DPY19L2

DPY19L2
Identifiers
AliasesDPY19L2, SPATA34, SPGF9, dpy-19 like 2
External IDsMGI: 2444662 HomoloGene: 77569 GeneCards: DPY19L2
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q14.2Start63,558,913 bp[1]
End63,668,939 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 9: 24.56 – 24.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

The protein encoded by this gene belongs to the dpy-19 (developmental pluripotancy-associated) family. 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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000177990 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000085576 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: Dpy-19-like 2 (C. elegans)".

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.


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