Details for: SHOX2

Gene ID: 6474

Symbol: SHOX2

Ensembl ID: ENSG00000168779

Description: SHOX homeobox 2

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: peripheral nervous system neuron (CL2000032)
    Fold Change: 11.2961
    Cell Significance Index: 87.7900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.2951
    Cell Significance Index: 48.0400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.7583
    Cell Significance Index: 107.8000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.2618
    Cell Significance Index: 26.1800
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 1.1822
    Cell Significance Index: 6.7200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.8749
    Cell Significance Index: 25.0800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.6694
    Cell Significance Index: 10.6200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6468
    Cell Significance Index: 20.7200
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 0.5213
    Cell Significance Index: 3.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4810
    Cell Significance Index: 91.5500
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.3945
    Cell Significance Index: 3.5800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3753
    Cell Significance Index: 5.4700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3518
    Cell Significance Index: 4.8000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3337
    Cell Significance Index: 33.0100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2838
    Cell Significance Index: 256.2500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1972
    Cell Significance Index: 1.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1661
    Cell Significance Index: 27.0200
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: 0.1453
    Cell Significance Index: 0.8900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1452
    Cell Significance Index: 15.8000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1226
    Cell Significance Index: 1.0300
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.1026
    Cell Significance Index: 1.1300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0968
    Cell Significance Index: 4.8900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0629
    Cell Significance Index: 4.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0556
    Cell Significance Index: 3.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0556
    Cell Significance Index: 1.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0212
    Cell Significance Index: 0.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0139
    Cell Significance Index: 0.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0108
    Cell Significance Index: 6.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0028
    Cell Significance Index: 0.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0034
    Cell Significance Index: -6.3300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0048
    Cell Significance Index: -2.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0081
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0083
    Cell Significance Index: -6.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0083
    Cell Significance Index: -6.2700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0088
    Cell Significance Index: -0.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0100
    Cell Significance Index: -5.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0110
    Cell Significance Index: -6.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0114
    Cell Significance Index: -3.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0118
    Cell Significance Index: -5.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0126
    Cell Significance Index: -4.5100
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: -0.0127
    Cell Significance Index: -0.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0132
    Cell Significance Index: -0.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0154
    Cell Significance Index: -2.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0180
    Cell Significance Index: -3.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0194
    Cell Significance Index: -3.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0273
    Cell Significance Index: -3.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0299
    Cell Significance Index: -6.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0301
    Cell Significance Index: -4.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0304
    Cell Significance Index: -6.1000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0330
    Cell Significance Index: -4.0600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0353
    Cell Significance Index: -4.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0353
    Cell Significance Index: -6.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0372
    Cell Significance Index: -3.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0385
    Cell Significance Index: -4.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0489
    Cell Significance Index: -2.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0512
    Cell Significance Index: -1.4300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0517
    Cell Significance Index: -1.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0552
    Cell Significance Index: -0.6000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0566
    Cell Significance Index: -0.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0581
    Cell Significance Index: -6.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0655
    Cell Significance Index: -4.8800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0680
    Cell Significance Index: -1.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0747
    Cell Significance Index: -4.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0775
    Cell Significance Index: -2.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0779
    Cell Significance Index: -4.0600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0803
    Cell Significance Index: -5.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0877
    Cell Significance Index: -4.0900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0909
    Cell Significance Index: -1.3800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0910
    Cell Significance Index: -3.7300
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0934
    Cell Significance Index: -0.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0974
    Cell Significance Index: -5.0600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0999
    Cell Significance Index: -1.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1002
    Cell Significance Index: -7.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1158
    Cell Significance Index: -6.5000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1171
    Cell Significance Index: -3.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1260
    Cell Significance Index: -7.7500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1312
    Cell Significance Index: -4.5600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1360
    Cell Significance Index: -1.5500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1432
    Cell Significance Index: -3.5700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1552
    Cell Significance Index: -4.5700
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.1595
    Cell Significance Index: -1.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1615
    Cell Significance Index: -8.4800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1660
    Cell Significance Index: -4.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1730
    Cell Significance Index: -4.6200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1761
    Cell Significance Index: -6.1700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1776
    Cell Significance Index: -4.7600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1891
    Cell Significance Index: -6.1900
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1892
    Cell Significance Index: -2.0900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1899
    Cell Significance Index: -5.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1909
    Cell Significance Index: -5.0200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1922
    Cell Significance Index: -6.1200
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1922
    Cell Significance Index: -1.8700
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1933
    Cell Significance Index: -2.1100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2082
    Cell Significance Index: -3.6800
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.2085
    Cell Significance Index: -2.2600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2100
    Cell Significance Index: -5.3500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2142
    Cell Significance Index: -4.6900
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: -0.2221
    Cell Significance Index: -1.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2294
    Cell Significance Index: -8.4200

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**: SHOX2 is a transcription factor that regulates the expression of target genes involved in cell proliferation, differentiation, and morphogenesis. 2. **Homeobox protein**: SHOX2 is a homeobox protein, which is a type of transcription factor that regulates gene expression by binding to specific DNA sequences. 3. **Developmental processes**: SHOX2 is involved in various developmental processes, including cartilage and bone development, heart development, and nervous system development. 4. **Cellular expression**: SHOX2 is significantly expressed in various cell types, including those of the gastrointestinal tract, kidney, and nervous system. **Pathways and Functions** 1. **Cardiac pacemaker cell differentiation**: SHOX2 regulates the expression of genes involved in cardiac pacemaker cell differentiation, which is essential for the development of the heart's rhythm. 2. **Cartilage development**: SHOX2 is involved in cartilage development, particularly in the formation of endochondral bone, which is a type of bone that forms through the process of endochondral ossification. 3. **Chondrocyte development**: SHOX2 regulates the expression of genes involved in chondrocyte development, which is essential for the formation of cartilage. 4. **Nervous system development**: SHOX2 is involved in the development of the nervous system, particularly in the formation of neurons and glial cells. 5. **Muscle tissue morphogenesis**: SHOX2 regulates the expression of genes involved in muscle tissue morphogenesis, which is essential for the development of skeletal muscle. 6. **Stem cell proliferation**: SHOX2 promotes the proliferation of stem cells, which is essential for the development of various tissues and organs. **Clinical Significance** 1. **Short stature**: Mutations in the SHOX gene, which encodes SHOX2, have been associated with short stature, a condition characterized by an abnormal growth pattern. 2. **Bone disorders**: SHOX2 is involved in the regulation of bone development, and mutations in the SHOX gene have been associated with bone disorders, such as osteoporosis and osteopenia. 3. **Cardiac abnormalities**: SHOX2 is involved in cardiac development, and mutations in the SHOX gene have been associated with cardiac abnormalities, such as arrhythmias and heart failure. 4. **Neurological disorders**: SHOX2 is involved in nervous system development, and mutations in the SHOX gene have been associated with neurological disorders, such as autism and schizophrenia. 5. **Cancer**: SHOX2 has been implicated in the development of certain types of cancer, including leukemia and lymphoma. In conclusion, SHOX2 is a transcription factor gene that plays a crucial role in various developmental processes, including cartilage and bone development, heart development, and nervous system development. Mutations in the SHOX gene have been associated with various clinical disorders, including short stature, bone disorders, cardiac abnormalities, neurological disorders, and cancer. Further research is needed to fully understand the role of SHOX2 in human development and disease.

Genular Protein ID: 2363808736

Symbol: SHOX2_HUMAN

Name: Short stature homeobox protein 2

UniProtKB Accession Codes:

O60902 O60465 O60467 O60903

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 ExpressionAtlas 1 GO 31 Gene3D 1 GeneCards 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 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 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 1 ProteomicsDB 3 RNAct 1 RefSeq 5 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9482898

Title: SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

PubMed ID: 9482898

DOI: 10.1073/pnas.95.5.2406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9466998

Title: A new human homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.

PubMed ID: 9466998

DOI: 10.1093/hmg/7.3.415

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

Sequence Information:

  • Length: 331
  • Mass: 34953
  • Checksum: 06402B3955682252
  • Sequence:
    • MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP TGCTEAGRDD RSSPAVRAAG 
GGGGGGGGGG GGGGGGGVGG GGAGGGAGGG RSPVRELDMG AAERSREPGS PRLTEVSPEL 
KDRKEDAKGM EDEGQTKIKQ RRSRTNFTLE QLNELERLFD ETHYPDAFMR EELSQRLGLS 
EARVQVWFQN RRAKCRKQEN QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV 
TPLSFQVQAQ LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV 
AAAAAAKTTS KNSSIADLRL KAKKHAAALG L

Genular Protein ID: 19061269

Symbol: A6NLG4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A6NLG4 A0A0A0MSP8 C9J3D0

Database IDs:

ARBA 3 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 3 Gene3D 1 HOGENOM 1 InterPro 6 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 ProteomicsDB 1 RefSeq 2 RuleBase 1 SMART 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 190
  • Mass: 20998
  • Checksum: 34FBD9AB9803FE25
  • Sequence:
    • MEDEGQTKIK QRRSRTNFTL EQLNELERLF DETHYPDAFM REELSQRLGL SEARVQVWFQ 
NRRAKCRKQE NQLHKGVLIG AASQFEACRV APYVNVGALR MPFQQVQAQL QLDSAVAHAH 
HHLHPHLAAH APYMMFPAPP FGLPLATLAA DSASAASVVA AAAAAKTTSK NSSIADLRLK 
AKKHAAALGL

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.