Details for: CNGB1

Gene ID: 1258

Symbol: CNGB1

Ensembl ID: ENSG00000070729

Description: cyclic nucleotide gated channel subunit beta 1

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: mucosal type mast cell (CL0000485)
    Fold Change: 12.2090
    Cell Significance Index: -4.9600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.5770
    Cell Significance Index: 729.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 5.1951
    Cell Significance Index: -4.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.7655
    Cell Significance Index: 185.9500
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.7366
    Cell Significance Index: 38.4400
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.6456
    Cell Significance Index: 8.0600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2695
    Cell Significance Index: 7.6900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.2192
    Cell Significance Index: 2.6600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2048
    Cell Significance Index: 3.5100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1200
    Cell Significance Index: 1.4300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0911
    Cell Significance Index: 2.8800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0877
    Cell Significance Index: 4.5700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0824
    Cell Significance Index: 0.6800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0547
    Cell Significance Index: 0.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0489
    Cell Significance Index: 9.8100
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0377
    Cell Significance Index: 0.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0309
    Cell Significance Index: 1.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0104
    Cell Significance Index: 3.7400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.0079
    Cell Significance Index: 0.0700
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.0052
    Cell Significance Index: 0.0400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0037
    Cell Significance Index: 0.0500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0004
    Cell Significance Index: 0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.3300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0021
    Cell Significance Index: -3.8900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0021
    Cell Significance Index: -0.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0026
    Cell Significance Index: -3.9600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0039
    Cell Significance Index: -5.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0048
    Cell Significance Index: -3.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0053
    Cell Significance Index: -2.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0064
    Cell Significance Index: -4.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0070
    Cell Significance Index: -1.2700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0070
    Cell Significance Index: -5.3300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0084
    Cell Significance Index: -1.4400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0089
    Cell Significance Index: -0.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0091
    Cell Significance Index: -1.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0092
    Cell Significance Index: -5.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0092
    Cell Significance Index: -5.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0101
    Cell Significance Index: -4.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0145
    Cell Significance Index: -4.1600
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: -0.0155
    Cell Significance Index: -0.1100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0171
    Cell Significance Index: -0.7500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0182
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0241
    Cell Significance Index: -2.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0251
    Cell Significance Index: -0.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0260
    Cell Significance Index: -3.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0272
    Cell Significance Index: -5.7300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0310
    Cell Significance Index: -1.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0343
    Cell Significance Index: -3.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0383
    Cell Significance Index: -5.2600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0396
    Cell Significance Index: -5.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0427
    Cell Significance Index: -2.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0433
    Cell Significance Index: -3.0600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0521
    Cell Significance Index: -5.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0535
    Cell Significance Index: -4.1100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0592
    Cell Significance Index: -3.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0676
    Cell Significance Index: -3.1500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0714
    Cell Significance Index: -1.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0719
    Cell Significance Index: -5.3600
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0825
    Cell Significance Index: -1.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0915
    Cell Significance Index: -2.4900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0928
    Cell Significance Index: -3.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0944
    Cell Significance Index: -4.4400
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0974
    Cell Significance Index: -1.1000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0989
    Cell Significance Index: -2.4000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1093
    Cell Significance Index: -3.4800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1097
    Cell Significance Index: -1.0400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1127
    Cell Significance Index: -3.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1142
    Cell Significance Index: -2.9400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1152
    Cell Significance Index: -5.2200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1177
    Cell Significance Index: -0.8000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1210
    Cell Significance Index: -5.3500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1266
    Cell Significance Index: -2.4700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1277
    Cell Significance Index: -1.4900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1347
    Cell Significance Index: -3.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1350
    Cell Significance Index: -3.9800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1392
    Cell Significance Index: -3.7300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1413
    Cell Significance Index: -4.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1413
    Cell Significance Index: -5.3500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1562
    Cell Significance Index: -3.2700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1643
    Cell Significance Index: -1.7900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1700
    Cell Significance Index: -2.3500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1742
    Cell Significance Index: -3.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1772
    Cell Significance Index: -3.8800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1782
    Cell Significance Index: -3.8500
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1793
    Cell Significance Index: -1.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1807
    Cell Significance Index: -6.3500
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.1829
    Cell Significance Index: -1.9300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1833
    Cell Significance Index: -3.7300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1870
    Cell Significance Index: -4.6700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1872
    Cell Significance Index: -5.3700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1914
    Cell Significance Index: -4.5900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1917
    Cell Significance Index: -4.0000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1917
    Cell Significance Index: -5.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1936
    Cell Significance Index: -4.1100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1947
    Cell Significance Index: -4.9600
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.1951
    Cell Significance Index: -1.5300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1963
    Cell Significance Index: -2.2300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1977
    Cell Significance Index: -4.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1978
    Cell Significance Index: -5.7000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1998
    Cell Significance Index: -3.9500

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 CNGB1 gene encodes a beta subunit of CNG channels, which are heteromeric channels composed of alpha, beta, and gamma subunits. The beta subunit is essential for the assembly and function of CNG channels. The CNGB1 protein is a transmembrane protein with an extracellular N-terminus, a transmembrane domain, and an intracellular C-terminus. The protein interacts with other proteins, such as the alpha subunit and the gamma subunit, to form functional CNG channels. **Pathways and Functions** CNG channels, including those composed of the CNGB1 subunit, play a crucial role in various cellular processes, including: 1. **Phototransduction**: CNG channels in photoreceptor cells of the retina are activated by light, leading to a decrease in intracellular cGMP and a subsequent decrease in intracellular calcium, which triggers a signal transduction cascade that ultimately leads to visual perception. 2. **Olfactory perception**: CNG channels in olfactory neurons are activated by odorants, leading to a decrease in intracellular cGMP and a subsequent increase in intracellular calcium, which triggers a signal transduction cascade that ultimately leads to the perception of smell. 3. **Sensory perception**: CNG channels are also involved in the detection of other sensory stimuli, such as light and sound. 4. **Ciliary function**: CNG channels in cilia play a crucial role in the detection of chemical stimuli and the regulation of ciliary function. **Clinical Significance** Dysfunction of CNG channels, including those composed of the CNGB1 subunit, has been implicated in various neurological and ophthalmological disorders, including: 1. **Retinitis pigmentosa**: A group of genetic disorders characterized by progressive vision loss due to photoreceptor degeneration. 2. **Olfactory disorders**: CNG channel dysfunction has been implicated in various olfactory disorders, including anosmia and hyposmia. 3. **Visual impairments**: CNG channel dysfunction has been implicated in various visual impairments, including photophobia and visual field defects. In conclusion, the CNGB1 gene plays a crucial role in the detection of light and odorants, and its dysfunction has been implicated in various neurological and ophthalmological disorders. Further research is needed to fully understand the mechanisms of CNG channel function and the clinical significance of CNGB1 dysfunction.

Genular Protein ID: 1215173794

Symbol: CNGB1_HUMAN

Name: Cyclic nucleotide-gated channel beta-1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7682292

Title: A new subunit of the cyclic nucleotide-gated cation channel in retinal rods.

PubMed ID: 7682292

DOI: 10.1038/362764a0

PubMed ID: 7590744

Title: cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel.

PubMed ID: 7590744

DOI: 10.1006/geno.1995.1102

PubMed ID: 8766832

Title: The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit.

PubMed ID: 8766832

DOI: 10.1016/0014-5793(96)00588-1

PubMed ID: 9535905

Title: Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin.

PubMed ID: 9535905

DOI: 10.1074/jbc.273.15.9148

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 10717482

Title: Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene.

PubMed ID: 10717482

DOI: 10.1016/s0378-1119(00)00023-8

PubMed ID: 11764791

Title: Nomenclature for ion channel subunits.

PubMed ID: 11764791

DOI: 10.1126/science.294.5549.2095

PubMed ID: 15195096

Title: Calmodulin permanently associates with rat olfactory CNG channels under native conditions.

PubMed ID: 15195096

DOI: 10.1038/nn1266

PubMed ID: 16407240

Title: The glutamic acid-rich protein-2 (GARP2) is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties.

PubMed ID: 16407240

DOI: 10.1074/jbc.m507488200

PubMed ID: 16280326

Title: Glutamic acid-rich proteins of rod photoreceptors are natively unfolded.

PubMed ID: 16280326

DOI: 10.1074/jbc.m505012200

PubMed ID: 34699778

Title: Structural mechanisms of assembly, permeation, gating, and pharmacology of native human rod CNG channel.

PubMed ID: 34699778

DOI: 10.1016/j.neuron.2021.10.006

PubMed ID: 11379879

Title: Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

PubMed ID: 11379879

DOI: 10.1007/s004390100496

PubMed ID: 24339724

Title: Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

PubMed ID: 24339724

PubMed ID: 28056120

Title: Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

PubMed ID: 28056120

DOI: 10.1001/jamaophthalmol.2016.5213

PubMed ID: 29800053

Title: Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

PubMed ID: 29800053

DOI: 10.1001/jamaophthalmol.2018.1621

Sequence Information:

  • Length: 1251
  • Mass: 139678
  • Checksum: 7A45CB399EB2B20C
  • Sequence:
  • MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES ESMPPEESFK 
    EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR RVLTWLMKGV EKVIPQPVHS 
    ITEDPAQILG HGSTGDTGCT DEPNEALEAQ DTRPGLRLLL WLEQNLERVL PQPPKSSEVW 
    RDEPAVATGA ASDPAPPGRP QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ 
    AQTSSLPPTR DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV 
    EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI EEEKEDEEEE 
    EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST SDQKLWEEVG EEAKKEAEEK 
    AKEEAEEVAE EEAEKEPQDW AETKEEPEAE AEAASSGVPA TKQHPEVQVE DTDADSCPLM 
    AEENPPSTVL PPPSPAKSDT LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD 
    PTTPKDTDGQ DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP 
    SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP LTNLMYVLWL 
    FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL IYFLDITVFQ TRLQFVRGGD 
    IITDKKDMRN NYLKSRRFKM DLLSLLPLDF LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE 
    SILSKAYVYR VIRTTAYLLY SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV 
    KTLITIGGLP DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST 
    VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI DVNYNIVSKV 
    ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY IIQAGQVQVL GGPDGKSVLV 
    TLKAGSVFGE ISLLAVGGGN RRTANVVAHG FTNLFILDKK DLNEILVHYP ESQKLLRKKA 
    RRMLRSNNKP KEEKSVLILP PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA 
    ALEAAAKQQE LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP 
    PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA E

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.