Seroatlas · Human Serome Atlas

GON7

EKC/KEOPS complex subunit GON7

Also known as: C14orf142, GON7_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9BXV9
Gene
GON7
Ensembl
ENSG00000170270
Chromosome
14
Canonical length
100 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli rim

OverviewNCBI Gene

Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

100 residues, UniProt reviewed canonical sequence.

>Q9BXV9|GON7
     1  MELLGEYVGQ EGKPQKLRVS CEAPGDGDPF QGLLSGVAQM KDMVTELFDP LVQGEVQHRV
    61  AAAPDEDLDG DDEDDAEDEN NIDNRTNFDG PSAKRPKTPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GON7 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)
0.55
Highest tissue expression
37 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 37 nTPM
  • fallopian tube: 33 nTPM
  • epididymis: 22 nTPM
  • kidney: 17 nTPM
  • heart muscle: 14 nTPM
  • skeletal muscle: 13 nTPM

Single-cell type

  • early spermatids: 88 nCPM
  • late primary spermatocytes: 40 nCPM
  • ependymal cells: 19 nCPM
  • tuft cells: 12 nCPM
  • other brain neurons: 9.4 nCPM
  • choroid plexus epithelial cells: 9.1 nCPM

Immune cell

  • basophil: 6.3 nTPM
  • intermediate monocyte: 1.7 nTPM
  • myeloid DC: 1.5 nTPM
  • classical monocyte: 0.9 nTPM
  • neutrophil: 0.9 nTPM
  • gdT-cell: 0.8 nTPM

Brain region

  • choroid plexus: 20 nTPM
  • medulla oblongata: 7.6 nTPM
  • hypothalamus: 7.3 nTPM
  • pons: 6.1 nTPM
  • thalamus: 6 nTPM
  • midbrain: 5.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GON7.

Disease | AllUniProt

Conditions GON7 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 8 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)
1.82
gnomAD pLI
0.01
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • EKC/KEOPS complex subunit GON7, metazoa
  • Domain of unknown function (DUF4611)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GON7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GON7 as an antibody target. Whether an autoantibody or antibody against GON7 could matter depends on whether native GON7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GON7 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 GON7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GON7. 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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