Seroatlas · Human Serome Atlas

GSX2

GS homeobox 2

Also known as: Gsh2, GSX2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9BZM3
Gene
GSX2
Ensembl
ENSG00000180613
Chromosome
4
Canonical length
304 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in generation of neurons; olfactory bulb development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and positive regulation of oligodendrocyte differentiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

304 residues, UniProt reviewed canonical sequence.

>Q9BZM3|GSX2
     1  MSRSFYVDSL IIKDTSRPAP SLPEPHPGPD FFIPLGMPPP LVMSVSGPGC PSRKSGAFCV
    61  CPLCVTSHLH SSRGSVGAGS GGAGAGVTGA GGSGVAGAAG ALPLLKGQFS SAPGDAQFCP
   121  RVNHAHHHHH PPQHHHHHHQ PQQPGSAAAA AAAAAAAAAA AALGHPQHHA PVCTATTYNV
   181  ADPRRFHCLT MGGSDASQVP NGKRMRTAFT STQLLELERE FSSNMYLSRL RRIEIATYLN
   241  LSEKQVKIWF QNRRVKHKKE GKGTQRNSHA GCKCVGSQVH YARSEDEDSL SPASANDDKE
   301  ISPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSX2 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)
0.67
Highest tissue expression
1.1 nTPM

Expression across tissuesHPA

Tissue

  • amygdala: 1.1 nTPM
  • basal ganglia: 0.8 nTPM
  • midbrain: 0.4 nTPM
  • cerebral cortex: 0.3 nTPM
  • hypothalamus: 0.3 nTPM
  • skin: 0.3 nTPM

Single-cell type

  • adipocytes: 0 nCPM
  • adrenal cortex cells: 0 nCPM
  • adrenal medulla cells: 0 nCPM
  • alveolar cells type 1: 0 nCPM
  • alveolar cells type 2: 0 nCPM
  • astrocytes: 0 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

  • basal ganglia: 2.5 nTPM
  • amygdala: 1.9 nTPM
  • cerebral cortex: 1.6 nTPM
  • white matter: 1 nTPM
  • pons: 0.9 nTPM
  • spinal cord: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GSX2.

Disease | AllUniProt

Conditions GSX2 is implicated in, by any mechanism.

  • Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) MIM:618646

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)
0.83
gnomAD pLI
0.26
gnomAD missense Z
0.59
DepMap mean gene effect
-0.05
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 GSX2 as an antibody target. Whether an autoantibody or antibody against GSX2 could matter depends on whether native GSX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GSX2 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 GSX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GSX2. 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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