Q9BYW2.3
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Histone-lysine N-methyltransferase SETD2
NCBI Official Synonym Full Names
SET domain containing 2
NCBI Official Synonym Symbols
LLS; HYPB; SET2; HIF-1; HIP-1; KMT3A; HBP231; HSPC069; p231HBP [Similar Products]
NCBI Protein Information
histone-lysine N-methyltransferase SETD2
UniProt Protein Name
Histone-lysine N-methyltransferase SETD2
UniProt Synonym Protein Names
HIF-1; Huntingtin yeast partner B; Huntingtin-interacting protein 1; HIP-1; Huntingtin-interacting protein B; Lysine N-methyltransferase 3A; SET domain-containing protein 2; hSET2; p231HBP
UniProt Synonym Gene Names
NCBI Summary for SETD2
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]
UniProt Comments for SETD2
SETD2: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. Belongs to the histone-lysine methyltransferase family. SET2 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine
Chromosomal Location of Human Ortholog: 3p21.31
Cellular Component: nucleoplasm
Molecular Function: histone lysine N-methyltransferase activity (H3-K36 specific); histone-lysine N-methyltransferase activity; protein binding
Biological Process: mismatch repair; RNA elongation from RNA polymerase II promoter
Disease: Luscan-lumish Syndrome
Research Articles on SETD2
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Pathways associated with anti-SETD2 antibody
Diseases associated with anti-SETD2 antibody
Organs/Tissues associated with anti-SETD2 antibody
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