natural varianti590 – 5901E → K in ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration. 3 Publications
Corresponds to variant rs763041373 [ dbSNP | Ensembl ].
VAR_047604
Natural varianti593 – 5931E → K in ACHM2. 1 Publication
Corresponds to variant rs774676415 [ dbSNP | Ensembl ].
VAR_047605
Natural varianti646 – 6461R → H.1 Publication
Corresponds to variant rs141577844 [ dbSNP | Ensembl ].
VAR_071451

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7171MAKIN…GQGIA → METRGLADSGQGSFTGQGIA RFGRIQKKSQPEKVVRAASR GRPLIGWTQWCAEDGGDESE MALAGSPGCSSGPQG in isoform 3. 1 PublicationVSP_057075Add
BLAST
Alternative sequencei132 – 15019SAWPL…NTEEE → R in isoform 2. 1 PublicationVSP_042525Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF065314 mRNA. Translation: AAC17440.1.
AK131300 mRNA. Translation: BAD18468.1.
AC092675 Genomic DNA. Translation: AAY24181.1.
BC096298 mRNA. Translation: AAH96298.1.
BC096299 mRNA. Translation: AAH96299.1.
BC096300 mRNA. Translation: AAH96300.1.
S76069 Genomic DNA. Translation: AAD14208.1.
CCDSiCCDS2034.1. [Q16281-1]
CCDS42719.1. [Q16281-2]
PIRiI78560.
S74179.
RefSeqiNP_001073347.1. NM_001079878.1. [Q16281-2]
NP_001289.1. NM_001298.2. [Q16281-1]
UniGeneiHs.234785.

Genome annotation databases

EnsembliENST00000272602; ENSP00000272602; ENSG00000144191. [Q16281-1]
ENST00000393504; ENSP00000377140; ENSG00000144191. [Q16281-1]
ENST00000409937; ENSP00000386761; ENSG00000144191. [Q16281-3]
ENST00000436404; ENSP00000410070; ENSG00000144191. [Q16281-2]
GeneIDi1261.
KEGGihsa:1261.
UCSCiuc002syt.4. human. [Q16281-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the CNGA3 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF065314 mRNA. Translation: AAC17440.1.
AK131300 mRNA. Translation: BAD18468.1.
AC092675 Genomic DNA. Translation: AAY24181.1.
BC096298 mRNA. Translation: AAH96298.1.
BC096299 mRNA. Translation: AAH96299.1.
BC096300 mRNA. Translation: AAH96300.1.
S76069 Genomic DNA. Translation: AAD14208.1.
CCDSiCCDS2034.1. [Q16281-1]
CCDS42719.1. [Q16281-2]
PIRiI78560.
S74179.
RefSeqiNP_001073347.1. NM_001079878.1. [Q16281-2]
NP_001289.1. NM_001298.2. [Q16281-1]
UniGeneiHs.234785.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3SWYX-ray1.90A/B/C626-669[»]
ProteinModelPortaliQ16281.
SMRiQ16281. Positions 404-669.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107661. 25 interactions.
IntActiQ16281. 1 interaction.
STRINGi9606.ENSP00000272602.

Chemistry

ChEMBLiCHEMBL1628463.
GuidetoPHARMACOLOGYi396.

Protein family/group databases

TCDBi1.A.1.5.12. the voltage-gated ion channel (vic) superfamily.

PTM databases

iPTMnetiQ16281.
PhosphoSiteiQ16281.

Polymorphism and mutation databases

BioMutaiCNGA3.
DMDMi13959682.

Proteomic databases

PaxDbiQ16281.
PeptideAtlasiQ16281.
PRIDEiQ16281.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272602; ENSP00000272602; ENSG00000144191. [Q16281-1]
ENST00000393504; ENSP00000377140; ENSG00000144191. [Q16281-1]
ENST00000409937; ENSP00000386761; ENSG00000144191. [Q16281-3]
ENST00000436404; ENSP00000410070; ENSG00000144191. [Q16281-2]
GeneIDi1261.
KEGGihsa:1261.
UCSCiuc002syt.4. human. [Q16281-1]

Organism-specific databases

CTDi1261.
GeneCardsiCNGA3.
GeneReviewsiCNGA3.
HGNCiHGNC:2150. CNGA3.
MalaCardsiCNGA3.
MIMi216900. phenotype.
600053. gene.
neXtProtiNX_Q16281.
Orphaneti49382. Achromatopsia.
1872. Cone rod dystrophy.
PharmGKBiPA26660.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0500. Eukaryota.
ENOG410YWWI. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000007898.
HOVERGENiHBG000281.
InParanoidiQ16281.
KOiK04950.
OMAiYLWANRK.
OrthoDBiEOG091G03EW.
PhylomeDBiQ16281.
TreeFamiTF319048.

Miscellaneous databases

GeneWikiiCyclic_nucleotide-gated_channel_alpha_3.
GenomeRNAii1261.
PROiQ16281.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144191.
CleanExiHS_CNGA3.
GenevisibleiQ16281. HS.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR032406. CLZ_dom.
IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF16526. CLZ. 1 hit.
PF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 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 nameiCNGA3_HUMAN
AccessioniPrimary (citable) accession number: Q16281
Secondary accession number(s): E9PF93
, Q4VAP7, Q53RD2, Q6ZNA7, Q9UP64
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 4, 2001
Last modified: September 7, 2016
This is version 158 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.