SHOX
Short stature homeobox protein
Also known as: GCFX, PHOG, SHOX_HUMAN, SHOXY, SS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15266
- Gene
- SHOX
- Ensembl
- ENSG00000185960
- Chromosome
- X
- Canonical length
- 292 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
292 residues, UniProt reviewed canonical sequence.
>O15266|SHOX
1 MEELTAFVSK SFDQKSKDGN GGGGGGGGKK DSITYREVLE SGLARSRELG TSDSSLQDIT
61 EGGGHCPVHL FKDHVDNDKE KLKEFGTARV AEGIYECKEK REDVKSEDED GQTKLKQRRS
121 RTNFTLEQLN ELERLFDETH YPDAFMREEL SQRLGLSEAR VQVWFQNRRA KCRKQENQMH
181 KGVILGTANH LDACRVAPYV NMGALRMPFQ QVQAQLQLEG VAHAHPHLHP HLAAHAPYLM
241 FPPPPFGLPI ASLAESASAA AVVAAAAKSN SKNSSIADLR LKARKHAEAL GLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SHOX 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)
- 0.62
- Highest tissue expression
- 1 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 1 nTPM
- bone marrow: 0.8 nTPM
- adipose tissue: 0.6 nTPM
- spleen: 0.6 nTPM
- duodenum: 0.5 nTPM
- salivary gland: 0.5 nTPM
Single-cell type
- myonuclei: 11 nCPM
- fibro-adipogenic progenitors: 5.7 nCPM
- myosatellite cells: 5 nCPM
- pericytes: 3.1 nCPM
- fibroblasts: 2.9 nCPM
- migrating cytotrophoblasts: 2.6 nCPM
Immune cell
- basophil: 5.1 nTPM
- neutrophil: 1.7 nTPM
- eosinophil: 0.9 nTPM
- NK-cell: 0.8 nTPM
- naive B-cell: 0.6 nTPM
- classical monocyte: 0.5 nTPM
Brain region
- midbrain: 22 nTPM
- pons: 20 nTPM
- thalamus: 7.3 nTPM
- cerebellum: 7.1 nTPM
- medulla oblongata: 6.8 nTPM
- white matter: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SHOX.
Disease | AllUniProt
Conditions SHOX is implicated in, by any mechanism.
- Leri-Weill dyschondrosteosis (LWD) MIM:127300
- Langer mesomelic dysplasia (LMD) MIM:249700
- Short stature, idiopathic, X-linked (ISS) MIM:300582
Disease | GeneticClinVar
114 pathogenic / likely-pathogenic of 539 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Leri-Weill dyschondrosteosis
- SHOX-related short stature
- SHOX-related disorder
- Langer mesomelic dysplasia syndrome
- Short stature
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)
- 0.52
- gnomAD pLI
- 0.67
- gnomAD missense Z
- -0.54
OntologyGO
Biological processes
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- skeletal system development
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SHOX as an antibody target. Whether an autoantibody or antibody against SHOX could matter depends on whether native SHOX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SHOX 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 SHOX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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