Details for: PAX9

Gene ID: 5083

Symbol: PAX9

Ensembl ID: ENSG00000198807

Description: paired box 9

Associated with

  • Cellular response to growth factor stimulus
    (GO:0071363)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Endoderm development
    (GO:0007492)
  • Face morphogenesis
    (GO:0060325)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Nucleolus
    (GO:0005730)
  • Nucleoplasm
    (GO:0005654)
  • Odontogenesis
    (GO:0042476)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of odontogenesis
    (GO:0042481)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

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: hematopoietic stem cell (CL0000037)
    Fold Change: 11.1195
    Cell Significance Index: 190.0800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 8.4987
    Cell Significance Index: 116.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 3.9382
    Cell Significance Index: -3.7600
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 3.4902
    Cell Significance Index: 28.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.7139
    Cell Significance Index: 166.3900
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 2.4014
    Cell Significance Index: 18.4700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.1060
    Cell Significance Index: 58.8600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.5676
    Cell Significance Index: 16.1700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8272
    Cell Significance Index: 12.0100
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 0.7330
    Cell Significance Index: 4.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6864
    Cell Significance Index: 130.6300
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.6246
    Cell Significance Index: 6.2500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5980
    Cell Significance Index: 14.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5857
    Cell Significance Index: 12.6900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5854
    Cell Significance Index: 57.9100
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.5006
    Cell Significance Index: 10.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4611
    Cell Significance Index: 416.3600
  • Cell Name: mucus secreting cell of tracheobronchial tree submucosal gland (CL4033037)
    Fold Change: 0.4373
    Cell Significance Index: 2.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3765
    Cell Significance Index: 12.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3717
    Cell Significance Index: 17.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2836
    Cell Significance Index: 36.3600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2475
    Cell Significance Index: 40.2600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1775
    Cell Significance Index: 19.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1719
    Cell Significance Index: 3.6600
  • Cell Name: obsolete animal cell (CL0000548)
    Fold Change: 0.1312
    Cell Significance Index: 1.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0998
    Cell Significance Index: 6.9000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0770
    Cell Significance Index: 13.8800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0570
    Cell Significance Index: 7.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0348
    Cell Significance Index: 1.7600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0232
    Cell Significance Index: 0.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0041
    Cell Significance Index: 2.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0040
    Cell Significance Index: 0.3000
  • Cell Name: airway submucosal gland collecting duct epithelial cell (CL4033023)
    Fold Change: 0.0014
    Cell Significance Index: 0.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0003
    Cell Significance Index: -0.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0018
    Cell Significance Index: -0.0800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0021
    Cell Significance Index: -0.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0022
    Cell Significance Index: -3.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0027
    Cell Significance Index: -4.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0043
    Cell Significance Index: -8.1700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0055
    Cell Significance Index: -0.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0057
    Cell Significance Index: -3.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0066
    Cell Significance Index: -4.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0075
    Cell Significance Index: -5.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0098
    Cell Significance Index: -4.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0148
    Cell Significance Index: -5.3200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0157
    Cell Significance Index: -8.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0191
    Cell Significance Index: -0.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0192
    Cell Significance Index: -8.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0219
    Cell Significance Index: -4.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0260
    Cell Significance Index: -0.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0261
    Cell Significance Index: -4.4600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0261
    Cell Significance Index: -1.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0283
    Cell Significance Index: -4.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0308
    Cell Significance Index: -3.9800
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.0352
    Cell Significance Index: -0.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0387
    Cell Significance Index: -7.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0391
    Cell Significance Index: -4.5600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0392
    Cell Significance Index: -0.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0394
    Cell Significance Index: -4.0200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0398
    Cell Significance Index: -4.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0496
    Cell Significance Index: -5.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0538
    Cell Significance Index: -1.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0578
    Cell Significance Index: -3.4700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0631
    Cell Significance Index: -8.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0661
    Cell Significance Index: -1.8000
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.0697
    Cell Significance Index: -0.6000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0722
    Cell Significance Index: -3.7600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0768
    Cell Significance Index: -2.8200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0855
    Cell Significance Index: -4.4400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0893
    Cell Significance Index: -4.2000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0915
    Cell Significance Index: -1.3100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0929
    Cell Significance Index: -6.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0979
    Cell Significance Index: -2.0300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0989
    Cell Significance Index: -1.9300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1063
    Cell Significance Index: -2.6600
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: -0.1156
    Cell Significance Index: -0.8800
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: -0.1160
    Cell Significance Index: -1.4400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1200
    Cell Significance Index: -1.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1241
    Cell Significance Index: -8.7800
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1283
    Cell Significance Index: -1.6600
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.1332
    Cell Significance Index: -1.6200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1371
    Cell Significance Index: -1.5600
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.1379
    Cell Significance Index: -1.1400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1411
    Cell Significance Index: -0.9600
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.1422
    Cell Significance Index: -1.5000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1431
    Cell Significance Index: -4.2200
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.1462
    Cell Significance Index: -0.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1546
    Cell Significance Index: -6.8400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1587
    Cell Significance Index: -4.6600
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.1636
    Cell Significance Index: -1.7900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1645
    Cell Significance Index: -4.7200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1680
    Cell Significance Index: -4.1900
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.1706
    Cell Significance Index: -2.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1734
    Cell Significance Index: -9.7300
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1757
    Cell Significance Index: -2.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1790
    Cell Significance Index: -6.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1844
    Cell Significance Index: -4.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1901
    Cell Significance Index: -4.5600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1937
    Cell Significance Index: -3.3400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1939
    Cell Significance Index: -2.7600

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. **Paired Box Domain:** PAX9 contains the characteristic paired box domain, a conserved DNA-binding motif essential for its transcriptional activity. 2. **Transcriptional Regulation:** PAX9 acts as a transcriptional activator, regulating the expression of target genes involved in cellular differentiation, growth, and development. 3. **Cell-Type Specificity:** PAX9 exhibits cell-type specific expression, suggesting its involvement in distinct cellular processes and tissue development. 4. **Diversity of Binding Partners:** PAX9 interacts with various transcriptional co-regulators, modulating the activity of RNA polymerase II and influencing gene expression. **Pathways and Functions:** 1. **Anatomical Structure Development:** PAX9 is involved in the development of various anatomical structures, including the face, odontogenesis, and endoderm. 2. **Cellular Response to Growth Factor Stimulus:** PAX9 modulates the response to growth factors, influencing cellular proliferation and differentiation. 3. **Chromatin Remodeling:** PAX9 interacts with chromatin remodeling complexes, facilitating the regulation of gene expression and transcription. 4. **Dna-templated Transcription:** PAX9 plays a crucial role in the regulation of DNA-templated transcription, influencing the expression of target genes. **Functions:** 1. **Odontogenesis:** PAX9 is essential for the development of teeth and dental tissues, highlighting its role in tooth morphogenesis and homeostasis. 2. **Endoderm Development:** PAX9 is involved in the development of endodermal tissues, including the esophagus and salivary gland. 3. **Face Morphogenesis:** PAX9 contributes to the development of facial structures, influencing the morphogenesis of the face. 4. **Hematopoiesis:** PAX9 is expressed in hematopoietic stem cells, suggesting its involvement in the regulation of hematopoiesis and blood cell development. **Clinical Significance:** 1. **Cancer Association:** Alterations in PAX9 expression have been linked to various cancers, including squamous cell carcinoma and leukemia. 2. **Oral Developmental Anomalies:** Abnormalities in PAX9 expression have been associated with oral developmental anomalies, such as tooth agenesis and cleft palate. 3. **Regenerative Medicine:** PAX9's role in odontogenesis and tissue development makes it a potential target for regenerative medicine applications, including tooth regeneration and tissue engineering. In conclusion, PAX9 is a multifunctional transcription factor that plays a crucial role in various developmental and cellular processes. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of PAX9 function and its clinical significance.

Genular Protein ID: 1886310522

Symbol: PAX9_HUMAN

Name: Paired box protein Pax-9

UniProtKB Accession Codes:

P55771 Q99582 Q9UQR4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10899593

Title: Evolutionary conservation of gene structures of the Pax1/9 gene family.

PubMed ID: 10899593

DOI: 10.1016/s0167-4781(00)00130-5

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: 7981748

Title: Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

PubMed ID: 7981748

DOI: 10.1038/ng0493-292

PubMed ID: 9021154

Title: Isolation of the Pax9 cDNA from adult human esophagus.

PubMed ID: 9021154

DOI: 10.1007/s003359900351

PubMed ID: 12657635

Title: Human PLU-1 has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9.

PubMed ID: 12657635

DOI: 10.1074/jbc.m301994200

PubMed ID: 12786960

Title: Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia.

PubMed ID: 12786960

DOI: 10.1034/j.1600-0722.2003.00036.x

Sequence Information:

  • Length: 341
  • Mass: 36310
  • Checksum: F5E6B0BC991E7C1D
  • Sequence:
    • MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 
NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV 
SSISRILRNK IGNLAQQGHY DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP 
AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA 
VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH 
GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L

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.