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Gene Symbol |
RUNX2 |
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Aliases |
AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA |
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Entrez Gene ID |
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Gene Name |
RUNX family transcription factor 2 |
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Chromosomal Location |
6p21.1 |
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HGNC ID |
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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. 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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0001503 |
Biological process |
Ossification |
TAS |
12217689 |
| GO:0001649 |
Biological process |
Osteoblast differentiation |
IEP |
20128911 |
| GO:0001649 |
Biological process |
Osteoblast differentiation |
TAS |
12217689 |
| GO:0030097 |
Biological process |
Hemopoiesis |
IBA |
21873635 |
| GO:0030182 |
Biological process |
Neuron differentiation |
IBA |
21873635 |
| GO:0045669 |
Biological process |
Positive regulation of osteoblast differentiation |
IMP |
28703881 |
| GO:0045892 |
Biological process |
Negative regulation of transcription, DNA-templated |
IDA |
11965546 |
| GO:0045893 |
Biological process |
Positive regulation of transcription, DNA-templated |
IDA |
11965546 |
| GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IMP |
28505335, 28703881, 28738062 |
| GO:0005634 |
Cellular component |
Nucleus |
IBA |
21873635 |
| GO:0005634 |
Cellular component |
Nucleus |
IDA |
28505335, 28738062 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISM |
19274049 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
NAS |
19274049 |
| GO:0003700 |
Molecular function |
DNA-binding transcription factor activity |
NAS |
9182765 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
11965546, 12145306, 16299379, 17251981, 17377532, 20160071, 22065775, 24113655, 25331851 |
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| Protein Information |
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Protein Name |
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-specific transcription factor 2, polyomavirus enhancer-binding protein 2 alpha A subunit, runt related transcription factor 2 |
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Function |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000273610 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Skeletal Dysplasia |
20648631, 10521292, 12424590, 11857736, 28505335, 16270353, 10689183, 20082269, 24984680, 28738062, 12081718, 19744171, 28703881, 9207800, 12196916, 10545612, 10980549, 9182765, 15952089, 20301686, 26380986, 14688224, 1702208 |
| Odontome |
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| Stomatognathic System Abnormalities |
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| Craniosynostosis |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Rheumatoid Arthritis |
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| Musculoskeletal Diseases |
| Osteoarthrosis Deformans |
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| Arthritis, Psoriatic |
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| Arthritis |
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| Spondylarthritis |
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| Neoplasms |
| Osteosarcoma |
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| Renal Disorder |
| Uremia |
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References |
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| Aydos Alp, Gurel Aykut, Oztemur Islakoglu Yasemin, Noyan Senem, Gokce Bagdagul, Ecemis Tolga, Kaya Cemil, Aksu Arif Tarik, Gur Dedeoglu Bala |
| Biotechnology Institute, Ankara University, Ankara, Turkey.| Test Tube Babies Unit, HRS Women Hospital, Ankara, Turkey.| Biotechnology Institute, Ankara University, Ankara, Turkey.| Biotechnology Institute, Ankara University, Ankara, Turkey.| Test Tube Babies Unit, Medicana International Ankara Hospital, Ankara, Turkey.| Department of Gynecology and Obstetrics, Liv Hospital, Ankara, Turkey.| Department of Gynecology and Obstetrics, TOBB ETU Hospital, Ankara, Turkey.| Department of Gynecology and Obstetrics, HRS Women Hospital, Ankara, Turkey.| Biotechnology Institute, Ankara University, Ankara, Turkey. |
| PLoS One. 2016 Dec 20;11(12):e0168875. doi: 10.1371/journal.pone.0168875. |
Abstract
Polycystic ovary syndrome (PCOS) is a metabolic and endocrine disorder which affects women of reproductive age with prevalence of 8-18%. The oocyte within the follicle is surrounded by cumulus cells (CCs), which connect with mural granulosa cells (MGCs) that are responsible for secreting steroid hormones. The main aim of this study is comparing gene expression profiles of MGCs and CCs in PCOS and control samples to identify PCOS-specific differentially expressed genes (DEGs). In this study, two microarray databases were searched for mRNA expression microarray studies performed with CCs and MGCs obtained from PCOS patients and control samples. Three independent studies were selected to be integrated with naive meta-analysis since raw meta-data from these studies were found to be highly correlated. DEGs in these somatic cells were identified for PCOS and control groups. This study enabled us to reveal dysregulation in MAPK (mitogen activated protein kinase), insulin and Wnt signaling pathways between CCs and MGCs in PCOS. The meta-analysis results together with qRT-PCR validations provide evidence that molecular signaling is dysregulated through MGCs and CCs in PCOS, which is important for follicle and oocyte maturation and may contribute to the pathogenesis of the syndrome. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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