Entity Details

Primary name DPY19L2
Entity type gene
Source Source Link

Details

PrimaryID283417
RefseqGeneNG_031909
SymbolDPY19L2
Namedpy-19 like 2
Chromosome12
Location12q14.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsD19L2_HUMAN

GO terms

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GOName
GO:0000030 mannosyltransferase activity
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0007275 multicellular organism development
GO:0007286 spermatid development
GO:0016021 integral component of membrane
GO:0018406 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan

Diseases

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Disease IDSourceNameDescription
613958 OMIMSpermatogenic failure 9 (SPGF9)An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. The disease is caused by variants affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
DPY19L2GUK1BioGRID, IntAct26186194 28514442 details