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FLASH GENE

Symbol

INSR

contributors: mct - updated : 22-01-2018

HGNC name	insulin receptor
HGNC id	6091

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

INSRDA , LPCN , HHF5 , RMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         splicing abnormalities in muscle of myotonic dystrophy 1 and 2 (DM1, DM2) constitutional     --other   haploinsufficiency for INSR and CHN2 associated with severe insulin resistance and intrauterine growth deficiency

Susceptibility

to typical migraine (MAWMA) to colorectal cancer (CRC) to type 2 diabetes (T2DM)

Variant & Polymorphism SNP	INSR A-603G promoter SNP, which is located within a known Sp1-binding site, was associated with the risk of CRC, with carriers of the G allele having a decreased risk
	variant genotypes rs1366600CC and TC/CC in the insulin receptor (INSR) gene were associated with T2DM

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS