Details for: PAX7

Gene ID: 5081

Symbol: PAX7

Ensembl ID: ENSG00000009709

Description: paired box 7

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: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.3823
    Cell Significance Index: 35.3100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.4284
    Cell Significance Index: 26.4000
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 1.2991
    Cell Significance Index: 8.8800
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: 0.9762
    Cell Significance Index: 7.3100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.2205
    Cell Significance Index: 5.3400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1722
    Cell Significance Index: 4.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1126
    Cell Significance Index: 1.9300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0512
    Cell Significance Index: 0.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0501
    Cell Significance Index: 10.0400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0388
    Cell Significance Index: 13.9200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0145
    Cell Significance Index: 0.1900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0070
    Cell Significance Index: 0.1800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0036
    Cell Significance Index: 2.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0035
    Cell Significance Index: 0.7000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0014
    Cell Significance Index: 0.2400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0001
    Cell Significance Index: -0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0002
    Cell Significance Index: -0.3500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0013
    Cell Significance Index: -1.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0035
    Cell Significance Index: -2.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0038
    Cell Significance Index: -1.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0044
    Cell Significance Index: -3.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0052
    Cell Significance Index: -2.8600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0054
    Cell Significance Index: -2.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0054
    Cell Significance Index: -3.3600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0056
    Cell Significance Index: -3.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0093
    Cell Significance Index: -1.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0106
    Cell Significance Index: -1.5400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0112
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0155
    Cell Significance Index: -3.2600
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0212
    Cell Significance Index: -0.2400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0225
    Cell Significance Index: -0.5500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0235
    Cell Significance Index: -2.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0261
    Cell Significance Index: -3.0400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0270
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0270
    Cell Significance Index: -3.0900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0284
    Cell Significance Index: -2.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0348
    Cell Significance Index: -2.3400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0375
    Cell Significance Index: -2.8800
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.0375
    Cell Significance Index: -0.3100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0412
    Cell Significance Index: -0.5200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0430
    Cell Significance Index: -1.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0504
    Cell Significance Index: -3.1000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0511
    Cell Significance Index: -2.8700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0511
    Cell Significance Index: -1.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0532
    Cell Significance Index: -2.4800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0561
    Cell Significance Index: -2.4800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0568
    Cell Significance Index: -1.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0574
    Cell Significance Index: -2.7000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0576
    Cell Significance Index: -0.3900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0593
    Cell Significance Index: -0.9400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0597
    Cell Significance Index: -2.0900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0598
    Cell Significance Index: -3.1400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0606
    Cell Significance Index: -1.9300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0610
    Cell Significance Index: -1.9300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0637
    Cell Significance Index: -2.0900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0664
    Cell Significance Index: -2.5200
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0764
    Cell Significance Index: -0.5300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0777
    Cell Significance Index: -1.5600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0824
    Cell Significance Index: -1.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0851
    Cell Significance Index: -2.2800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0859
    Cell Significance Index: -2.4500
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.0860
    Cell Significance Index: -0.7400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0865
    Cell Significance Index: -0.8200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0877
    Cell Significance Index: -3.5900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0882
    Cell Significance Index: -4.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0928
    Cell Significance Index: -3.2600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0937
    Cell Significance Index: -0.9700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0946
    Cell Significance Index: -2.3600
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0957
    Cell Significance Index: -1.0100
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.1031
    Cell Significance Index: -1.4300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1032
    Cell Significance Index: -2.1000
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1069
    Cell Significance Index: -0.5600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1084
    Cell Significance Index: -2.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1097
    Cell Significance Index: -3.1600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1106
    Cell Significance Index: -2.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1134
    Cell Significance Index: -3.3400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1158
    Cell Significance Index: -2.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1183
    Cell Significance Index: -3.1600
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1230
    Cell Significance Index: -0.8000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1234
    Cell Significance Index: -2.4400
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1236
    Cell Significance Index: -1.2100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1237
    Cell Significance Index: -1.8500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1276
    Cell Significance Index: -2.6700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1280
    Cell Significance Index: -3.2600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1291
    Cell Significance Index: -2.5200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1308
    Cell Significance Index: -2.7300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1309
    Cell Significance Index: -3.1400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1322
    Cell Significance Index: -0.8300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1333
    Cell Significance Index: -3.3300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1346
    Cell Significance Index: -2.6500
  • Cell Name: lung resident memory CD8-positive, alpha-beta T cell (CL4033039)
    Fold Change: -0.1356
    Cell Significance Index: -1.2000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1384
    Cell Significance Index: -2.7600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1385
    Cell Significance Index: -2.9600
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1388
    Cell Significance Index: -1.8500
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.1538
    Cell Significance Index: -1.3900
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1585
    Cell Significance Index: -2.0300
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1588
    Cell Significance Index: -3.1100
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1588
    Cell Significance Index: -1.6200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1596
    Cell Significance Index: -3.3100

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:** PAX7 is a highly conserved transcription factor belonging to the paired box (PAX) family. It is characterized by its ability to bind to specific DNA sequences, regulating gene expression in various cell types. PAX7 is predominantly expressed in progenitor cells, muscle cells, and immune cells, where it plays a crucial role in development, differentiation, and survival. Its expression is tightly regulated by various transcriptional and post-transcriptional mechanisms, ensuring precise temporal and spatial control over its activity. **Pathways and Functions:** PAX7 is involved in several key developmental and regulatory pathways, including: 1. **Anatomical structure development**: PAX7 regulates the development of various tissues and organs, including muscle, bone, and the nervous system. 2. **Muscle organ development**: PAX7 is essential for the development and differentiation of muscle cells, particularly in the context of skeletal and cardiac muscle. 3. **Gastrulation**: PAX7 plays a role in the gastrulation process, where it regulates the specification of the neural plate border and the formation of the notochord. 4. **Negative regulation of apoptotic process**: PAX7 can act as a tumor suppressor by inhibiting apoptosis in certain cell types, such as muscle cells. 5. **DNA-binding transcription factor activity**: PAX7 regulates gene expression by binding to specific DNA sequences, influencing the transcription of target genes. **Clinical Significance:** Dysregulation of PAX7 has been implicated in various diseases, including: 1. **Muscle disorders**: Mutations in PAX7 have been associated with muscle disorders, such as limb-girdle muscular dystrophy and congenital muscular dystrophy. 2. **Cancer**: PAX7 has been identified as a tumor suppressor in certain types of cancer, including breast cancer and prostate cancer. 3. **Immune system disorders**: PAX7 is expressed in immune cells, and dysregulation of its expression has been implicated in immune system disorders, such as autoimmune diseases. 4. **Neurological disorders**: PAX7 has been implicated in neurological disorders, such as autism spectrum disorder and schizophrenia. In conclusion, PAX7 is a crucial transcription factor involved in the development, regulation, and maintenance of various tissues and organs. Its dysregulation has been implicated in various diseases, highlighting the importance of PAX7 in human health and disease. Further research is needed to fully understand the mechanisms by which PAX7 regulates gene expression and its role in disease.

Genular Protein ID: 4152355152

Symbol: PAX7_HUMAN

Name: Paired box protein Pax-7

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9339373

Title: The genomic organization and the full coding region of the human PAX7 gene.

PubMed ID: 9339373

DOI: 10.1006/geno.1997.4915

PubMed ID: 16830101

Title: Getting the proto-Pax by the tail.

PubMed ID: 16830101

DOI: 10.1007/s00239-005-0163-7

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 7527137

Title: Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.

PubMed ID: 7527137

DOI: 10.1093/nar/22.22.4574

PubMed ID: 2501086

Title: Conservation of the paired domain in metazoans and its structure in three isolated human genes.

PubMed ID: 2501086

DOI: 10.1002/j.1460-2075.1989.tb03490.x

PubMed ID: 8187070

Title: Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma.

PubMed ID: 8187070

PubMed ID: 10393185

Title: The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx.

PubMed ID: 10393185

DOI: 10.1093/emboj/18.13.3702

PubMed ID: 31092906

Title: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

PubMed ID: 31092906

DOI: 10.1038/s41436-019-0532-z

Sequence Information:

  • Length: 505
  • Mass: 55119
  • Checksum: E51CF8B3E8D4C3D9
  • Sequence:
  • MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 
    EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE 
    YKRENPGMFS WEIRDRLLKD GHCDRSTVPS GLVSSISRVL RIKFGKKEEE DEADKKEDDG 
    EKKAKHSIDG ILGDKGNRLD EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH 
    YPDIYTREEL AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL 
    PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS AYGARHSFSS 
    YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP QADFSISPLH GGLDSATSIS 
    ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS 
    TQRRMKLGEH SAVLGLLPVE TGQAY

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.