Details for: CNGA3

Gene ID: 1261

Symbol: CNGA3

Ensembl ID: ENSG00000144191

Description: cyclic nucleotide gated channel subunit alpha 3

Associated with

Other Information

Genular Protein ID: 1617799072

Symbol: CNGA3_HUMAN

Name: Cyclic nucleotide-gated cation channel alpha-3

UniProtKB Accession Codes:

Q16281 E9PF93 Q4VAP7 Q53RD2 Q6ZNA7 Q9UP64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 3 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 9 Ensembl 2 GO 21 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 10 PIR 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 2 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9517456

Title: Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.

PubMed ID: 9517456

DOI: 10.1111/j.1460-9568.1997.tb01680.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7532814

Title: Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.

PubMed ID: 7532814

DOI: 10.1016/0028-3908(94)90027-2

PubMed ID: 10888875

Title: Genetic basis of total colourblindness among the Pingelapese islanders.

PubMed ID: 10888875

DOI: 10.1038/77162

PubMed ID: 15134637

Title: Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.

PubMed ID: 15134637

DOI: 10.1016/s0896-6273(04)00225-9

PubMed ID: 21878911

Title: Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels.

PubMed ID: 21878911

DOI: 10.1038/ncomms1466

PubMed ID: 9662398

Title: Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

PubMed ID: 9662398

DOI: 10.1038/935

PubMed ID: 11536077

Title: CNGA3 mutations in hereditary cone photoreceptor disorders.

PubMed ID: 11536077

DOI: 10.1086/323613

PubMed ID: 14757870

Title: Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PubMed ID: 14757870

DOI: 10.1136/jmg.2003.011437

PubMed ID: 15743887

Title: Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

PubMed ID: 15743887

DOI: 10.1152/ajpcell.00490.2004

PubMed ID: 15712225

Title: Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PubMed ID: 15712225

DOI: 10.1002/humu.20142

PubMed ID: 18521937

Title: Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

PubMed ID: 18521937

DOI: 10.1002/humu.20790

PubMed ID: 21901789

Title: Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

PubMed ID: 21901789

DOI: 10.1002/humu.21587

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

PubMed ID: 24903488

Title: Identification of CNGA3 mutations in 46 Families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

PubMed ID: 24903488

DOI: 10.1001/jamaophthalmol.2014.1032

PubMed ID: 26493561

Title: Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

PubMed ID: 26493561

DOI: 10.1186/s12967-015-0694-7

Sequence Information:

  • Length: 694
  • Mass: 78838
  • Checksum: AE00B4EE760D70A0
  • Sequence:
    • MAKINTQYSH PSRTHLKVKT SDRDLNRAEN GLSRAHSSSE ETSSVLQPGI AMETRGLADS 
GQGSFTGQGI ARLSRLIFLL RRWAARHVHH QDQGPDSFPD RFRGAELKEV SSQESNAQAN 
VGSQEPADRG RSAWPLAKCN TNTSNNTEEE KKTKKKDAIV VDPSSNLYYR WLTAIALPVF 
YNWYLLICRA CFDELQSEYL MLWLVLDYSA DVLYVLDVLV RARTGFLEQG LMVSDTNRLW 
QHYKTTTQFK LDVLSLVPTD LAYLKVGTNY PEVRFNRLLK FSRLFEFFDR TETRTNYPNM 
FRIGNLVLYI LIIIHWNACI YFAISKFIGF GTDSWVYPNI SIPEHGRLSR KYIYSLYWST 
LTLTTIGETP PPVKDEEYLF VVVDFLVGVL IFATIVGNVG SMISNMNASR AEFQAKIDSI 
KQYMQFRKVT KDLETRVIRW FDYLWANKKT VDEKEVLKSL PDKLKAEIAI NVHLDTLKKV 
RIFQDCEAGL LVELVLKLRP TVFSPGDYIC KKGDIGKEMY IINEGKLAVV ADDGVTQFVV 
LSDGSYFGEI SILNIKGSKS GNRRTANIRS IGYSDLFCLS KDDLMEALTE YPEAKKALEE 
KGRQILMKDN LIDEELARAG ADPKDLEEKV EQLGSSLDTL QTRFARLLAE YNATQMKMKQ 
RLSQLESQVK GGGDKPLADG EVPGDATKTE DKQQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.