Seroatlas · Human Serome Atlas

SHOX2

Short stature homeobox protein 2

Also known as: OG12, OG12X, SHOT, SHOX2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O60902
Gene
SHOX2
Ensembl
ENSG00000168779
Chromosome
3
Canonical length
331 aa
Protein class
Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

331 residues, UniProt reviewed canonical sequence.

>O60902|SHOX2
     1  MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP TGCTEAGRDD RSSPAVRAAG
    61  GGGGGGGGGG GGGGGGGVGG GGAGGGAGGG RSPVRELDMG AAERSREPGS PRLTEVSPEL
   121  KDRKEDAKGM EDEGQTKIKQ RRSRTNFTLE QLNELERLFD ETHYPDAFMR EELSQRLGLS
   181  EARVQVWFQN RRAKCRKQEN QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV
   241  TPLSFQVQAQ LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV
   301  AAAAAAKTTS KNSSIADLRL KAKKHAAALG L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHOX2 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)
0.65
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 11 nTPM
  • adipose tissue: 5.4 nTPM
  • breast: 3.9 nTPM
  • heart muscle: 2.5 nTPM
  • cervix: 2.2 nTPM
  • testis: 2.1 nTPM

Single-cell type

  • early spermatids: 129 nCPM
  • late spermatids: 22 nCPM
  • fibroblasts: 11 nCPM
  • late primary spermatocytes: 11 nCPM
  • fibro-adipogenic progenitors: 8.6 nCPM
  • thymic myoid cells: 8.2 nCPM

Immune cell

  • neutrophil: 0.4 nTPM
  • non-classical monocyte: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • thalamus: 45 nTPM
  • midbrain: 23 nTPM
  • medulla oblongata: 19 nTPM
  • amygdala: 16 nTPM
  • pons: 13 nTPM
  • hypothalamus: 10 nTPM

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
0.02
gnomAD missense Z
-0.1
DepMap mean gene effect
0.01
DepMap dependency class
selective

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 SHOX2 as an antibody target. Whether an autoantibody or antibody against SHOX2 could matter depends on whether native SHOX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHOX2 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 SHOX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SHOX2. 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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