DPY19L2

DPY19L2
Identifiers
Aliases	DPY19L2, SPATA34, SPGF9, dpy-19 like 2
External IDs	OMIM: 613893; MGI: 2444662; HomoloGene: 77569; GeneCards: DPY19L2; OMA:DPY19L2 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	63,668,939 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	24,607,589 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; popliteal artery; ; tibial arteries; ; right auricle; ; sperm; ; right testis; ; left ventricle; ; left testis; ; right ovary; ; left ovary;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; morula; ; embryo; ; secondary oocyte; ; primary oocyte; ; trigeminal ganglion; ; triceps brachii muscle; ; lobe of prostate;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; mannosyltransferase activity; glycosyltransferase activity;
Cellular component	integral component of membrane; nuclear inner membrane; membrane; nucleus;
Biological process	multicellular organism development; cell differentiation; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; spermatogenesis; spermatid development;
	Sources:Amigo / QuickGO
Orthologs
	283417
	320752
	ENSG00000177990
	ENSMUSG00000085576
	Q6NUT2
	P0CW70
	NM_173812
	NM_001166207
	NP_776173
	NP_001159679
	Wikidata
View/Edit Human	View/Edit Mouse

Dpy-19-like 2 (C. elegans) is a protein that in humans is encoded by the DPY19L2 gene.^[5]

Function

The C. elegans gene dpy-19 belongs to the dpy ("dumpy" phenotype)^[6] gene class and encodes DPY-19, transmembrane protein with C-linked mannosyltransferase activity.^[7]^[8] In humans, it is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177990 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000085576 – 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: Dpy-19-like 2 (C. elegans)".
^ "dumpy (phenotype)". wormbase.org. Retrieved 7 February 2023.
^ "dpy-19 (gene)". wormbase.org. Retrieved 7 February 2023.
^ "dpy-19". AceView. NCBI. Retrieved 7 February 2023.

Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF (March 2011). "A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation". American Journal of Human Genetics. 88 (3): 351–61. doi:10.1016/j.ajhg.2011.02.007. PMC 3059422. PMID 21397064.
Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF (August 2012). "MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia". Human Reproduction. 27 (8): 2549–58. doi:10.1093/humrep/des160. PMID 22627659.
Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S (August 2012). "Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots". Human Molecular Genetics. 21 (16): 3695–702. doi:10.1093/hmg/dds200. PMID 22653751.
Carson AR, Cheung J, Scherer SW (March 2006). "Duplication and relocation of the functional DPY19L2 gene within low copy repeats". BMC Genomics. 7: 45. doi:10.1186/1471-2164-7-45. PMC 1475853. PMID 16526957.
Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF (March 2013). "Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population". PLOS Genetics. 9 (3): e1003363. doi:10.1371/journal.pgen.1003363. PMC 3605140. PMID 23555282.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000177990 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000085576 – 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: Dpy-19-like 2 (C. elegans)".

[6] "dumpy (phenotype)". wormbase.org. Retrieved 7 February 2023.

[wormbase-7] "dpy-19 (gene)". wormbase.org. Retrieved 7 February 2023.

[aceview-8] "dpy-19". AceView. NCBI. Retrieved 7 February 2023.

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Function

References

Further reading