RUNX2

GENE INFORMATION

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Gene name

RUNX2 (HGNC Symbol)

Synonyms

AML3, CBFA1, CCD, CCD1, PEBP2A1, PEBP2aA1

Description

Runt-related transcription factor 2 (HGNC Symbol)

Entrez gene summary

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 and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

p21.1

Chromosome location (bp)

45328157 - 45664349

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124813 (version 78.38)

Entrez gene

860

UniProt

Q13950 (UniProt - Evidence at protein level)

neXtProt

NX_Q13950

Antibodypedia

RUNX2 antibodies
 

PROTEIN VIEW

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RUNX2-001
 
RUNX2-002
 
RUNX2-003
 
RUNX2-004
 
RUNX2-008
 
RUNX2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RUNX2-001 ENSP00000352514
ENST00000359524
Q13950
Show all »
Show » Show » 507 55.1 No 0
RUNX2-002 ENSP00000420707
ENST00000465038
Q13950
Show all »
Show » Show » 521 56.6 No 0
RUNX2-003 ENSP00000360493
ENST00000371438
Q13950
Show all »
Show » Show » 521 56.6 No 0
RUNX2-004 ENSP00000360491
ENST00000371436
Q13950
Show all »
Show » Show » 499 54.2 No 0
RUNX2-008 ENSP00000458178
ENST00000576263
I3L0L0
Show all »
Show » Show » 542 57.7 No 0
RUNX2-201 ENSP00000360486
ENST00000371432
Q13950
Show all »
Show » Show » 499 54.2 No 0