SETD5

Also known as SET domain containing 5, MRD23, SETD5A

SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene. It is a member of the histone lysine methyltransferase family. Overexpression of SETD5 is associated positively with progression of breast cancer. Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23 (MRD23, MIM#615761). MRD23 is mainly characterized by variable congenital defects and dysmorphic facies. Clinical features include developmental delay, intellectual disability, chewing abnormalities, hypospadias, and cryptorchidism in males in associati

Gene data

SETD5

Name: SET domain containing 5
Type: protein-coding
Position: 9,397,609–9,479,240 (+)
Aliases: MRD23, SETD5A
Ensembl: ENSG00000168137
RefSeq RNA: NM_001080517.3, NM_001292043.2, NM_001349451.2, NM_001437633.1, NM_001437635.1
RefSeq protein: NP_001073986.1, NP_001278972.1, NP_001336380.1, NP_001424562.1, NP_001424564.1

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017].