Details for: RUNX2
Associated with
Other Information
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
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
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
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
PubMed ID: 12145306
Title: Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.
PubMed ID: 12145306
PubMed ID: 11965546
Title: MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2.
PubMed ID: 11965546
PubMed ID: 16407259
Title: Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation.
PubMed ID: 16407259
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
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
PubMed ID: 10689183
Title: PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
PubMed ID: 10689183
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
PubMed ID: 12424590
Title: Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
PubMed ID: 12424590
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
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
PubMed ID: 28738062
Title: Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
PubMed ID: 28738062
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. 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.