Seroatlas · Human Serome Atlas

CNGB3

Cyclic nucleotide-gated channel beta-3

Also known as: ACHM1, ACHM3, CNGB3_HUMAN, RMCH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NQW8
Gene
CNGB3
Ensembl
ENSG00000170289
Chromosome
8
Canonical length
809 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

OverviewNCBI Gene

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

809 residues, UniProt reviewed canonical sequence.

>Q9NQW8|CNGB3
     1  MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE KSLKTKSTPV
    61  TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE QKEMDPGKEG PNSPQNKPPA
   121  APVINEYADA QLHNLVKRMR QRTALYKKKL VEGDLSSPEA SPQTAKPTAV PPVKESDDKP
   181  TEHYYRLLWF KVKKMPLTEY LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL
   241  VFPYQTADNI HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF
   301  QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI YRVIRTTGYL
   361  LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW AVRTLITIGG LPEPQTLFEI
   421  VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA NQNYFRACMD DTIAYMNNYS IPKLVQKRVR
   481  TWYEYTWDSQ RMLDESDLLK TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL
   541  KSVLYLPGDF VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG
   601  GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA KTAEATPPRK
   661  DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA QKKENSEGGE EEGKENEDKQ
   721  KENEDKQKEN EDKGKENEDK DKGREPEEKP LDRPECTASP IAVEEEPHSV RRTVLPRGTS
   781  RQSLIISMAP SAEGGEEVLT IEVKEKAKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNGB3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • retina: 12 nTPM
  • bone marrow: 3.9 nTPM
  • choroid plexus: 2 nTPM
  • testis: 1.9 nTPM
  • skin: 1.1 nTPM
  • fallopian tube: 0.8 nTPM

Single-cell type

  • cone photoreceptor cells: 855 nCPM
  • retinal pigment epithelial cells: 772 nCPM
  • cardiomyocytes: 298 nCPM
  • mesothelial cells: 52 nCPM
  • epicardial cells: 48 nCPM
  • retinal horizontal cells: 36 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 5.7 nTPM
  • cerebellum: 4.3 nTPM
  • cerebral cortex: 2.9 nTPM
  • midbrain: 2.8 nTPM
  • basal ganglia: 2.5 nTPM
  • hippocampal formation: 2.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNGB3.

Disease | AllUniProt

Conditions CNGB3 is implicated in, by any mechanism.

Disease | GeneticClinVar

277 pathogenic / likely-pathogenic of 1,358 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.02
gnomAD pLI
0
gnomAD missense Z
-1.18
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CNGB3 as an antibody target. Whether an autoantibody or antibody against CNGB3 could matter depends on whether native CNGB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNGB3 is annotated at the cell surface, where native CNGB3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CNGB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CNGB3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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