Details for: RUNX2

Gene ID: 860

Symbol: RUNX2

Ensembl ID: ENSG00000124813

Description: RUNX family transcription factor 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 5.56
    Marker Score: 16221
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.92
    Marker Score: 14589
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.9
    Marker Score: 11195
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.5
    Marker Score: 29611.5
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.41
    Marker Score: 9718
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.38
    Marker Score: 9860
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.29
    Marker Score: 4333
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.27
    Marker Score: 83591
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.16
    Marker Score: 1074
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.13
    Marker Score: 1239
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 2.1
    Marker Score: 594
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.8
    Marker Score: 3465
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.76
    Marker Score: 26281
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 1.75
    Marker Score: 939
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.63
    Marker Score: 1878
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.56
    Marker Score: 6050.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.5
    Marker Score: 484
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.49
    Marker Score: 539
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168562
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.41
    Marker Score: 1408
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.37
    Marker Score: 1214.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.35
    Marker Score: 813
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.3
    Marker Score: 902
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.27
    Marker Score: 4905
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.26
    Marker Score: 19704
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.23
    Marker Score: 2894
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.18
    Marker Score: 856.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.16
    Marker Score: 23152
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.16
    Marker Score: 4854.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.15
    Marker Score: 11858
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4763
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.13
    Marker Score: 468
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.04
    Marker Score: 9769.5
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251744.5
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.03
    Marker Score: 4312
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.03
    Marker Score: 297
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.02
    Marker Score: 6130
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47988
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.95
    Marker Score: 398
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.93
    Marker Score: 9418
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.93
    Marker Score: 293
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.91
    Marker Score: 281
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.89
    Marker Score: 358
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 4997
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 313
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.86
    Marker Score: 7407
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.83
    Marker Score: 378
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.83
    Marker Score: 484
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.82
    Marker Score: 384
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.82
    Marker Score: 1024
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.82
    Marker Score: 501
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.79
    Marker Score: 283
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.78
    Marker Score: 374
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 596
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.77
    Marker Score: 1192
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.77
    Marker Score: 47454
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.77
    Marker Score: 241
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1235
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.75
    Marker Score: 204
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.73
    Marker Score: 148
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 379
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 659
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.72
    Marker Score: 187
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.71
    Marker Score: 1568.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7
    Marker Score: 741
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.68
    Marker Score: 934
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.67
    Marker Score: 296
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.66
    Marker Score: 224
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.66
    Marker Score: 331
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 423
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.64
    Marker Score: 2586
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.63
    Marker Score: 142
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6
    Marker Score: 278
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.6
    Marker Score: 155
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.59
    Marker Score: 2427
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.59
    Marker Score: 1938
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 376
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.58
    Marker Score: 553
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.57
    Marker Score: 138
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.57
    Marker Score: 378
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.56
    Marker Score: 458
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.56
    Marker Score: 147
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.56
    Marker Score: 275
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.55
    Marker Score: 745
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.55
    Marker Score: 123.5
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.55
    Marker Score: 993
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.54
    Marker Score: 368
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.54
    Marker Score: 283
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.54
    Marker Score: 647
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.54
    Marker Score: 545
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.53
    Marker Score: 1213.5

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Other Information

**Key characteristics:** - It is a highly conserved protein with a conserved domain structure. - It is a key transcription factor in the regulation of cell differentiation. - It is expressed in a variety of cell types, including myeloid cells, bone cells, and endothelial cells. **Pathways and functions:** - RUNX2 regulates gene expression through various pathways, including the Generic transcription pathway, Rna polymerase II-specific, and Rna polymerase II cis-regulatory region sequence-specific DNA binding. - It is involved in the regulation of bone development, cell migration, and differentiation of myeloid cells. - It is also involved in the regulation of cell growth, differentiation, and survival. **Clinical significance:** - Mutations in RUNX2 have been linked to various human diseases, including cancer, cardiovascular disease, and developmental disorders. - Targeting RUNX2 has emerged as a promising therapeutic strategy for these diseases. **Additional notes:** - RUNX2 is a highly important transcription factor that plays a crucial role in human health and disease. - Understanding the functions of RUNX2 could lead to the development of new therapeutic strategies for a variety of human diseases.

Genular Protein ID: 3551679689

Symbol: RUNX2_HUMAN

Name: Runt-related transcription factor 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9182765

Title: Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

PubMed ID: 9182765

DOI: 10.1016/s0092-8674(00)80260-3

PubMed ID: 9434946

Title: Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.

PubMed ID: 9434946

DOI: 10.1007/s003359900679

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 9651525

Title: Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor.

PubMed ID: 9651525

DOI: 10.1016/s0378-1119(98)00227-3

PubMed ID: 9233771

Title: The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.

PubMed ID: 9233771

DOI: 10.1038/sj.onc.1201352

PubMed ID: 12145306

Title: Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.

PubMed ID: 12145306

DOI: 10.1074/jbc.m206482200

PubMed ID: 11965546

Title: MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2.

PubMed ID: 11965546

DOI: 10.1038/sj.onc.1205367

PubMed ID: 16407259

Title: Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation.

PubMed ID: 16407259

DOI: 10.1074/jbc.m508162200

PubMed ID: 17377532

Title: Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1.

PubMed ID: 17377532

DOI: 10.1038/nature05673

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 23290074

Title: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

PubMed ID: 23290074

DOI: 10.1016/j.ajhg.2012.12.001

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 9207800

Title: Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

PubMed ID: 9207800

DOI: 10.1038/ng0797-307

PubMed ID: 10521292

Title: Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

PubMed ID: 10521292

DOI: 10.1086/302622

PubMed ID: 10545612

Title: CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

PubMed ID: 10545612

DOI: 10.1093/hmg/8.12.2311

PubMed ID: 10689183

Title: PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.

PubMed ID: 10689183

DOI: 10.1016/s0378-1119(99)00558-2

PubMed ID: 10980549

Title: A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

PubMed ID: 10980549

DOI: 10.1002/1098-1004(200009)16:3<277::aid-humu25>3.0.co;2-v

PubMed ID: 12196916

Title: Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

PubMed ID: 12196916

DOI: 10.1086/342717

PubMed ID: 12081718

Title: New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

PubMed ID: 12081718

DOI: 10.1034/j.1399-0004.2002.610505.x

PubMed ID: 12424590

Title: Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

PubMed ID: 12424590

DOI: 10.1007/s00431-002-0977-x

PubMed ID: 11857736

Title: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

PubMed ID: 11857736

DOI: 10.1002/humu.10043

PubMed ID: 16270353

Title: Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

PubMed ID: 16270353

DOI: 10.1002/jcp.20552

PubMed ID: 20082269

Title: A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.

PubMed ID: 20082269

DOI: 10.4238/vol9-1gmr685

PubMed ID: 20648631

Title: Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

PubMed ID: 20648631

DOI: 10.1002/humu.21298

PubMed ID: 19744171

Title: RUNX2 mutations in cleidocranial dysplasia patients.

PubMed ID: 19744171

DOI: 10.1111/j.1601-0825.2009.01623.x

PubMed ID: 24984680

Title: A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

PubMed ID: 24984680

PubMed ID: 28703881

Title: A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.

PubMed ID: 28703881

DOI: 10.1002/jcb.26283

PubMed ID: 28505335

Title: Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.

PubMed ID: 28505335

DOI: 10.1093/mutage/gex012

PubMed ID: 28738062

Title: Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

PubMed ID: 28738062

DOI: 10.1371/journal.pone.0181653

Sequence Information:

  • Length: 521
  • Mass: 56648
  • Checksum: 44C4F3867D6F3EB1
  • Sequence:
  • MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ QQQQQQQQQQ 
    QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN 
    FLCSVLPSHW RCNKTLPVAF KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA 
    RFNDLRFVGR SGRGKSFTLT ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS 
    LFSDRLSDLG RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 
    QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC LWPSTLSKKS 
    QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY TPPVTSGMSL GMSATTHYHT 
    YLPPPYPGSS QSQSGPFQTS STPYLYYGTS SGSYQFPMVP GGDRSPSRML PPCTTTSNGS 
    TLLNPNLPNQ NDGVDADGSH SSSPTVLNSS GRMDESVWRP Y

Genular Protein ID: 577805436

Symbol: A0A0D9SEN7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 485
  • Mass: 52656
  • Checksum: 8C06965E70CA4DC7
  • Sequence:
  • MRIPVDPSTS RRFSPPSSSL QPGKMSDVSP VVAAQQQQQQ QQQQQQQQQQ QQQQQQQEAA 
    AAAAAAAAAA AAAAAVPRLR PPHDNRTMVE IIADHPAELV RTDSPNFLCS VLPSHWRCNK 
    TLPVAFKVVA LGEVPDGTVV TVMAGNDENY SAELRNASAV MKNQVARFND LRFVGRSGRG 
    KSFTLTITVF TNPPQVATYH RAIKVTVDGP REPRRHRQKL DDSKPSLFSD RLSDLGRIPH 
    PSMRVGVPPQ NPRPSLNSAP SPFNPQGQSQ ITDPRQAQSS PPWSYDQSYP SYLSQMTSPS 
    IHSTTPLSST RGTGLPAITD VPRRISGASE LGPFSDPRQF PSISSLTESR FSNPRMHYPA 
    TFTYTPPVTS GMSLGMSATT HYHTYLPPPY PGSSQSQSGP FQTSSTPYLY YGTSSGSYQF 
    PMVPGGDRSP SRMLPPCTTT SNGSTLLNPN LPNQNDGVDA DGSHSSSPTV LNSSGRMDES 
    VWRPY

Genular Protein ID: 3070027947

Symbol: Q32MY8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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

Sequence Information:

  • Length: 172
  • Mass: 18809
  • Checksum: D357C6F204AA46E1
  • Sequence:
  • MRIPVDPSTS RRFSPPSSSL QPGKMSDVSP VVAAQQQQQQ QQQQQQQQQQ QQQQQQQEAA 
    AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN FLCSVLPSHW RCNKTLPVAF 
    KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA RFNDLRFVGR SG

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. For the full schema, download it here.