SETD2 SET domain containing 2

Official Symbol SETD2 and Name: SET domain containing 2 [ Homo sapiens ]

Other Aliases: FLJ16420, FLJ22472, FLJ23184, FLJ45883, FLJ46217, HBP231, HIF-1, HSPC069, HYPB, KIAA1732, KMT3A, SET2, p231HBP, UniProtKB/Swiss-Prot Q9BYW2 (SETD2_HUMAN)

Other Designations: SET domain-containing protein 2; histone-lysine N-methyltransferase SETD2; huntingtin interacting protein 1; huntingtin yeast partner B; huntingtin-interacting protein B; lysine N-methyltransferase 3A

Chromosome: 3;

Location: 3p21.31

Annotation: Chromosome 3, NC_000003.10 (47032910..47140744, complement)

MIM: 612778

GeneID: 29072

Function:

This gene encodes a protein belonging to a class of huntingtin interacting proteins. This protein is a 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.(Text obtained from UniProt)

For more information check BackGround

Catalytic activity: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.

Subunit structure: Specifically interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Binds specifically to CTD heptad repeats doubly phosphorylated on 'Ser-2' and 'Ser-5' of each heptad. Interacts with HTT. Sequence similarities : Belongs to the histone-lysine methyltransferase family. SET2 subfamily.

Prediction of the Domains in the protein of SETD2

1: AWS DOMAIN (signature: IKRMQCECTPlskdeRAQGEIACGEDCLNRLLMIECSSR-CPNGDYCSNRRFQRKQ)

2: set domain ( signature: HADVEVILTEKKGWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHyYFMA

LKN-DEIIDATQKGNCSRFMNHSCEPNCETQKWTVNGQ-LRVGFFTTKLVPSGSELTFDY)

3- Post set domain: (Signature: EAQKCFCGSANCRGYLG)

4: WW domain (Signauture: IVLPPNWKTARDPEGKIYYYHVITRQTQWDPPTW)

Genomic regions, transcripts, and products :

Location:

chr3 (p21.31) p24.3 14.1 12.3 23 q24 26.1 28 q29

Browser View:

UCSC:

Ensembl:

Homology:

Genes identified as putative homologs of one another during the construction of HomoloGene.

Regulation of Setd2 gene :

The gene regulation is mainly focused here on the identifiation of core promoter.

The main paremtres sought in this connection are:

1- presence of CpG islands

2- Presense of tss sites

3- Presense of Transcription factor binding sites.

All these parametres were sough by using UCSC genome browser.

The 1.5KB Region is finally considered to be region around the TSS containing putitive Cis-elements.

chr3:47179794-47181340
CGCGGGCCCCTCCACGGCCCGGGGGCCAGGCAACCCGCGCTAGGCCCTTCCGGTCCGAGG
CGCCGCCGTCGCGGGGAGGTCGGGCGACGGGTCGAGCTTCCACCCGAGCCCGGGGATTCG
CGGCCTACCCTCACCGGCGCCCTCTTGCCGGGCCCGGCACCGGCAGCTCCTCCGACTCTG
CCCTTTGGCTAGCAGCGGGGCCCGGACGAGCCACGAGGAGCCCGAGAGGACCGCCGAGCC
CCGGGATGGCCGGGTCGGTGCGGACACGGCGGTAACCGTAGGGACCGTGGCCGCCCCTCC
CCCACCGGCCCGGCCCAACCGCCGCCGCGACACGAGCAGCGGCGCCAACGCCGGGCCCAA
CCGCGGGCCTGCTGCGGCCCCGGCCAAGCGGCTCGAAGTGGCGGCGCGGGCCTGCTCCCG
ACACCGACCGCGCGAGGCCACCGTGGGCCTGTTACTCCTCGCGCCGGCCCGCGCCGCCAC
CCGTCAGGACGCGCCGCCCTCGGCTGGGGATAAGGCGGCCGACAGCAGCGGGGGGCCGCG
GAGCTGATACTTACTCAGGGGTCGGGTGCTCCGGGTCGTAGAAATCCCCCATCTTCGGAG
GCGGCTGCGGCTGCAGCTGCTTCATCGGGAGCGGCTGGAGACGGCGACGCGAGCCCCCTC
CCCGCAGCAGGGCGACGCGGGGGAGGGGAGGGGAGGAGGCCGCAGGTCCGACCGCGGCGG
CGGCGGCGGCGGCGGCGGCGGCGGCAGGGGCGGCCCGCGTCGCTACCTCGCTCGTCGCTC
CCTCCCTCCCTCGGACGCCCGCCAGCCGCTCTCTCCCTCTCACCCTCACACCGGGAGCGA
CGCACACCCCACCCGCCCCTCAGCTTCGCAGGCCCGGCCCCTTAAAGAGACACACACGGG
CCACCGATCTGCCGCCAGTCGGCGTGCCTTGCAGCTGTTGGCTTGACCCCAGGCCGGGAC
GGGCAGAGCGGAACACTGCCCGGCGGGTCCAGGCCGACCGTGCCTGTGGCTCTCCGGAAC
AATAAACCCCCGGCCCCAGTGATGTGGGCCAGACCGGACCTGGAGAGGCGGCACCGCGAC
CCCTCCCGCAACCCGCCTGGCGGCCGGGGGCAGCGTGACCCGGCCCGCTACCGTGTCACA
GCTGGCGACTGACAAACAGCAGGCGACGTCGGGAGAACTCCCCGAGACACCCGAGACATC
AGCCTTCTCGCTCCGCGGCCCTGCAGGACCTGCCCGCCGGGAGCCCCGGAGTCCGCGGCA
GCGCCGAGGGCCCCTCCCCCAGGCCTCTGGGCTCTGAGGTAACGCGGCCGCGGCTGCTCC
CGGGCCCCTCGTCCCACTCGCCCCTCTCTTTTTTATTTTTCCTCGCCCTCTCTCTCCCTT
GCCCGTTCATCTCGACCCTTTAGCAAGCATGGAAGCCCAGCGAGGCGGGGGATTGCTCGG
AGGCCGAGCTCCCGGCAGCCTCCTCCGCCTTCCTTCCCGCTGTGCCCTCGGGGCTCCTAC
CTCCACCTCGGCGCGGCGCTCTGCCCCCACCCGAAGTCTCCAAGGCG

Vista genome browser results for SETD2 predicted promoter.

The predected TFs.