Seroatlas · Human Serome Atlas

GNAT2

Guanine nucleotide-binding protein G(t) subunit alpha-2

Also known as: ACHM4, GNAT2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P19087
Gene
GNAT2
Ensembl
ENSG00000134183
Chromosome
1
Canonical length
354 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>P19087|GNAT2
     1  MGSGASAEDK ELAKRSKELE KKLQEDADKE AKTVKLLLLG AGESGKSTIV KQMKIIHQDG
    61  YSPEECLEFK AIIYGNVLQS ILAIIRAMTT LGIDYAEPSC ADDGRQLNNL ADSIEEGTMP
   121  PELVEVIRRL WKDGGVQACF ERAAEYQLND SASYYLNQLE RITDPEYLPS EQDVLRSRVK
   181  TTGIIETKFS VKDLNFRMFD VGGQRSERKK WIHCFEGVTC IIFCAALSAY DMVLVEDDEV
   241  NRMHESLHLF NSICNHKFFA ATSIVLFLNK KDLFEEKIKK VHLSICFPEY DGNNSYDDAG
   301  NYIKSQFLDL NMRKDVKEIY SHMTCATDTQ NVKFVFDAVT DIIIKENLKD CGLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNAT2 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
73 nTPM

Expression across tissuesHPA

Tissue

  • retina: 73 nTPM
  • testis: 2.5 nTPM
  • skin: 1.7 nTPM
  • gallbladder: 0.9 nTPM
  • heart muscle: 0.8 nTPM
  • liver: 0.8 nTPM

Single-cell type

  • cone photoreceptor cells: 230 nCPM
  • cardiomyocytes: 116 nCPM
  • epicardial cells: 48 nCPM
  • neutrophils: 19 nCPM
  • late spermatids: 11 nCPM
  • hematopoietic stem cells: 8.7 nCPM

Immune cell

  • neutrophil: 3.7 nTPM
  • eosinophil: 2.5 nTPM
  • basophil: 2.3 nTPM
  • gdT-cell: 0.6 nTPM
  • MAIT T-cell: 0.6 nTPM
  • non-classical monocyte: 0.6 nTPM

Brain region

  • choroid plexus: 12 nTPM
  • cerebral cortex: 6.8 nTPM
  • hippocampal formation: 6.3 nTPM
  • cerebellum: 6 nTPM
  • pons: 5.7 nTPM
  • amygdala: 5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNAT2.

Disease | AllUniProt

Conditions GNAT2 is implicated in, by any mechanism.

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 259 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)
0.98
gnomAD pLI
0
gnomAD missense Z
0.66
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 GNAT2 as an antibody target. Whether an autoantibody or antibody against GNAT2 could matter depends on whether native GNAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GNAT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GNAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GNAT2. 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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