SETD5
Sign in to saveAlso 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
- Aliases
- MRD23, SETD5A
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].
via MyGene.info
Gene · Ensembl
SET domain containing 5
- Symbol
- SETD5
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:9,397,609-9,479,240
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 12485
- exact match
- identifiers.org/ncbigene/55209
- genomic end
- 9520924
- genomic start
- 9439299
- cytogenetic location
- 3p25.3
via Wikidata · CC0
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Article
1 sectionsContents
- References
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 association with craniofacial dysmorphisms.