SETD2 Chromosome 3
SET domain containing 2, histone lysine methyltransferase
Upload your DNA to see your personal genotypes for variants in SETD2.
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 |
|---|---|---|---|
| RS587778677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Rabin-Pappas syndrome, Intellectual developmental disorder |
| RS745846357 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS746219041 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS749621716 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS751707090 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS757035494 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS76132393 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Congenital portosystemic shunt, SETD2-related disorder |
| RS762132169 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS764195998 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, SETD2-related disorder |
| RS768072239 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Rabin-Pappas syndrome |
| RS768564000 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS768944836 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Rabin-Pappas syndrome, Intellectual developmental disorder |
| RS769791652 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS771203643 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS772334379 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS772906890 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS773221585 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS774644234 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS775780402 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Luscan-Lumish syndrome, Inborn genetic diseases |
| RS777992018 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS779483918 | Health Risk | Conflicting classifications of pathogenicity | Luscan-Lumish syndrome, Inborn genetic diseases, Luscan-Lumish syndrome |
| RS918252164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064794751 | Health Risk | Likely pathogenic | — |
| RS1064795661 | Health Risk | Likely pathogenic | — |
| RS1293916143 | Health Risk | Likely pathogenic | Acute megakaryoblastic leukemia without down syndrome, Acute megakaryoblastic leukemia without down syndrome |
| RS2043042281 | Health Risk | Likely pathogenic | Acute megakaryoblastic leukemia without down syndrome, Acute megakaryoblastic leukemia without down syndrome |
| RS2106710726 | Health Risk | Likely pathogenic | SETD2-related disorder, Luscan-Lumish syndrome, SETD2-related disorder |
| RS2107651840 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2107674146 | Health Risk | Likely pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS2107738780 | Health Risk | Likely pathogenic | — |
| RS2545519137 | Health Risk | Likely pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS2545607420 | Health Risk | Likely pathogenic | — |
| RS2545640830 | Health Risk | Likely pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS2545648723 | Health Risk | Likely pathogenic | SETD2-related disorder, SETD2-related disorder |
| RS774671060 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS934035500 | Health Risk | Likely pathogenic | SETD2-related disorder, SETD2-related disorder |
| RS1057518410 | Health Risk | Pathogenic | Neoplasm, Neoplasm |
| RS1553699115 | Health Risk | Pathogenic | Inborn genetic diseases, Neoplasm, Inborn genetic diseases |
| RS1553700642 | Health Risk | Pathogenic | — |
| RS1559634490 | Health Risk | Pathogenic | — |
| RS1575744958 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS1575818503 | Health Risk | Pathogenic | — |
| RS2041433287 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Thyroid cancer, nonmedullary |
| RS2043056964 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS2043155739 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2043159037 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Neoplasm, Luscan-Lumish syndrome |
| RS2043195907 | Health Risk | Pathogenic | — |
| RS2106642261 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2106689406 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS2107575654 | Health Risk | Pathogenic | Luscan-Lumish syndrome, Luscan-Lumish syndrome |