The SHOX gene homepage

General information
Gene symbol SHOX
Gene name short stature homeobox
Chromosome X
Chromosomal band p22.33 and Yp11.32
Imprinted Unknown
Genomic reference NG_009385.2
Transcript reference NM_000451.3
Associated with diseases ISS, LMD, LWD
Citation reference(s) -
Curators (2) Sabine Heber and Florian Bayersdorfer
Total number of public variants reported 11
Unique public DNA variants reported 11
Individuals with public variants 0
Hidden variants -
Date created July 08, 2016
Date last updated May 07, 2024
Version SHOX:240507

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC HGNC:10853
Entrez Gene 6473
PubMed articles SHOX
OMIM - Gene 312865
OMIM - Diseases ISS (SHORT STATURE, IDIOPATHIC, X-LINKED)
LMD (LANGER MESOMELIC DYSPLASIA)
LWD (LERI-WEILL DYSCHONDROSTEOSIS)
HGMD SHOX
GeneCards SHOX
GeneTests SHOX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000021 X transcript variant 1 NM_000451.3 NP_000442.1 11


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