SETD5

SETD5
Identifiers
Aliases	SETD5, SET domain containing 5, MRD23, SETD5A
External IDs	OMIM: 615743 MGI: 1920145 HomoloGene: 12485 GeneCards: SETD5
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
	sural nerve; ; right uterine tube; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; gastric mucosa; ; Achilles tendon; ; canal of the cervix; ; minor salivary gland; ; body of pancreas; ; vagina;
	Top expressed in
	hand; ; ascending aorta; ; aortic valve; ; vas deferens; ; pineal gland; ; otolith organ; ; superior frontal gyrus; ; utricle; ; supraoptic nucleus; ; lip;
	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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034269 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: SET domain containing 5". Retrieved 2013-10-07.
↑ L. Liu, S. Kimball, H. Liu, A. Holowatyj, Z.Q. Yang (2015). Genetic alterations of histone lysine methyltransferases and their significance in breast cancer, Oncotarget, 6, pp. 2466-2482. https://doi.org/10.18632/oncotarget.2967
↑ Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M. J., Archer, H., Firth, H. V., Park, S. M., Canham, N., Holder, S. E., Wilson, M., Hackett, A., Field, M., Floyd, J. A., UK10K Consortium, Hurles, M., & Raymond, F. L. (2014). De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics, 94, 618–624. https://doi.org/10.1016/j.ajhg.2014.03.006

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034269 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SET domain containing 5". Retrieved 2013-10-07.

[6] L. Liu, S. Kimball, H. Liu, A. Holowatyj, Z.Q. Yang (2015). Genetic alterations of histone lysine methyltransferases and their significance in breast cancer, Oncotarget, 6, pp. 2466-2482. https://doi.org/10.18632/oncotarget.2967

[7] Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M. J., Archer, H., Firth, H. V., Park, S. M., Canham, N., Holder, S. E., Wilson, M., Hackett, A., Field, M., Floyd, J. A., UK10K Consortium, Hurles, M., & Raymond, F. L. (2014). De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics, 94, 618–624. https://doi.org/10.1016/j.ajhg.2014.03.006

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