Aliases for SHOX Gene
Aliases for SHOX Gene
External Ids for SHOX Gene
Previous GeneCards Identifiers for SHOX Gene
- GC0XP000427
- GC0YU900006
- GC0XP000527
- GC0YP000555
- GC0XP000585
Summaries 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 Leri-Weill Dyschondrosteosis and Langer Mesomelic Dysplasia. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SHOX2.
UniProtKB/Swiss-Prot for SHOX Gene
-
Controls fundamental aspects of growth and development.
Additional gene information for SHOX Gene
- Monarch Initiative
- Search for SHOX at DataMed
- Search for SHOX at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHOX Gene
Genomics for SHOX Gene
GeneHancer (GH) Regulatory Elements for SHOX Gene
- Top Transcription factor binding sites by QIAGEN in the SHOX gene promoter:
Regulatory Element Products
Genomic Locations for SHOX Gene
- chrX:624,344-659,411
- (GRCh38/hg38)
- Size:
- 35,068 bases
- Orientation:
- Plus strand
- chrX:585,079-620,146
- (GRCh37/hg19)
Genomic View for SHOX Gene
- Cytogenetic band:
-
- Xp22.33 by Ensembl
- Xp22.33 and Yp11.2 by Entrez Gene
- Xp22.33 and Yp11.32 by HGNC


RefSeq DNA sequence for SHOX Gene
Proteins for SHOX Gene
-
Protein details for SHOX Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15266-SHOX_HUMAN
- Recommended name:
- Short stature homeobox protein
- Protein Accession:
- O15266
- O00412
- O00413
- O15267
Protein attributes for SHOX Gene
- Size:
- 292 amino acids
- Molecular mass:
- 32236 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Protein Expression for SHOX Gene
Post-translational modifications for SHOX Gene
Other Protein References for SHOX Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- Novus Biologicals Antibodies for SHOX
-
Abcam antibodies for SHOX
- Invitrogen Antibodies for SHOX
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Protein Products
-
OriGene Purified Proteins for SHOX
- Search Origene for MassSpec and Protein Over-expression Lysates for SHOX
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- antibodies-online: Search results for 2 available SHOX Proteins ranked by validation data
- Compare Top SHOX Proteins
-
Quality Products:
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Assay Products
- antibodies-online: Search results for available SHOX related products ranked by validation data
No data available for DME Specific Peptides for SHOX Gene
Domains & Families for SHOX Gene
Gene Families for SHOX Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SHOX Gene
Suggested Antigen Peptide Sequences for SHOX Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O15266- Family:
-
- Belongs to the paired homeobox family. Bicoid subfamily.
Function for SHOX Gene
Molecular function for SHOX Gene
- GENATLAS Biochemistry:
- 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
- UniProtKB/Swiss-Prot Function:
- Controls fundamental aspects of growth and development.
- UniProtKB/Swiss-Prot Induction:
- By retinoic acid and phorbol-12-myristate 13-acetate (PMA).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IMP | 11751690 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA binding transcription factor activity | TAS | 9259282 |
GO:0005515 | protein binding | IPI | 21262861 |
GO:0043565 | sequence-specific DNA binding | IMP | 11751690 |
Phenotypes for SHOX Gene
- GenomeRNAi human phenotypes for SHOX:
Animal Model Products
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-
-
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-
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miRNA for SHOX Gene
- miRTarBase miRNAs that target SHOX
-
- hsa-mir-4753-3p (MIRT618608)
- hsa-mir-6873-3p (MIRT618609)
- hsa-mir-130b-5p (MIRT618610)
- hsa-mir-6817-3p (MIRT618611)
- hsa-mir-7110-3p (MIRT618612)
- hsa-mir-6769b-3p (MIRT618613)
- hsa-mir-4723-3p (MIRT618614)
- hsa-mir-3183 (MIRT618615)
- hsa-mir-6877-3p (MIRT618616)
- hsa-mir-6819-3p (MIRT618617)
- hsa-mir-7109-3p (MIRT618618)
- hsa-mir-665 (MIRT666360)
- hsa-mir-6771-5p (MIRT666361)
- hsa-mir-7977 (MIRT666362)
- hsa-mir-7160-5p (MIRT666363)
- hsa-mir-4722-5p (MIRT666364)
- hsa-mir-6884-5p (MIRT666365)
- hsa-mir-485-5p (MIRT666366)
- hsa-mir-1827 (MIRT666367)
- hsa-mir-4649-3p (MIRT666368)
- hsa-mir-6746-5p (MIRT666369)
- hsa-mir-5690 (MIRT666370)
- hsa-mir-5588-3p (MIRT666371)
- hsa-mir-4478 (MIRT666372)
- hsa-mir-4419b (MIRT666373)
- hsa-mir-3929 (MIRT666374)
- hsa-mir-940 (MIRT666375)
- hsa-mir-6893-5p (MIRT666376)
- hsa-mir-6808-5p (MIRT666377)
miRNA Products
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- Overview of 30 available SHOX gene related products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SHOX
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for SHOX
-
ViGene Biosciences adenoviral particle packaged cDNA for SHOX gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SHOX gene
-
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SHOX Gene
Localization for SHOX Gene
Subcellular locations from UniProtKB/Swiss-Prot for SHOX Gene
- Nucleus.
- Nucleoplasm (4)
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
Pathways & Interactions for SHOX Gene
Interacting Proteins for SHOX Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS | 9590292 |
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 9259282 |
GO:0007275 | multicellular organism development | IEA | -- |
No data available for Pathways by source for SHOX Gene
Transcripts for SHOX Gene
mRNA/cDNA for SHOX Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (8) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SHOX
- genomics-online: gRNA clones - Search results for 30 available SHOX gene related products
- Overview of 30 available SHOX gene related products
- Applied Biological Materials CRISPR for SHOX
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
- Search ViGene Biosciences for SHOX
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SHOX
- Browse OriGene Inhibitory RNA Products For SHOX
- genomics-online: shRNA clones - Search results for 30 available SHOX gene related products
- Overview of 30 available SHOX gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SHOX gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SHOX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SHOX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SHOX
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SHOX Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Head Mesenchyme (Muscoskeletal System)
-
Limb (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for SHOX Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SHOX Gene
NURSA nuclear receptor signaling pathways regulating expression of SHOX Gene:
SHOXSOURCE GeneReport for Unigene cluster for SHOX Gene:
Hs.105932mRNA Expression by UniProt/SwissProt for SHOX Gene:
O15266-SHOX_HUMANEvidence on tissue expression from TISSUES for SHOX Gene
- Muscle(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SHOX Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- respiratory
- skeletal muscle
- skeleton
- chin
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- nose
- skull
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
- pelvis
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SHOX
- genomics-online: primer clones - Search results for 30 available SHOX gene related products
- Overview of 30 available SHOX gene related products
Orthologs for SHOX Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
oppossum (Monodelphis domestica) |
Mammalia | SHOX 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SHOX 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SHOX 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SHOX 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SHOX 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SHOX 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | shox 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | shox 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG34367 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | alr-1 34 |
|
ManyToMany |
- Species where no ortholog for SHOX was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- mouse (Mus musculus)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SHOX Gene
Variants for SHOX Gene
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057518701 | pathogenic, Short stature, idiopathic, X-linked | 640,879(+) | G/A | splice_donor_variant | |
rs1060499711 | uncertain-significance, Short stature, idiopathic, X-linked | 644,560(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
rs111549748 | pathogenic, Short stature, idiopathic, X-linked | 624,528(+) | G/C | 5_prime_UTR_variant | |
rs113313554 | pathogenic, Short stature, idiopathic, X-linked | 624,523(+) | C/A/T | 5_prime_UTR_variant | |
rs137852552 | pathogenic, Short stature, idiopathic, X-linked | 641,037(+) | C/A/T | coding_sequence_variant, stop_gained, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1288e201 | CNV | deletion | 23290073 |
dgv4555e59 | CNV | duplication | 20981092 |
esv2664240 | CNV | deletion | 23128226 |
esv2676175 | CNV | deletion | 23128226 |
esv2739493 | CNV | deletion | 23290073 |
esv2739494 | CNV | deletion | 23290073 |
esv2739495 | CNV | deletion | 23290073 |
esv2739497 | CNV | deletion | 23290073 |
esv2739498 | CNV | deletion | 23290073 |
esv2739499 | CNV | deletion | 23290073 |
esv2739500 | CNV | deletion | 23290073 |
esv2739501 | CNV | deletion | 23290073 |
esv2739502 | CNV | deletion | 23290073 |
esv2739503 | CNV | deletion | 23290073 |
esv2739504 | CNV | deletion | 23290073 |
esv2739505 | CNV | deletion | 23290073 |
esv2739506 | CNV | deletion | 23290073 |
esv2739508 | CNV | deletion | 23290073 |
esv2743216 | CNV | deletion | 23290073 |
esv3558431 | CNV | deletion | 23714750 |
nsv10004 | CNV | loss | 18304495 |
nsv1140086 | CNV | duplication | 24896259 |
nsv507942 | OTHER | sequence alteration | 20534489 |
nsv9923 | CNV | loss | 18304495 |
Additional Variant Information for SHOX Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHOX Gene
Disorders for SHOX Gene

(17) MalaCards diseases for SHOX Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
leri-weill dyschondrosteosis |
|
|
langer mesomelic dysplasia |
|
|
short stature, idiopathic, x-linked |
|
|
turner syndrome |
|
|
madelung deformity |
|
UniProtKB/Swiss-Prot
SHOX_HUMAN- 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. {ECO:0000269 PubMed:11889214}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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. {ECO:0000269 PubMed:11030412, ECO:0000269 PubMed:11403039}. 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. {ECO:0000269 PubMed:9140395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SHOX
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SHOX Gene
Publications for SHOX Gene
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (PMID: 9140395) Rao E … Rappold GA (Nature genetics 1997) 2 3 4 22 58
- PHOG, a candidate gene for involvement in the short stature of Turner syndrome. (PMID: 9259282) Ellison JW … Chiong W (Human molecular genetics 1997) 2 3 4 22 58
- Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. (PMID: 19578035) Chen J … Rappold G (Journal of medical genetics 2009) 3 22 44 58
- SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. (PMID: 11889214) Ogata T … Hattori T (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 58
- Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (PMID: 11889216) Rappold GA … Ogata T (The Journal of clinical endocrinology and metabolism 2002) 3 22 44 58
Products for SHOX Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 29 available SHOX Antibodies ranked by validation data
- Compare Top SHOX Antibodies
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- Overview of 30 available SHOX gene related products
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- Overview of 30 available SHOX gene related products
Sources for SHOX Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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