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SHOX Gene

protein-coding GIFtS: 55
GCID: GC0XP000585

Short Stature Homeobox

See SHOX-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Short Stature Homeobox¹ ²		SS²
Pseudoautosomal Homeobox-Containing Osteogenic Protein² ³		Growth Control Factor, X-Linked²
PHOG² ³		Short Stature Homeobox Protein²
GCFX²		Short Stature Homeobox-Containing Protein³
SHOXY²

External Ids:	HGNC: 10853¹	Entrez Gene: 6473²	Ensembl: ENSG00000185960⁷	OMIM: 312865,400020⁵	UniProtKB: O15266³

Export aliases for SHOX gene to outside databases

Previous GC identifers: GC0XP000427 GC0YU900006 GC0XP000527 GC0YP000555

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SHOX 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)

GeneCards Summary for SHOX Gene:

SHOX (short stature homeobox) is a protein-coding gene. Diseases associated with SHOX include shox-related haploinsufficiency disorders, and langer mesomelic dwarfism. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266

Function: Controls fundamental aspects of growth and development

Gene Wiki entry for SHOX (Short stature homeobox gene) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000023.10 NT_187358.1 NC_000024.9 NT_167201.2 NC_018934.2

Regulatory elements:

Regulatory transcription factor binding sites in the SHOX gene promoter:
PPAR-alpha SRY
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SHOX promoter sequence

Search Chromatin IP Primers for SHOX

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHOX

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.33;Yp11.3 Ensembl cytogenetic band: Xp22.33 HGNC cytogenetic band: Xp22.33 and Yp11.32

SHOX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHOX gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP000585: view genomic region (about GC identifiers)

Start:	585,079 bp from pter	End:	620,146 bp from pter
Size:	35,068 bases	Orientation:	plus strand

1 alternative location:

ChrY+ 535,079-570,146

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266 (See protein sequence)

Recommended Name: Short stature homeobox protein

Size: 292 amino acids; 32236 Da

Miscellaneous: The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y

chromosomes

Secondary accessions: O00412 O00413 O15267

Alternative splicing: 2 isoforms: O15266-1 O15266-2

Explore the universe of human proteins at neXtProt for SHOX: NX_O15266

Explore proteomics data for SHOX at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See SHOX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000442.1 NP_006874.1

ENSEMBL proteins:

ENSP00000452016 ENSP00000370987 ENSP00000335505 ENSP00000370990

SHOX Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for SHOX OriGene Protein Over-expression Lysate for SHOX OriGene Custom MassSpec OriGene Custom Protein Services for SHOX
	GenScript Custom Purified and Recombinant Proteins Services for SHOX
	Novus Biologicals SHOX Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for SHOX
	Search eBioscience for Proteins for SHOX
	antibodies-online proteins for SHOX
	antibodies-online peptides for SHOX

SHOX Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for SHOX
	Novus Biologicals SHOX Antibody
	Abcam antibodies for SHOX
	Cloud-Clone Corp. Antibodies for SHOX
	Search ThermoFisher Antibodies for SHOX
	antibodies-online antibodies for SHOX (10 products)

SHOX Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for SHOX
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SHOX
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for SHOX Cloud-Clone Corp. CLIAs for SHOX
	Search eBioscience for ELISAs for SHOX
	antibodies-online kits for SHOX (2 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PAR1: Pseudoautosomal regions / PAR1

PRD: Homeoboxes / PRD class

5 InterPro protein domains:

IPR003654 OAR_dom

IPR000047 HTH_motif

IPR017970 Homeobox_CS

IPR001356 Homeobox_dom

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O15266

ProtoNet protein and cluster: O15266

2 Blocks protein domains:

IPB000047 Lambda and other repressor helix-turn-helix signature

IPB003654 Paired-like homeodomain protein

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266

Similarity: Belongs to the paired homeobox family. Bicoid subfamily

Similarity: Contains 1 homeobox DNA-binding domain

Find genes that share domains with SHOX About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SHOX_HUMAN, O15266

Function: Controls fundamental aspects of growth and development

Induction: By retinoic acid and phorbol-12-myristate 13-acetate (PMA)

Genatlas biochemistry entry for SHOX:

short stature homeo box-containing gene,with two alternatively spliced forms SHOXa widely expressed,and SHOXb

predominantly found in bone marrow,fibroblast,homolog to murine OG-12a,OG-12b

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0043565	sequence-specific DNA binding	--	--

Find genes that share ontologies with SHOX About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for SHOX:

Decreased TP53 protein express

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for SHOX

miRNA Products:		Block miRNA regulation of human, mouse, rat SHOX using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SHOX (see all 15):
		hsa-miR-92a hsa-miR-137 hsa-miR-196a* hsa-miR-374b hsa-miR-25 hsa-miR-367 hsa-miR-16-1* hsa-miR-374a

		SwitchGear 3'UTR luciferase reporter plasmid: SHOX 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SHOX
		Predesigned siRNA for gene silencing in human, mouse, rat SHOX

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SHOX

Clone Products:		OriGene clones in human, mouse for SHOX (see all 9) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SHOX (NM_000451)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SHOX
		Browse ESI BIO Cell Lines and PureStem Progenitors for SHOX

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SHOX_HUMAN, O15266: Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	3

About this image

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

Find genes that share ontologies with SHOX About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Pathway & Disease-focused RT² Profiler PCR Array including SHOX:

Homeobox (HOX) Genes in human mouse rat

Interactions:

GeneGlobe Interaction Network for SHOX

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

Selected Interacting proteins for SHOX (O15266^{1, 3} ENSP00000370990⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SOX5	P35711¹^,³, ENSP00000308927⁴	EBI-3505698,EBI-3505701 I2D: score=1 STRING: ENSP00000308927
SOX6	P35712¹^,³	EBI-3505698,EBI-3505706 I2D: score=1
CSNK2A1	P68400³, ENSP00000217244⁴	I2D: score=1 STRING: ENSP00000217244
RAB14	ENSP00000362946⁴	STRING: ENSP00000362946
PAX3	ENSP00000375921⁴	STRING: ENSP00000375921

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	9590292
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	9259282

Find genes that share ontologies with SHOX About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SHOX

2 Novoseek inferred chemical compound relationships for SHOX gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
steroid	0	2	12153748 (1), 11260213 (1)
estrogen	0	7	19169482 (3), 12153748 (3)

Find genes that share compounds with SHOX About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SHOX gene (2 alternative transcripts):

NM_000451.3 NM_006883.2

Unigene Cluster for SHOX:

Short stature homeobox

Hs.105932 [show with all ESTs]

Unigene Representative Sequence: U89331

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000554971 ENST00000381575 ENST00000334060(uc004cpi.3) ENST00000381578(uc004cph.1)

miRNA Products:		Block miRNA regulation of human, mouse, rat SHOX using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SHOX (see all 15):
		hsa-miR-92a hsa-miR-137 hsa-miR-196a* hsa-miR-374b hsa-miR-25 hsa-miR-367 hsa-miR-16-1* hsa-miR-374a

		SwitchGear 3'UTR luciferase reporter plasmid: SHOX 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SHOX
		Predesigned siRNA for gene silencing in human, mouse, rat SHOX

Clone Products:		OriGene clones in human, mouse for SHOX (see all 9) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SHOX (NM_000451)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SHOX
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat SHOX
		QuantiTect SYBR Green Assays in human, mouse, rat SHOX
		QuantiFast Probe-based Assays in human, mouse, rat SHOX

Additional mRNA sequence:

U89331.1 Y11535.1 Y11536.1

4 DOTS entries:

DT.120651921 DT.308671 DT.100648898 DT.121312346

8 AceView cDNA sequences:

Y11536 Y11535 BV184529 NM_006883 AW291358 NM_000451 U89331 BF514224

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SHOX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AACCACTGCC

About this image

SHOX expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Head Mesenchyme (Muscoskeletal System)
Head Mesenchyme

Limb (Muscoskeletal System)

SHOX Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SHOX Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.105932

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266

Tissue specificity: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast

and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not

expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells

Pathway & Disease-focused RT² Profiler PCR Array including SHOX:

Homeobox (HOX) Genes in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SHOX
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat SHOX
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		QuantiFast Probe-based Assays in human, mouse, rat SHOX

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for SHOX gene from Selected species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
dog (Canis familiaris)	Mammalia	SHOX¹	short stature homeobox	90.26(n) 95.53(a)		491706 NM_001025622.1 NP_001020793.1
chicken (Gallus gallus)	Aves	SHOX¹	short stature homeobox	84.77(n) 93.13(a)		418669 NM_001079724.1 NP_001073192.1
lizard (Anolis carolinensis)	Reptilia	SHOX⁶	short stature homeobox	85(a)	1 ↔ 1	3(112627255-112658194)
tropical clawed frog (Xenopus tropicalis)	Amphibia	shox¹	short stature homeobox	75.09(n) 88.24(a)		100486480 XM_004911817.1 XP_004911874.1
zebrafish (Danio rerio)	Actinopterygii	shox¹	short stature homeobox	75.85(n) 87.28(a)		664748 NM_001126411.1 NP_001119883.1
fruit fly (Drosophila melanogaster)	Insecta	CG34367⁶	--	32(a)	1 → many	2L(10347822-10353905)
worm (Caenorhabditis elegans)	Secernentea	alr-1⁶	Protein ALR-1 (alr-1) mRNA, complete cds	18(a)	many ↔ many	X(11121944-11125615) WBGene00044330

ENSEMBL Gene Tree for SHOX (if available)
TreeFam Gene Tree for SHOX (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SHOX gene

ALX1² PHOX2B² ARX² RAX² DRGX² SHOX2² PRRX1² PHOX2A²

ALX4² ISX² RAX2² ALX3² OTP² PRRX2²

2 SIMAP similar genes for SHOX using alignment to 1 protein entry: SHOX_HUMAN:

SHOX2 RAX2

Find genes that share paralogs with SHOX About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_019415⁴	Leri-Weill dyschondrosteosis (LWD)⁴	--	see VAR_019415	2	R L	mis⁴		0	--	--	--	--
VAR_012346⁴	Leri-Weill dyschondrosteosis (LWD)⁴	--	see VAR_012346	2	R C	mis⁴		0	--	--	--	--
VAR_019416⁴	Langer mesomelic dysplasia (LMD)⁴	--	see VAR_019416	2	R W	mis⁴		0	--	--	--	--
VAR_019414⁴	Leri-Weill dyschondrosteosis (LWD)⁴	--	see VAR_019414	2	L V	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for SHOX (585079 - 620146 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for SHOX (see all 22): About this table

Variant ID	Type	Subtype	PubMed ID
esv2739500	CNV	Deletion	23290073
esv2739505	CNV	Deletion	23290073
esv2739498	CNV	Deletion	23290073
esv2739502	CNV	Deletion	23290073
esv2739503	CNV	Deletion	23290073
esv2739494	CNV	Deletion	23290073
esv2739495	CNV	Deletion	23290073
esv2739504	CNV	Deletion	23290073
esv2664240	CNV	Deletion	23128226
esv2739497	CNV	Deletion	23290073

Human Gene Mutation Database (HGMD): SHOX
Locus Specific Mutation Databases (LSDB): SHOX

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SHOX

DNA2.0 Custom Variant and Variant Library Synthesis for SHOX

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 312865,400020 OMIM disorders: --

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266

Leri-Weill dyschondrosteosis (LWD) [MIM:127300]: Dominantly inherited skeletal dysplasia characterized by

moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the

Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.

Note=The disease is caused by mutations affecting the gene represented in this entry

Langer mesomelic dysplasia (LMD) [MIM:249700]: Autosomal recessive rare skeletal dysplasia characterized

by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the

limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to

date. Note=The disease is caused by mutations affecting the gene represented in this entry

Short stature, idiopathic, X-linked (ISS) [MIM:300582]: A condition defined by a standing height more

than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared

with a well-nourished, genetically relevant population, in the absence of specific causative disorders. Note=The

disease is caused by mutations affecting the gene represented in this entry

17 diseases for SHOX:
About MalaCards

leri weill dyschondrosteosis short stature, idiopathic familial shox-related short stature mayer-rokitansky-kuster-hauser syndrome

turner syndrome hypochondroplasia short stature becker muscular dystrophy

otitis media meier-gorlin syndrome dwarfism skeletal dysplasias

klinefelter's syndrome

2 inferred disease relationships from the University of Copenhagen DISEASES database for SHOX:

Turner syndrome Hypochondroplasia

Find genes that share disorders with SHOX About GenesLikeMe

Selected Novoseek inferred disease relationships for SHOX gene (see all 19) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leri-weill dyschondrosteosis	99	63	10549307 (3), 10626546 (3), 11503314 (3), 15356038 (2) (see all 39)
madelungs deformity	97.8	26	11874178 (3), 17028440 (2), 11408757 (1), 12362035 (1) (see all 17)
langer mesomelic dysplasia	97.7	16	16807223 (1), 15173321 (1), 19724992 (1), 11186941 (1) (see all 13)
short stature	93.2	199	17182655 (7), 11874178 (6), 10634394 (5), 11889216 (5) (see all 75)
turners syndrome	91	52	11889216 (3), 19016538 (3), 10634394 (2), 9259282 (2) (see all 36)
cubitus valgus	86.8	4	17182655 (1), 11889216 (1), 10599728 (1), 11889214 (1)
skeletal dysplasia	77.8	6	18797583 (1), 11503314 (1), 18228171 (1), 17994562 (1)
growth failure	71.8	12	10634394 (3), 15356038 (2), 17922307 (2), 19724992 (1) (see all 8)
hypochondroplasia	71.8	3	12476453 (2), 11030412 (1)
dwarfism	62.4	4	9590292 (1), 18228171 (1), 11260213 (1), 15214013 (1)

GeneTests: SHOX
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Human Genome Epidemiology (HuGE) Navigator: SHOX (3 documents)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SHOX gene, integrated from 10 sources (see all 161):
(articles sorted by number of sources associating them with SHOX)

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PHOG, a candidate gene for involvement in the short stature of Turner syndrome. (PubMed id 9259282)^{1, 2, 3, 9} Ellison J.W....Chiong W. (Hum. Mol. Genet. 1997)
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (PubMed id 9140395)^{1, 2, 3, 9} Rao E.... Rappold G.A. (Nat. Genet. 1997)
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (PubMed id 11889216)^{1, 4, 9} Rappold G.A....Ogata T. (J. Clin. Endocrinol. Metab. 2002)
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. (PubMed id 11889214)^{1, 2, 9} Ogata T.... Hattori T. (J. Clin. Endocrinol. Metab. 2002)
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. (PubMed id 19578035)^{1, 4, 9} Chen J....Rappold G. (J. Med. Genet. 2009)
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. (PubMed id 11030412)^{1, 2, 9} Grigelioniene G.... Hagenaes L. (Hum. Genet. 2000)
SHOX point mutations in dyschondrosteosis. (PubMed id 11403039)^{1, 2, 9} Huber C.... Cormier-Daire V. (J. Med. Genet. 2001)
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). (PubMed id 11891678)^{1, 2, 9} Cormier-Daire V.... Munnich A. (Am. J. Med. Genet. 2001)
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. (PubMed id 20375215)^{1, 4} D'haene B....De Baere E. (J. Clin. Endocrinol. Metab. 2010)
SHOX intragenic microsatellite analysis in patients with short stature. (PubMed id 11874178)^{1, 9} Ezquieta B....Gracia R. (amp 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6473	HGNC: 10853	AceView: SHOX.1	Ensembl:ENSG00000185960	euGenes: HUgn6473
ECgene: SHOX	H-InvDB: SHOX

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SHOX	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SHOX[genesymbol]
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SHOXY[genesymbol]

Intellectual Property for SHOX gene
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Patent Information for SHOX gene:
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Otitis Media
Monosomy
SHOX-Related Haploinsufficiency Disorders
Chromosome Deletion
Skeletal dysplasia
dysplasia
LANGER MESOMELIC DYSPLASIA
SHORT STATURE
Lymphedema
developmental delay
Hypertrophy
Madelungs deformity
Turners Syndrome
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CUBITUS VALGUS
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LERI-WEILL DYSCHONDROSTEOSIS

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