Details for: CNGA3
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
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.
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.
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
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
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
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
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
PubMed ID: 15134637
Title: Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.
PubMed ID: 15134637
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
PubMed ID: 37463923
Title: Conformational trajectory of allosteric gating of the human cone photoreceptor cyclic nucleotide-gated channel.
PubMed ID: 37463923
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
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
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
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
PubMed ID: 26493561
Title: Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
PubMed ID: 26493561
PubMed ID: 35233102
Title: Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.
PubMed ID: 35233102
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.