• Gene id: 860

Gene Summary

• Gene Symbol: RUNX2   Gene   UCSC   Ensembl
• Aliases: AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
• Gene name: RUNX family transcription factor 2
• Alternate names: runt-related transcription factor 2, PEA2-alpha A, PEBP2-alpha A, SL3-3 enhancer factor 1 alpha A subunit, SL3/AKV core-binding factor alpha A subunit, acute myeloid leukemia 3 protein, core-binding factor, runt domain, alpha subunit 1, oncogene AML-3, osteoblast,
• Gene location: 6p21.1 (45328316: 45551081)     Exons: 10     NC_000006.12
• Gene summary(Entrez): This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids
• OMIM: 615914

Protein Summary

• Protein general information: Q13950  
  • Name: Runt related transcription factor 2 (Acute myeloid leukemia 3 protein) (Core binding factor subunit alpha 1) (CBF alpha 1) (Oncogene AML 3) (Osteoblast specific transcription factor 2) (OSF 2) (Polyomavirus enhancer binding protein 2 alpha A subunit) (PEA
  • Length: 521  
  • Mass: 56648
  • Tissue specificity: Specifically expressed in osteoblasts.
• Sequence:

  MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQQEAAA
  AAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPD
  GTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPR
  EPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
  QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQ
  FPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTS
  SGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY

• Structural information:
  • Protein Domains: (101..22-)
    (/note="Runt-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00399"-)
  • Interpro: IPR000040  IPR008967  IPR012346  IPR013524  IPR027384   IPR013711  IPR016554  
  • Prosite: PS51062
  • DIP: 36707
  • STRING: ENSP00000360493
• Other Databases: GeneCards:  RUNX2  Malacards:  RUNX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001503	ossification	IBA	biological process
GO:0045595	regulation of cell differentiation	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0030097	hemopoiesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0002062	chondrocyte differentiation	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0001503	ossification	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0002063	chondrocyte development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0043425	bHLH transcription factor binding	IEA	molecular function
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0002051	osteoblast fate commitment	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030217	T cell differentiation	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0070491	repressing transcription factor binding	IEA	molecular function
GO:0071773	cellular response to BMP stimulus	ISS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0001649	osteoblast differentiation	TAS	biological process
GO:0001503	ossification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Cleidocranial dysplasia	KEGG:H00521
Cleidocranial dysplasia	KEGG:H00521
Cleidocranial dysplasia	PMID:9182765
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq