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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 3.5644
    Cell Significance Index: 60.9300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.9564
    Cell Significance Index: 47.3900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.1346
    Cell Significance Index: 15.9400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.9985
    Cell Significance Index: 61.2200
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.5523
    Cell Significance Index: 8.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3547
    Cell Significance Index: 7.6900
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.2912
    Cell Significance Index: 3.5200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2567
    Cell Significance Index: 48.8500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1763
    Cell Significance Index: 6.2000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1656
    Cell Significance Index: 16.3800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1565
    Cell Significance Index: 141.3100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1060
    Cell Significance Index: 2.6500
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0809
    Cell Significance Index: 1.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0802
    Cell Significance Index: 13.0500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0542
    Cell Significance Index: 5.9000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0419
    Cell Significance Index: 0.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0328
    Cell Significance Index: 1.0500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0322
    Cell Significance Index: 2.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0280
    Cell Significance Index: 1.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0160
    Cell Significance Index: 0.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0150
    Cell Significance Index: 3.0100
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.0039
    Cell Significance Index: 0.0500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0038
    Cell Significance Index: 0.1700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0014
    Cell Significance Index: 0.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0012
    Cell Significance Index: 0.0600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0007
    Cell Significance Index: 0.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0014
    Cell Significance Index: -1.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0014
    Cell Significance Index: -2.5600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0018
    Cell Significance Index: -1.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0022
    Cell Significance Index: -4.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0028
    Cell Significance Index: -4.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0033
    Cell Significance Index: -4.5000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0042
    Cell Significance Index: -3.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0051
    Cell Significance Index: -3.1800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0052
    Cell Significance Index: -2.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0057
    Cell Significance Index: -3.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0059
    Cell Significance Index: -1.7000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0063
    Cell Significance Index: -0.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0075
    Cell Significance Index: -2.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0083
    Cell Significance Index: -3.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0095
    Cell Significance Index: -1.8800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0103
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0119
    Cell Significance Index: -2.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0191
    Cell Significance Index: -3.4400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0194
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0211
    Cell Significance Index: -3.6100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0217
    Cell Significance Index: -2.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0250
    Cell Significance Index: -3.6300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0267
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0291
    Cell Significance Index: -3.3300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0297
    Cell Significance Index: -3.0900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0299
    Cell Significance Index: -3.6800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0330
    Cell Significance Index: -0.9200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0356
    Cell Significance Index: -1.4600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0360
    Cell Significance Index: -0.9000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0377
    Cell Significance Index: -0.9700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0378
    Cell Significance Index: -0.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0410
    Cell Significance Index: -2.3000
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0515
    Cell Significance Index: -0.5100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0518
    Cell Significance Index: -0.7900
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.0523
    Cell Significance Index: -0.3800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0534
    Cell Significance Index: -1.7000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0566
    Cell Significance Index: -0.9700
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0598
    Cell Significance Index: -1.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0617
    Cell Significance Index: -3.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0620
    Cell Significance Index: -1.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0621
    Cell Significance Index: -3.8200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0631
    Cell Significance Index: -2.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0639
    Cell Significance Index: -2.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0687
    Cell Significance Index: -3.0400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0729
    Cell Significance Index: -1.0400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0754
    Cell Significance Index: -3.9300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0791
    Cell Significance Index: -2.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0794
    Cell Significance Index: -2.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0795
    Cell Significance Index: -3.0100
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0799
    Cell Significance Index: -0.9500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0852
    Cell Significance Index: -2.4300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0875
    Cell Significance Index: -2.2300
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.0875
    Cell Significance Index: -0.9300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0898
    Cell Significance Index: -2.2400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1019
    Cell Significance Index: -0.6400
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1045
    Cell Significance Index: -0.6800
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1061
    Cell Significance Index: -0.9200
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1122
    Cell Significance Index: -1.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1168
    Cell Significance Index: -3.1200
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: -0.1183
    Cell Significance Index: -0.8800
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1204
    Cell Significance Index: -1.9500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1204
    Cell Significance Index: -2.5200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1204
    Cell Significance Index: -1.2500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1255
    Cell Significance Index: -2.1700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1433
    Cell Significance Index: -2.9900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1434
    Cell Significance Index: -1.8800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1435
    Cell Significance Index: -2.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1443
    Cell Significance Index: -3.1600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1445
    Cell Significance Index: -4.5700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1451
    Cell Significance Index: -3.0800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1453
    Cell Significance Index: -3.1400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1463
    Cell Significance Index: -1.5900
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1489
    Cell Significance Index: -2.9700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1509
    Cell Significance Index: -3.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The CNGA3 gene shares significant homology with other CNG channel genes, including CNGA1 and CNGB3, which are also involved in sensory perception and neurotransmission. The alpha-3 subunit is characterized by its ability to form functional CNG channels in conjunction with other subunits, such as the beta-3 subunit. The CNGA3 gene is also notable for its expression in multiple cell types, including those involved in hematopoiesis and immune function. **Pathways and Functions** CNG channels, including those formed by the alpha-3 subunit, play a crucial role in various cellular processes, including: 1. **Sensory Perception**: CNG channels are involved in the detection of light, color, and other visual stimuli, and are also expressed in the inner ear, where they contribute to the detection of sound. 2. **Neurotransmission**: CNG channels are involved in the regulation of neurotransmitter release and synaptic transmission, particularly in the central nervous system. 3. **Cell Signaling**: CNG channels can modulate various signaling pathways, including those involved in cell growth, differentiation, and survival. 4. **Immune Function**: CNG channels are expressed in immune cells, including T cells and macrophages, and are involved in the regulation of immune responses. **Clinical Significance** Dysregulation of CNG channels, including those formed by the alpha-3 subunit, has been implicated in various neurological and immune disorders, including: 1. **Retinal Degeneration**: Mutations in the CNGA1 gene, which shares significant homology with CNGA3, have been associated with retinal degeneration and blindness. 2. **Immune Disorders**: Alterations in CNG channel function have been implicated in various immune disorders, including multiple sclerosis and rheumatoid arthritis. 3. **Neurological Disorders**: Dysregulation of CNG channels has also been implicated in various neurological disorders, including epilepsy and Parkinson's disease. In conclusion, the CNGA3 gene plays a critical role in various cellular processes, including sensory perception, neurotransmission, and immune function. Dysregulation of CNG channels, including those formed by the alpha-3 subunit, has been implicated in various neurological and immune disorders, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 1617799072

Symbol: CNGA3_HUMAN

Name: Cyclic nucleotide-gated channel alpha-3

UniProtKB Accession Codes:

Database IDs:

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: 11764791

Title: Nomenclature for ion channel subunits.

PubMed ID: 11764791

DOI: 10.1126/science.294.5549.2095

PubMed ID: 12815043

Title: Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.

PubMed ID: 12815043

DOI: 10.1074/jbc.m305102200

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: 34969976

Title: Structure of the human cone photoreceptor cyclic nucleotide-gated channel.

PubMed ID: 34969976

DOI: 10.1038/s41594-021-00699-y

PubMed ID: 37463923

Title: Conformational trajectory of allosteric gating of the human cone photoreceptor cyclic nucleotide-gated channel.

PubMed ID: 37463923

DOI: 10.1038/s41467-023-39971-8

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

PubMed ID: 35233102

Title: Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.

PubMed ID: 35233102

DOI: 10.1038/s42003-022-03120-6

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.