Gene

shox

ID
ZDB-GENE-051030-21
Name
short stature homeobox
Symbol
shox Nomenclature History
Previous Names
  • si:ch211-134k13.1 (1)
  • zgc:123182 (1)
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in bone mineralization; cell population proliferation; and pectoral fin development. Predicted to localize to nucleus. Is expressed in several structures, including digestive system; nervous system; pericardial region; pharyngeal arch; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Leri-Weill dyschondrosteosis and SHOX-related short stature. Orthologous to human SHOX (short stature homeobox).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With shox Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Leri-Weill dyschondrosteosis Alliance Leri-Weill dyschondrosteosis 127300
SHOX-related short stature Alliance Short stature, idiopathic familial 300582
Langer mesomelic dysplasia 249700
Associated With shox Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR000047 Helix-turn-helix motif
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR003654 OAR domain
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Helix-turn-helix motif Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily OAR domain
UniProtKB:Q3B7G6 258
UniProtKB:B0S5T0 285
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations