Details for: CNGA3

Gene ID: 1261

Symbol: CNGA3

Ensembl ID: ENSG00000144191

Description: cyclic nucleotide gated channel subunit alpha 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 7.28
    Marker Score: 4031
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.15
    Marker Score: 3173
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.78
    Marker Score: 3840
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.15
    Marker Score: 1133
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1995
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.87
    Marker Score: 1060
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.67
    Marker Score: 1867
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.38
    Marker Score: 578
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.37
    Marker Score: 2596
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.21
    Marker Score: 706
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 487
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.16
    Marker Score: 506
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.16
    Marker Score: 1231.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4817
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 503
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48054
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5356
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.9
    Marker Score: 822.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.89
    Marker Score: 1802
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 330
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.76
    Marker Score: 11963
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.76
    Marker Score: 441
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 442
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.63
    Marker Score: 1296
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.59
    Marker Score: 941.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.5
    Marker Score: 303
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.49
    Marker Score: 3235
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 277
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.44
    Marker Score: 140
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 184
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.37
    Marker Score: 194
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.33
    Marker Score: 215
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.32
    Marker Score: 245
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.31
    Marker Score: 309
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.31
    Marker Score: 312
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.28
    Marker Score: 103
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.23
    Marker Score: 84
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.22
    Marker Score: 84
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.2
    Marker Score: 175
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.19
    Marker Score: 670
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.19
    Marker Score: 85
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.19
    Marker Score: 48
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.18
    Marker Score: 95
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.18
    Marker Score: 63
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.18
    Marker Score: 100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.17
    Marker Score: 126
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.16
    Marker Score: 60
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.16
    Marker Score: 375
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.16
    Marker Score: 176
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.16
    Marker Score: 49
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.16
    Marker Score: 602
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.15
    Marker Score: 167
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.15
    Marker Score: 58
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.15
    Marker Score: 283
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.14
    Marker Score: 44
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.13
    Marker Score: 1206
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.12
    Marker Score: 91
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.12
    Marker Score: 111
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.11
    Marker Score: 314
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.1
    Marker Score: 121
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.1
    Marker Score: 22
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1
    Marker Score: 73
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.09
    Marker Score: 129
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.09
    Marker Score: 155
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.09
    Marker Score: 23
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.09
    Marker Score: 355
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.08
    Marker Score: 37
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.07
    Marker Score: 71
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.07
    Marker Score: 64
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.07
    Marker Score: 294
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.07
    Marker Score: 112

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * The CNGA3 gene is located on chromosome 15q21.1. * It encodes a protein of 120 amino acids. * The protein is a transmembrane protein, with a single transmembrane domain and two extracellular loops. * The protein is a member of the cyclic nucleotide-gated channel (CNG) family of ion channels. * The CNGA3 protein is a ligand-gated channel, meaning that it opens in response to the binding of a specific ligand. **Pathways and functions:** The CNGA3 protein is a key regulator of intracellular calcium signaling. When the CNGA3 protein is bound by its ligand, it opens, allowing calcium ions to flow into the cell. This calcium influx can lead to a variety of cellular responses, including cell growth, differentiation, and migration. **Clinical significance:** Mutations in the CNGA3 gene have been linked to a number of human diseases, including cancer, heart disease, and stroke. These mutations can lead to the abnormal opening of CNG channels, which can promote cell growth and migration. This can lead to the development of tumors. **Additional information:** * The CNGA3 gene is also expressed in the eyes of the fly and is involved in visual perception. * The CNGA3 protein is a relatively conserved protein, with a similar protein found in mammals. * The CNGA3 protein is a promising target for cancer therapy.

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. For the full schema, download it here.