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, NM_006883.2
Exon/intron information NM_000451.3 exon/intron table, NM_006883.2 exon/intron table
Associated with diseases ISS, LMD, LWD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gudrun Rappold and Ralph Roeth
Total number of public variants reported 1472
Unique public DNA variants reported 1186
Individuals with public variants 1746
Hidden variants 0
Notes This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes (Xp22.33 and Yp11.32).
Diagnostic testing: Molecular diagnostics for the SHOX gene is carried out by Esoterix/Labcorp for North America and Bioscientia for Europe.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 06, 2009
Date last updated November 28, 2017
Version SHOX:171128

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000451.3, NM_006883.2.
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
Homepage URL http://www.LOVD.nl/SHOX
External URL SHOX Group Heidelberg
Lilly
Bioscientia
Esoterix
Orphanet
HapMap
BKMF
Dyschondrosteosis and Madelung Wrist Deformity
HMGD
1000 Genomes Browser
gnomAD
Ensembl Genome Browser
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
HGNC 10853
Entrez Gene 6473
PubMed articles SHOX
OMIM - Gene 312865
OMIM - Diseases ISS (stature, short, idiopathic familial (ISS))
LMD (dysplasia, mesomelic, Langer (LMD))
LWD (dyschondrosteosis, Leri-Weill (LWD))
HGMD SHOX
GeneCards SHOX
GeneTests SHOX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025225 X transcript variant 2 NM_006883.2 NP_006874.1 1472
00025226 X transcript variant 1 NM_000451.3 NP_000442.1 1189


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