DPY19L2

DPY19L2

Identifiers

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)^[1]

Band	12q14.2	Start	63,558,913 bp^[1]
Band	12q14.2	End	63,668,939 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9\|9 A4	Start	24,468,343 bp^[2]
Band	9\|9 A4	End	24,607,589 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

popliteal artery

sperm

left ventricle

left lobe of thyroid gland

right lobe of thyroid gland

right uterine tube

anterior pituitary

right coronary artery

left coronary artery

canal of the cervix

Top expressed in

spermatocyte

spermatid

seminiferous tubule

morula

secondary oocyte

trigeminal ganglion

triceps brachii muscle

islet of Langerhans

preoptic area

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

^[3]

^[4]

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.

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This page was last edited on 3 December 2023, at 01:50

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Function

References

Further reading