Seroatlas · Human Serome Atlas

CNGA3

Cyclic nucleotide-gated channel alpha-3

Also known as: ACHM2, CCNC1, CCNCa, CNCG3, CNG3, CNGA3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q16281
Gene
CNGA3
Ensembl
ENSG00000144191
Chromosome
2
Canonical length
694 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

694 residues, UniProt reviewed canonical sequence.

>Q16281|CNGA3
     1  MAKINTQYSH PSRTHLKVKT SDRDLNRAEN GLSRAHSSSE ETSSVLQPGI AMETRGLADS
    61  GQGSFTGQGI ARLSRLIFLL RRWAARHVHH QDQGPDSFPD RFRGAELKEV SSQESNAQAN
   121  VGSQEPADRG RSAWPLAKCN TNTSNNTEEE KKTKKKDAIV VDPSSNLYYR WLTAIALPVF
   181  YNWYLLICRA CFDELQSEYL MLWLVLDYSA DVLYVLDVLV RARTGFLEQG LMVSDTNRLW
   241  QHYKTTTQFK LDVLSLVPTD LAYLKVGTNY PEVRFNRLLK FSRLFEFFDR TETRTNYPNM
   301  FRIGNLVLYI LIIIHWNACI YFAISKFIGF GTDSWVYPNI SIPEHGRLSR KYIYSLYWST
   361  LTLTTIGETP PPVKDEEYLF VVVDFLVGVL IFATIVGNVG SMISNMNASR AEFQAKIDSI
   421  KQYMQFRKVT KDLETRVIRW FDYLWANKKT VDEKEVLKSL PDKLKAEIAI NVHLDTLKKV
   481  RIFQDCEAGL LVELVLKLRP TVFSPGDYIC KKGDIGKEMY IINEGKLAVV ADDGVTQFVV
   541  LSDGSYFGEI SILNIKGSKS GNRRTANIRS IGYSDLFCLS KDDLMEALTE YPEAKKALEE
   601  KGRQILMKDN LIDEELARAG ADPKDLEEKV EQLGSSLDTL QTRFARLLAE YNATQMKMKQ
   661  RLSQLESQVK GGGDKPLADG EVPGDATKTE DKQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNGA3 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)
0.42
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • pituitary gland: 10 nTPM
  • retina: 5.4 nTPM
  • colon: 5.1 nTPM
  • choroid plexus: 4.7 nTPM
  • hypothalamus: 2.7 nTPM
  • spinal cord: 2.2 nTPM

Single-cell type

  • lactotrophs: 58 nCPM
  • cone photoreceptor cells: 44 nCPM
  • thyrotrophs: 43 nCPM
  • somatotrophs: 40 nCPM
  • choroid plexus epithelial cells: 16 nCPM
  • late primary spermatocytes: 14 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

  • spinal cord: 12 nTPM
  • hypothalamus: 12 nTPM
  • white matter: 8.4 nTPM
  • medulla oblongata: 7.5 nTPM
  • choroid plexus: 6.2 nTPM
  • midbrain: 3.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNGA3.

Disease | AllUniProt

Conditions CNGA3 is implicated in, by any mechanism.

Disease | GeneticClinVar

224 pathogenic / likely-pathogenic of 806 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)
1.49
gnomAD pLI
0
gnomAD missense Z
-0.04
DepMap mean gene effect
-0.18
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CNGA3 as an antibody target. Whether an autoantibody or antibody against CNGA3 could matter depends on whether native CNGA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNGA3 is annotated at the cell surface, where native CNGA3 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 CNGA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CNGA3. 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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