Seroatlas · Human Serome Atlas

RUNX2

Runt-related transcription factor 2

Also known as: AML3, CBFA1, CCD, CCD1, PEBP2A1, PEBP2aA1, RUNX2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13950
Gene
RUNX2
Ensembl
ENSG00000124813
Chromosome
6
Canonical length
521 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI Gene

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. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other 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 2016]

Canonical amino-acid sequenceUniProt

521 residues, UniProt reviewed canonical sequence.

>Q13950|RUNX2
     1  MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ QQQQQQQQQQ
    61  QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN
   121  FLCSVLPSHW RCNKTLPVAF KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA
   181  RFNDLRFVGR SGRGKSFTLT ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS
   241  LFSDRLSDLG RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD
   301  QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC LWPSTLSKKS
   361  QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY TPPVTSGMSL GMSATTHYHT
   421  YLPPPYPGSS QSQSGPFQTS STPYLYYGTS SGSYQFPMVP GGDRSPSRML PPCTTTSNGS
   481  TLLNPNLPNQ NDGVDADGSH SSSPTVLNSS GRMDESVWRP Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUNX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.61
Highest tissue expression
9.4 nTPM

Expression across tissuesHPA

Tissue

  • salivary gland: 9.4 nTPM
  • bone marrow: 9.2 nTPM
  • cervix: 6.3 nTPM
  • tonsil: 5.3 nTPM
  • small intestine: 5.2 nTPM
  • lymph node: 4.2 nTPM

Single-cell type

  • innate lymphoid cells: 924 nCPM
  • pdcs: 868 nCPM
  • salivary ionocytes: 723 nCPM
  • thymocytes: 695 nCPM
  • salivary duct cells: 518 nCPM
  • microglia: 450 nCPM

Immune cell

  • NK-cell: 22 nTPM
  • plasmacytoid DC: 15 nTPM
  • MAIT T-cell: 13 nTPM
  • basophil: 8.6 nTPM
  • neutrophil: 6.5 nTPM
  • eosinophil: 4.5 nTPM

Brain region

  • thalamus: 4.2 nTPM
  • medulla oblongata: 4.1 nTPM
  • white matter: 4.1 nTPM
  • pons: 4 nTPM
  • cerebral cortex: 3.8 nTPM
  • midbrain: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RUNX2.

Disease | AllUniProt

Conditions RUNX2 is implicated in, by any mechanism.

  • Cleidocranial dysplasia 1 (CLCD1) MIM:119600
  • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) MIM:156510

Disease | GeneticClinVar

174 pathogenic / likely-pathogenic of 665 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cleidocranial dysostosis
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
  • RUNX2-related disorder
  • Inborn genetic diseases
  • Cleidocranial dysplasia 1, forme fruste, with brachydactyly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.34
gnomAD pLI
0.95
gnomAD missense Z
1.6
DepMap mean gene effect
-0.27
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RUNX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RUNX2 as an antibody target. Whether an autoantibody or antibody against RUNX2 could matter depends on whether native RUNX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RUNX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RUNX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RUNX2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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