Entity Details

Primary name D19L2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6NUT2
EntryNameD19L2_HUMAN
FullNameProbable C-mannosyltransferase DPY19L2
TaxID9606
Evidenceevidence at protein level
Length758
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesDPY19L2

GO terms

Show/Hide Table
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

Subcellular Location

Show/Hide Table
Subcellular Location
Membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR018732 Dpy-19/Dpy-19-likeFamilyFamily
IPR030042 Probable C-mannosyltransferase DPY19L2FamilyFamily

Diseases

Show/Hide Table
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

0 interactions

InteractorPartnerSourcesPublicationsLink