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FLASH GENE

Symbol

RUNX1

contributors: mct - updated : 28-09-2018

HGNC name	runt-related transcription factor 1
HGNC id	10471

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FPDAML , AML1 , DEL21Q2212

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with FGA7 in t(4;21) (q31;q22) in T cell acute leukemia tumoral   LOH     in acute myeloid leukemia tumoral       gain of function in acute myeloid leukemia tumoral fusion       with CBFA2T1 in acute myeloid leukemia (AML1-ETO) with t(8;21)(q22;q22), often associated with prior therapy t(17;21)(q11.2;q22) and others myelodysplasia syndrome with t(3;21)(q26;q22), acute lymphoblastic leukemia with t(12;21)(p13;q22) only in childhood tumoral fusion       fusion with PRDM16 in a patient with acute myeloid leukemia showing t(1;21)(p36;q22) tumoral     --low   in acute megakaryoblastic leukemia of Down syndrome tumoral somatic mutation       in high-risk myelodysplastic syndrome tumoral fusion       AML1-ETO9a leads to rapid development of leukemia and results in the substantially earlier onset of AML because blocks myeloid cell differentiation at a more immature stage (arg-methyaltion sites are lost in the fusion protein and contribute to its dominant inhibitory activity tumoral fusion       with ZFPM2, in myelodysplasia tumoral   translocation     t(9;21)(q34;q22), in myeloproliferative syndrome with with a high risk of transformation to acute myeloid leukemia tumoral somatic mutation       deregulated alternative splicing of AML1b transcripts may potentially contribute to the pathophysiology of ovarian cancers tumoral fusion       LRP16 fusion partner involving t(11;21)(q13;q22) in monocytic leukemia tumoral fusion       with LPXN in an acute myeloid leukemia (AML) patient with t(11;21)(q12;q22) tumoral fusion       with AFF3, partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) tumoral fusion       cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16, in chronic myelomonocytic leukemia ) constitutional     --over   of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing tumoral     --over   with NFE2 in granulocytes of patients with polycythemia vera and other myeloproliferative neoplasms

Susceptibility

to rheumatoid arthritis in association with SLC22A4 to psoriasis role of RUNX1 haploinsufficiency in megakaryopoiesis and predisposition to AML

Variant & Polymorphism SNP	SNP between SLC9AR1 and NAT9 leading to loss of RUNX1 binding site, associated with psoriasis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   dasatinib could be a potent inhibitor for both activation loop and juxtamembrane domain mutants of KIT, thus opening therapeutic perspectives for dasatinib in the treatment of leukemias with activated KIT abnormalities. cancer hemopathy   NFKB signaling is one of the promising therapeutic targets of hematologic malignancies with RUNX1 abnormality

ANIMAL & CELL MODELS