Details for: RUNX2

Gene ID: 860

Symbol: RUNX2

Ensembl ID: ENSG00000124813

Description: RUNX family transcription factor 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 144.3953
    Cell Significance Index: -22.4600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 79.6788
    Cell Significance Index: -20.2100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 46.0300
    Cell Significance Index: -18.7000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.8169
    Cell Significance Index: -18.9200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.1596
    Cell Significance Index: -22.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.4327
    Cell Significance Index: -22.5900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.8734
    Cell Significance Index: -18.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.7475
    Cell Significance Index: -22.6800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.2959
    Cell Significance Index: 20.3800
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.9110
    Cell Significance Index: 11.7900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.7179
    Cell Significance Index: 326.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.3968
    Cell Significance Index: 33.5000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.2252
    Cell Significance Index: 14.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1266
    Cell Significance Index: 111.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.0684
    Cell Significance Index: 68.9300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0457
    Cell Significance Index: 944.1500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.0416
    Cell Significance Index: 64.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.0190
    Cell Significance Index: 365.5000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9373
    Cell Significance Index: 120.1600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9352
    Cell Significance Index: 12.7600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.8496
    Cell Significance Index: 14.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8396
    Cell Significance Index: 58.0600
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.7147
    Cell Significance Index: 7.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6549
    Cell Significance Index: 129.9600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6281
    Cell Significance Index: 125.9900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5633
    Cell Significance Index: 91.6200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5454
    Cell Significance Index: 14.0200
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.5399
    Cell Significance Index: 4.9000
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.4946
    Cell Significance Index: 1.3300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 0.4694
    Cell Significance Index: 3.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4474
    Cell Significance Index: 12.8900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4289
    Cell Significance Index: 46.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3530
    Cell Significance Index: 27.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1466
    Cell Significance Index: 276.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1391
    Cell Significance Index: 6.4900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1184
    Cell Significance Index: 2.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1144
    Cell Significance Index: 6.4200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1062
    Cell Significance Index: 3.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0920
    Cell Significance Index: 4.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0885
    Cell Significance Index: 10.3100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0804
    Cell Significance Index: 0.7400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0737
    Cell Significance Index: 2.0100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0731
    Cell Significance Index: 2.7700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0511
    Cell Significance Index: 0.7900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0336
    Cell Significance Index: 0.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0335
    Cell Significance Index: 14.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0306
    Cell Significance Index: 56.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0300
    Cell Significance Index: 46.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0293
    Cell Significance Index: 1.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0263
    Cell Significance Index: 16.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0260
    Cell Significance Index: 35.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0240
    Cell Significance Index: 4.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0171
    Cell Significance Index: 2.1000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0146
    Cell Significance Index: 0.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0035
    Cell Significance Index: 1.6100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.0007
    Cell Significance Index: 0.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0023
    Cell Significance Index: -1.2500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0047
    Cell Significance Index: -0.1000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0152
    Cell Significance Index: -0.3300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0167
    Cell Significance Index: -2.4200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0233
    Cell Significance Index: -17.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0245
    Cell Significance Index: -18.1700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0279
    Cell Significance Index: -0.4000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0280
    Cell Significance Index: -20.5300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0325
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0370
    Cell Significance Index: -23.0800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0380
    Cell Significance Index: -21.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0429
    Cell Significance Index: -0.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0474
    Cell Significance Index: -2.1500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0613
    Cell Significance Index: -1.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0652
    Cell Significance Index: -18.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0815
    Cell Significance Index: -8.4900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0931
    Cell Significance Index: -12.7800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0943
    Cell Significance Index: -2.0200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0951
    Cell Significance Index: -2.0300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1010
    Cell Significance Index: -2.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1045
    Cell Significance Index: -22.0100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1107
    Cell Significance Index: -18.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1128
    Cell Significance Index: -11.5300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1603
    Cell Significance Index: -5.0700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1619
    Cell Significance Index: -2.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1645
    Cell Significance Index: -21.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1657
    Cell Significance Index: -4.6300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1675
    Cell Significance Index: -19.7500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1826
    Cell Significance Index: -8.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1883
    Cell Significance Index: -12.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1902
    Cell Significance Index: -21.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2162
    Cell Significance Index: -4.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2273
    Cell Significance Index: -11.8100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2326
    Cell Significance Index: -4.6000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2390
    Cell Significance Index: -2.9800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2467
    Cell Significance Index: -7.2500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2530
    Cell Significance Index: -5.2800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2569
    Cell Significance Index: -18.1700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2589
    Cell Significance Index: -5.3700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2649
    Cell Significance Index: -20.9800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2751
    Cell Significance Index: -7.3600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2937
    Cell Significance Index: -21.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2995
    Cell Significance Index: -9.5400
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3015
    Cell Significance Index: -3.9100

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** RUNX2 exhibits the following characteristics: 1. **Transcriptional regulation**: RUNX2 acts as a transcriptional regulator by binding to specific DNA sequences, thereby controlling the expression of target genes involved in bone development, chondrocyte maturation, and osteoblast differentiation. 2. **DNA-binding activity**: RUNX2 possesses a high degree of specificity for its target DNA sequences, allowing it to regulate gene expression with high precision. 3. **Chromatin remodeling**: RUNX2 interacts with chromatin remodeling complexes to facilitate the activation or repression of target genes. 4. **Cell-type specificity**: RUNX2 exhibits cell-type specificity, with different cell types expressing distinct isoforms of the protein. 5. **Regulation by other transcription factors**: RUNX2 is modulated by other transcription factors, such as BMPs and Smad proteins, which affect its activity and expression. **Pathways and Functions** RUNX2 is involved in several signaling pathways and processes, including: 1. **Bone mineralization**: RUNX2 regulates the expression of genes involved in bone mineralization, including alkaline phosphatase and osteocalcin. 2. **Chondrocyte differentiation**: RUNX2 promotes the differentiation of chondrocytes, the cells responsible for cartilage formation. 3. **Osteoblast differentiation**: RUNX2 regulates the expression of genes involved in osteoblast differentiation, including osteocalcin and runx-related transcription factor 1 (Runt-related transcription factor 1). 4. **Endochondral ossification**: RUNX2 plays a crucial role in the process of endochondral ossification, where cartilage templates are replaced by bone tissue. 5. **Hemopoiesis**: RUNX2 is involved in the regulation of hematopoiesis, particularly in the development of myeloid cells. **Clinical Significance** Dysregulation of RUNX2 has been implicated in various bone-related disorders, including: 1. **Osteogenesis imperfecta**: A genetic disorder characterized by fragile bones and skeletal deformities. 2. **Osteopetrosis**: A rare genetic disorder characterized by increased bone density and impaired bone resorption. 3. **Bone cancer**: RUNX2 mutations have been identified in certain types of bone cancer, including osteosarcoma and chondrosarcoma. 4. **Bone metabolism disorders**: RUNX2 dysregulation has been implicated in various bone metabolism disorders, including osteoporosis and bone anemia. In conclusion, RUNX2 is a critical transcription factor involved in the regulation of bone development, chondrocyte maturation, and osteoblast differentiation. Its dysregulation has significant clinical implications, highlighting the importance of understanding the molecular mechanisms underlying bone development and disease.

Genular Protein ID: 3551679689

Symbol: RUNX2_HUMAN

Name: Runt-related transcription factor 2

UniProtKB Accession Codes:

Q13950 O14614 O14615 O95181

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 21 Ensembl 5 ExpressionAtlas 1 GO 53 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 9 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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: 3070027947

Symbol: Q32MY8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q32MY8

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 GO 5 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 Pfam 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 2

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

Genular Protein ID: 577805436

Symbol: A0A0D9SEN7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0D9SEN7

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 1 GeneTree 1 HGNC 1 InterPro 7 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 1 PRINTS 1 PROSITE 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 14574404

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

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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

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.