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Gene: SHOX (short stature homeobox) Homo sapiens
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Symbol: SHOX
Name: short stature homeobox
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GCFX; growth control factor, X-linked; PHOG; pseudoautosomal homeobox-containing osteogenic protein; short stature homeobox protein; short stature homeobox-containing protein; SHOXY; SS
Orthologs:
Rattus norvegicus (Norway rat) : LOC691272 (similar to reproductive homeobox on X chromosome, 11)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Shox (short stature homeobox)
Pan paniscus (bonobo/pygmy chimpanzee) : SHOX (short stature homeobox)
Canis lupus familiaris (dog) : SHOX (short stature homeobox)
Sus scrofa (pig) : SHOX (short stature homeobox)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X624,344 - 659,411 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38Y624,344 - 659,411 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X585,079 - 620,146 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y535,079 - 570,146 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X505,079 - 540,146 (+)NCBINCBI36hg18NCBI36
Build 36Y505,079 - 540,146 (+)NCBINCBI36hg18NCBI36
Build 34Y555,078 - 590,146NCBI
CeleraX471,885 - 506,319 (-)NCBI
Cytogenetic MapXp22.33 and Yp11.2NCBI
CHM1_1X568,610 - 603,454 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
 
More on SHOX
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1349053
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.