SHOX Gene

Aliases
for SHOX gene

(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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Previous GC identifers: GC0XP000427 GC0YU900006 GC0XP000527 GC0YP000555

Summaries
for SHOX gene

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

SwitchGear Promoter luciferase reporter plasmid: SHOX promoter sequence

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

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


GeneLoc information about chromosome X         GeneLoc Exon Structure

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

Proteins
for SHOX gene

(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, antibodies-online, and/or GeneTex,
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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Explore the universe of human proteins at neXtProt for SHOX: NX_O15266

Explore proteomics data for SHOX at MOPED

Post-translational modifications: 

SHOX Human Recombinant Protein Products:

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	OriGene Purified Protein for SHOX OriGene Protein Over-expression Lysate for SHOX OriGene Custom MassSpec OriGene Custom Protein Services for SHOX
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	Novus Biologicals SHOX Lysate
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	Cloud-Clone Corp. Proteins for SHOX
	Search eBioscience for Proteins for SHOX
	Search GeneTex for Proteins for SHOX
	antibodies-online proteins for SHOX
	antibodies-online peptides for SHOX

SHOX Antibody Products:

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	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:

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	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)

Domains /
Families
for SHOX gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: O15266

Find genes that share domains with SHOX           About GenesLikeMe

Function
for SHOX gene

(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, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

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

Localization
for SHOX gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	3

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

Pathways & Interactions
for SHOX gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 3 biological process terms:    About this table

Drugs & Compounds
for SHOX gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for SHOX gene

(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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Expression
for SHOX gene

(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 GenesLikeMe, 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

Head Mesenchyme (Muscoskeletal System)
Head Mesenchyme
Limb (Muscoskeletal System)

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

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

Orthologs
for SHOX gene

(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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Paralogs
for SHOX gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Genomic Variants
for SHOX gene

(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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4 SNPs for SHOX    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
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

Disorders / Diseases
for SHOX gene

(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, Sets of similar genes according to GenesLikeMe)
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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

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

Publications
for SHOX gene

(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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1. 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)
2. 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)
3. 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)
4. 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)
5. 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)
6. 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)
7. SHOX point mutations in dyschondrosteosis. (PubMed id 11403039)^{1, 2, 9} Huber C.... Cormier-Daire V. (J. Med. Genet. 2001)
8. 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)
9. 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)
10. SHOX intragenic microsatellite analysis in patients with short stature. (PubMed id 11874178)^{1, 9} Ezquieta B....Gracia R. (amp 2002)

External Searches for SHOX gene

Genome Databases showing SHOX gene

Other Databases showing SHOX gene

Specialized Databases showing SHOX gene

Products
for SHOX gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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