Basic Information

Symbol
SETD2
RNA class
mRNA
Alias
SET Domain Containing 2, Histone Lysine Methyltransferase HIF-1 KMT3A HYPB KIAA1732 Histone-Lysine N-Methyltransferase SETD2 Protein-Lysine N-Methyltransferase SETD2 Huntingtin-Interacting Protein B Lysine N-Methyltransferase 3A Huntingtin Yeast Partner B FLJ23184 P231HBP HIP-1 SET2 Huntingtin Interacting Protein 1 Huntingtin-Interacting Protein 1 SET Domain-Containing Protein 2 SET Domain Containing 2 EC 2.1.1.359 EC 2.1.1.43 EC 2.1.1.- HSPC069 HBP231 MRD70 RAPAS HSET2 HIF1 LLS
Location (GRCh38)
3:47016428-47164113
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_014159.7
Sequence length
8541.0 nt
GC content
0.4357

Transcripts

ID Sequence Length GC content
NM_001349370.3 NCBI
AGAGAGCGGCUGGCGGGCGUCCGAGGGAGGGAGGGAGCGACGAGCGAGG… 8525 nt 0.4359
NM_014159.7 NCBI
AGAGAGCGGCUGGCGGGCGUCCGAGGGAGGGAGGGAGCGACGAGCGAGG… 8541 nt 0.4357
Summary

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] CIViC Summary for SETD2 Gene

Forensic Context

No relevant information is available at the moment.