• Gene id: 864

Gene Summary

• Gene Symbol: RUNX3   Gene   UCSC   Ensembl
• Aliases: AML2, CBFA3, PEBP2aC
• Gene name: RUNX family transcription factor 3
• Alternate names: runt-related transcription factor 3, CBF-alpha-3, PEA2 alpha C, PEBP2 alpha C, SL3-3 enhancer factor 1 alpha C subunit, SL3/AKV core-binding factor alpha C subunit, acute myeloid leukemia 2 protein, acute myeloid leukemia gene 2, core-binding factor subunit alph,
• Gene location: 1p36.11 (24965157: 24899510)     Exons: 7     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and
• OMIM: 600210

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04658	Th1 and Th2 cell differentiation
hsa05169	Epstein-Barr virus infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Regulates ovarian function and ovulation	MIK: 27301496
Male infertility	MIK: 27301496
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27301496	Regulates ovarian function and ovulation, Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray