Details for: SHOX

Gene ID: 6473

Symbol: SHOX

Ensembl ID: ENSG00000185960

Description: SHOX homeobox

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.5993
    Cell Significance Index: 38.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3275
    Cell Significance Index: 28.7600
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.7371
    Cell Significance Index: 6.6900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.7133
    Cell Significance Index: 14.9300
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 0.4923
    Cell Significance Index: 2.8900
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.4760
    Cell Significance Index: 6.0200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4170
    Cell Significance Index: 25.5700
  • Cell Name: obsolete animal cell (CL0000548)
    Fold Change: 0.3649
    Cell Significance Index: 3.7000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3351
    Cell Significance Index: 20.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3000
    Cell Significance Index: 57.0900
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.2525
    Cell Significance Index: 2.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2475
    Cell Significance Index: 11.2200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2316
    Cell Significance Index: 3.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2089
    Cell Significance Index: 4.4500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1976
    Cell Significance Index: 4.9300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.1788
    Cell Significance Index: 2.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1777
    Cell Significance Index: 5.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1617
    Cell Significance Index: 17.5900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1594
    Cell Significance Index: 1.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1556
    Cell Significance Index: 4.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1460
    Cell Significance Index: 66.2700
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.1449
    Cell Significance Index: 0.7900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1437
    Cell Significance Index: 2.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1266
    Cell Significance Index: 2.1700
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.1092
    Cell Significance Index: 1.1200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1051
    Cell Significance Index: 1.5100
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0945
    Cell Significance Index: 0.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0743
    Cell Significance Index: 5.1400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0738
    Cell Significance Index: 1.0500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0658
    Cell Significance Index: 6.5100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0526
    Cell Significance Index: 47.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0467
    Cell Significance Index: 7.5900
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.0344
    Cell Significance Index: 0.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0248
    Cell Significance Index: 3.6000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0198
    Cell Significance Index: 2.0600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0169
    Cell Significance Index: 0.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0099
    Cell Significance Index: 1.9800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0097
    Cell Significance Index: 0.3400
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.0077
    Cell Significance Index: 0.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0072
    Cell Significance Index: 4.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0072
    Cell Significance Index: 0.2300
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.0067
    Cell Significance Index: 0.0600
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: 0.0065
    Cell Significance Index: 0.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0055
    Cell Significance Index: 1.0900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0046
    Cell Significance Index: 0.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0045
    Cell Significance Index: 8.4000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0038
    Cell Significance Index: 1.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0018
    Cell Significance Index: 2.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0014
    Cell Significance Index: 2.1700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0014
    Cell Significance Index: 0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0012
    Cell Significance Index: 2.3000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0009
    Cell Significance Index: 0.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0011
    Cell Significance Index: -0.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0015
    Cell Significance Index: -0.8200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0017
    Cell Significance Index: -0.0700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0024
    Cell Significance Index: -0.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0033
    Cell Significance Index: -0.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0045
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0045
    Cell Significance Index: -0.7700
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: -0.0059
    Cell Significance Index: -0.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0070
    Cell Significance Index: -0.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0071
    Cell Significance Index: -0.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0084
    Cell Significance Index: -1.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0089
    Cell Significance Index: -1.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0089
    Cell Significance Index: -0.2500
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.0091
    Cell Significance Index: -0.0900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0093
    Cell Significance Index: -0.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0152
    Cell Significance Index: -1.8700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0175
    Cell Significance Index: -0.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0181
    Cell Significance Index: -0.8000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0184
    Cell Significance Index: -1.4100
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0195
    Cell Significance Index: -0.2500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0217
    Cell Significance Index: -0.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0224
    Cell Significance Index: -0.8500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0226
    Cell Significance Index: -0.7400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0229
    Cell Significance Index: -0.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0255
    Cell Significance Index: -0.8900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0255
    Cell Significance Index: -0.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0257
    Cell Significance Index: -1.4400
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.0275
    Cell Significance Index: -0.3100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0285
    Cell Significance Index: -0.4800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0287
    Cell Significance Index: -0.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0287
    Cell Significance Index: -0.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0300
    Cell Significance Index: -0.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0303
    Cell Significance Index: -1.5900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0309
    Cell Significance Index: -1.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0310
    Cell Significance Index: -1.4600
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0328
    Cell Significance Index: -0.4900
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.0330
    Cell Significance Index: -0.2000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0334
    Cell Significance Index: -0.6600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0339
    Cell Significance Index: -0.5000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0349
    Cell Significance Index: -0.7100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0354
    Cell Significance Index: -0.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0357
    Cell Significance Index: -0.8900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0361
    Cell Significance Index: -0.7800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0365
    Cell Significance Index: -0.4000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0381
    Cell Significance Index: -0.9300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0384
    Cell Significance Index: -0.5600
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0436
    Cell Significance Index: -0.4600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0440
    Cell Significance Index: -0.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcriptional Regulation:** SHOX acts as a transcriptional activator, binding to specific DNA sequences to recruit RNA polymerase II and initiate gene expression. Its ability to regulate transcription is mediated through its DNA-binding domain, which recognizes and interacts with specific DNA sequences. 2. **Skeletal System Development:** SHOX is essential for the proper development of the skeletal system, particularly in the growth and differentiation of chondrocytes and osteoblasts. Mutations in SHOX have been associated with short stature, dwarfism, and bone deformities. 3. **Immunological Functions:** SHOX is expressed in various immune cells, including T cells and plasma cells, suggesting its involvement in immune regulation and response. SHOX has been shown to modulate the expression of genes involved in immune cell development and function. 4. **Cell Proliferation and Differentiation:** SHOX regulates cell proliferation and differentiation in various tissues, including the cornea, ciliary muscle, and intestinal crypts. Its expression is required for the proper development and function of these tissues. **Pathways and Functions:** 1. **Chromatin Remodeling:** SHOX interacts with chromatin remodeling complexes to regulate gene expression by modifying chromatin structure and accessibility. 2. **DNA-Binding Transcription Factor Activity:** SHOX recognizes and binds to specific DNA sequences, recruiting transcription factors and co-activators to regulate gene expression. 3. **Positive Regulation of Transcription by RNA Polymerase II:** SHOX interacts with RNA polymerase II to enhance transcriptional activity, promoting the expression of target genes. 4. **Regulation of Transcription by RNA Polymerase II:** SHOX modulates the activity of RNA polymerase II, influencing the expression of genes involved in cell proliferation, differentiation, and survival. **Clinical Significance:** 1. **Short Stature and Dwarfism:** Mutations in SHOX are associated with short stature, dwarfism, and bone deformities, highlighting the gene's critical role in skeletal development. 2. **Immune-Related Disorders:** SHOX mutations have been linked to immune-related disorders, including autoimmune diseases and immunodeficiency syndromes, underscoring the gene's importance in immune regulation. 3. **Cancer and Tissue Development:** SHOX expression has been observed in various cancers, suggesting its role in tumorigenesis and cancer progression. Its expression is also required for the proper development of certain tissues, such as the cornea and intestinal crypts. 4. **Therapeutic Potential:** Understanding the mechanisms by which SHOX regulates gene expression may provide insights into the development of novel therapeutic strategies for diseases associated with SHOX dysfunction. In conclusion, SHOX is a multifunctional gene that plays a critical role in regulating various cellular processes, including skeletal development, immune function, and cell proliferation. Its clinical significance extends to short stature and dwarfism, immune-related disorders, and cancer. Further research is needed to elucidate the mechanisms by which SHOX regulates gene expression and to explore its therapeutic potential.

Genular Protein ID: 2907490740

Symbol: SHOX_HUMAN

Name: Short stature homeobox protein

UniProtKB Accession Codes:

O15266 O00412 O00413 O15267

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 8 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 2 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9140395

Title: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

PubMed ID: 9140395

DOI: 10.1038/ng0597-54

PubMed ID: 9259282

Title: PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

PubMed ID: 9259282

DOI: 10.1093/hmg/6.8.1341

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 11030412

Title: Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

PubMed ID: 11030412

DOI: 10.1007/s004390000352

PubMed ID: 11891678

Title: Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).

PubMed ID: 11891678

DOI: 10.1002/ajmg.10228

PubMed ID: 11403039

Title: SHOX point mutations in dyschondrosteosis.

PubMed ID: 11403039

DOI: 10.1136/jmg.38.5.323

PubMed ID: 11889214

Title: SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

PubMed ID: 11889214

DOI: 10.1210/jcem.87.3.8348

Sequence Information:

  • Length: 292
  • Mass: 32236
  • Checksum: 0F2A61A3051CB360
  • Sequence:
    • MEELTAFVSK SFDQKSKDGN GGGGGGGGKK DSITYREVLE SGLARSRELG TSDSSLQDIT 
EGGGHCPVHL FKDHVDNDKE KLKEFGTARV AEGIYECKEK REDVKSEDED GQTKLKQRRS 
RTNFTLEQLN ELERLFDETH YPDAFMREEL SQRLGLSEAR VQVWFQNRRA KCRKQENQMH 
KGVILGTANH LDACRVAPYV NMGALRMPFQ QVQAQLQLEG VAHAHPHLHP HLAAHAPYLM 
FPPPPFGLPI ASLAESASAA AVVAAAAKSN SKNSSIADLR LKARKHAEAL GL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.