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SETD5

From Wikipedia, the free encyclopedia
SETD5
Identifiers
AliasesSETD5, SET domain containing 5, MRD23, SETD5A
External IDsOMIM: 615743; MGI: 1920145; HomoloGene: 12485; GeneCards: SETD5; OMA:SETD5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080517
NM_001292043
NM_018187
NM_001349451

NM_028385
NM_173005

RefSeq (protein)

NP_001073986
NP_001278972
NP_001336380

NP_082661
NP_766593

Location (UCSC)Chr 3: 9.4 – 9.48 MbChr 6: 113.08 – 113.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168137Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034269Ensembl, 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.
  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