SETD5

SETD5
Identifiers
Aliases	SETD5, SET domain containing 5, MRD23, SETD5A
External IDs	OMIM: 615743; MGI: 1920145; HomoloGene: 12485; GeneCards: SETD5; OMA:SETD5 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	9,479,240 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	113,153,435 bp
RNA expression pattern
	Top expressed in
	epithelium of colon; ; sural nerve; ; right hemisphere of cerebellum; ; right uterine tube; ; right lobe of thyroid gland; ; ventricular zone; ; body of uterus; ; left lobe of thyroid gland; ; gastric mucosa; ; left ovary;
	Top expressed in
	genital tubercle; ; tail of embryo; ; hand; ; ascending aorta; ; aortic valve; ; vas deferens; ; ventricular zone; ; Rostral migratory stream; ; human fetus; ; pineal gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; histone methyltransferase activity (H3-K9 specific); methyltransferase activity; transferase activity; histone-lysine N-methyltransferase activity;
Cellular component	nucleus; Cdc73/Paf1 complex; nucleoplasm;
Biological process	regulation of histone acetylation; regulation of chromatin organization; transcription, DNA-templated; regulation of transcription, DNA-templated; chromatin organization; histone H3-K9 methylation; methylation; histone lysine methylation;
	Sources:Amigo / QuickGO
Orthologs
	55209
	72895
	ENSG00000168137
	ENSMUSG00000034269
	Q9C0A6
	Q5XJV7
	NM_001080517; NM_001292043; NM_018187; NM_001349451
	NM_028385; NM_173005
	NP_001073986; NP_001278972; NP_001336380
	NP_082661; NP_766593
	Wikidata
View/Edit Human	View/Edit Mouse

SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene. ^[5] It is a member of the histone lysine methyltransferase family. Overexpression of SETD5 is associated positively with progression of breast cancer.^[6] Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23 (MRD23, MIM#615761).^[7] 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.