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)[1]
End	9,479,240 bp[1]
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[2]
End	113,153,435 bp[2]
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.

Model organisms

Model organisms have been used in the study of SETD5 function. A conditional knockout mouse line called Setd5^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

*Setd5* knockout mouse phenotype
Characteristic	Phenotype
All data available at.[9][14]
Insulin	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Abnormal
General Observations	Abnormal
Body weight	Abnormal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Abnormal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Abnormal
Micronucleus test	Abnormal
Heart weight	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, May 2017
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
Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
"International Mouse Phenotyping Consortium".
Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
"Infection and Immunity Immunophenotyping (3i) Consortium".

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

[refGRCm38Ensembl-2] 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

[mgp_reference-8] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[IMPCsearch_ref-9] "International Mouse Phenotyping Consortium".

[pmid21677750-10] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-11] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-12] Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid23870131-13] White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.

[iii_ref-14] "Infection and Immunity Immunophenotyping (3i) Consortium".