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RUNX2

GENERAL INFORMATION

Gene name

 RUNX2

Gene description

 Runt-related transcription factor 2

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in salivary gland and subsets of infiltrating immune cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Supported based on 4 antibodies.
HPA022040 , CAB008374 , CAB062561 , CAB068226
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Salivary gland

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 860

UniProt

 Q13950 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13950

Antibodypedia

 RUNX2 antibodies

PROTEIN BROWSER
RUNX2-001
RUNX2-002
RUNX2-003
RUNX2-004
RUNX2-008
RUNX2-010
RUNX2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RUNX2-001
ENSP00000352514
ENST00000359524
Q13950 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0000790 [nuclear chromatin]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001503 [ossification]
GO:0001649 [osteoblast differentiation]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0010467 [gene expression]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0030509 [BMP signaling pathway]
GO:0045595 [regulation of cell differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 507 aa
55.1 kDa 		No 0
RUNX2-002
ENSP00000420707
ENST00000465038
Q13950 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0000790 [nuclear chromatin]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001503 [ossification]
GO:0001649 [osteoblast differentiation]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0010467 [gene expression]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0030509 [BMP signaling pathway]
GO:0045595 [regulation of cell differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 521 aa
56.6 kDa 		No 0
RUNX2-003
ENSP00000360493
ENST00000371438
Q13950 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001501 [skeletal system development]
GO:0001503 [ossification]
GO:0001649 [osteoblast differentiation]
GO:0001958 [endochondral ossification]
GO:0002051 [osteoblast fate commitment]
GO:0002062 [chondrocyte differentiation]
GO:0002063 [chondrocyte development]
GO:0002076 [osteoblast development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0008134 [transcription factor binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0019904 [protein domain specific binding]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0030217 [T cell differentiation]
GO:0030278 [regulation of ossification]
GO:0030509 [BMP signaling pathway]
GO:0032332 [positive regulation of chondrocyte differentiation]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042487 [regulation of odontogenesis of dentin-containing tooth]
GO:0042826 [histone deacetylase binding]
GO:0043425 [bHLH transcription factor binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0044344 [cellular response to fibroblast growth factor stimulus]
GO:0045595 [regulation of cell differentiation]
GO:0045667 [regulation of osteoblast differentiation]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045778 [positive regulation of ossification]
GO:0045879 [negative regulation of smoothened signaling pathway]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048469 [cell maturation]
GO:0048701 [embryonic cranial skeleton morphogenesis]
GO:0048705 [skeletal system morphogenesis]
GO:0048863 [stem cell differentiation]
GO:0070491 [repressing transcription factor binding]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 521 aa
56.6 kDa 		No 0
RUNX2-004
ENSP00000360491
ENST00000371436
Q13950 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0000790 [nuclear chromatin]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001503 [ossification]
GO:0001649 [osteoblast differentiation]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0010467 [gene expression]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0030509 [BMP signaling pathway]
GO:0045595 [regulation of cell differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 499 aa
54.2 kDa 		No 0
RUNX2-008
ENSP00000458178
ENST00000576263
I3L0L0 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Show all
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0045595 [regulation of cell differentiation]
Show all
 542 aa
57.7 kDa 		No 0
RUNX2-010
ENSP00000485863
ENST00000625924
A0A0D9SEN7 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Show all
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0045595 [regulation of cell differentiation]
Show all
 485 aa
52.7 kDa 		No 0
RUNX2-201
ENSP00000360486
ENST00000371432
Q13950 [Direct mapping]
Runt-related transcription factor 2
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000790 [nuclear chromatin]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001503 [ossification]
GO:0001649 [osteoblast differentiation]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0010467 [gene expression]
GO:0030097 [hemopoiesis]
GO:0030182 [neuron differentiation]
GO:0030509 [BMP signaling pathway]
GO:0045595 [regulation of cell differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 499 aa
54.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.