SETD2 Chromosome 3

SET domain containing 2, histone lysine methyltransferase
123 variants 1 Drug Response 122 Health Risk

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What This Gene Does
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000181555
Associated Conditions (25)
Wee1 Inhibitor response
Inborn genetic diseases
Luscan-Lumish syndrome
Rabin-Pappas syndrome
Intellectual developmental disorder
autosomal dominant 70
SETD2-related disorder
Ovarian serous cystadenocarcinoma
Congenital portosystemic shunt
Acute megakaryoblastic leukemia without down syndrome
See cases
Autism spectrum disorder
Neoplasm
Thyroid cancer
nonmedullary
1
Intellectual disability
Corpus callosum
agenesis of
Cerebellar vermis hypoplasia
+5 more conditions
Key Variants
RS1553691550
drug response
Wee1 Inhibitor response, Wee1 Inhibitor response
Drug Response
RS1015887716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1024384980
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
Health Risk
RS114527197
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Rabin-Pappas syndrome, Intellectual developmental disorder
Health Risk
RS115156486
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
Health Risk
RS115788094
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Luscan-Lumish syndrome
Health Risk
RS115859828
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
Health Risk
RS1162661952
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Luscan-Lumish syndrome
Health Risk
RS1162711197
Conflicting classifications of pathogenicity
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS1316310273
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Luscan-Lumish syndrome
Health Risk
RS1348411642
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
Health Risk
RS137871492
Conflicting classifications of pathogenicity
Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
Health Risk
All Variants (123)
RSID Category Clinical Significance Conditions
RS1553691550 Drug Response drug response Wee1 Inhibitor response, Wee1 Inhibitor response
RS1015887716 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1024384980 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS114527197 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Rabin-Pappas syndrome, Intellectual developmental disorder
RS115156486 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS115788094 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS115859828 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
RS1162661952 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1162711197 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1316310273 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1348411642 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS137871492 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS139016283 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS1398213134 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS141852778 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS1429220590 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS143991928 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, SETD2-related disorder
RS144677816 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS145499611 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS145650484 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
RS146894026 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS146911485 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS1482249689 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Inborn genetic diseases
RS149265978 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1553699111 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS191985301 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
RS192262279 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Rabin-Pappas syndrome, Intellectual developmental disorder
RS199739297 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome, Inborn genetic diseases
RS2039539616 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS2040370171 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2041416610 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS2042210578 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
RS2043131227 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS2043221625 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2106683989 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545662505 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Intellectual developmental disorder, autosomal dominant 70
RS367547253 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome, Inborn genetic diseases
RS367601805 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS368132877 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS368465960 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS369421455 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS369951554 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder, Luscan-Lumish syndrome
RS372092336 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS372521251 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS374799616 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS377115716 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS538871720 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome, Inborn genetic diseases
RS541943893 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome, SETD2-related disorder
RS573301881 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome
RS575862721 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
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