DPY19L2

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

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) Band 12q14.2 Start 63,558,913 bp End 63,668,939 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A4 Start 24,468,343 bp End 24,607,589 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 283417 320752 Ensembl ENSG00000177990 ENSMUSG00000085576 UniProt Q6NUT2 P0CW70 RefSeq (mRNA) NM_173812 NM_001166207 RefSeq (protein) NP_776173 NP_001159679 Location (UCSC) Chr 12: 63.56 – 63.67 Mb Chr 9: 24.47 – 24.61 Mb PubMed search
Wikidata
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Function

The C. elegans gene dpy-19 belongs to the dpy ("dumpy" phenotype) gene class and encodes DPY-19, transmembrane protein with C-linked mannosyltransferase activity. 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).

Further reading

• 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.