ENSG00000177990


Homo sapiens

Features
Gene ID: ENSG00000177990
  
Biological name :DPY19L2
  
Synonyms : DPY19L2 / dpy-19 like 2 / Q6NUT2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q14.2
Gene start: 63558913
Gene end: 63668939
  
Corresponding Affymetrix probe sets: 230158_at (Human Genome U133 Plus 2.0 Array)   238784_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445878
Ensembl peptide - ENSP00000443126
Ensembl peptide - ENSP00000444932
Ensembl peptide - ENSP00000315988
Ensembl peptide - ENSP00000437474
Ensembl peptide - ENSP00000439567
NCBI entrez gene - 283417     See in Manteia.
OMIM - 613893
RefSeq - XM_017019205
RefSeq - XM_017019197
RefSeq - XM_017019198
RefSeq - XM_017019199
RefSeq - XM_017019201
RefSeq - XM_017019202
RefSeq - XM_017019203
RefSeq - XM_017019204
RefSeq - NM_173812
RefSeq - XM_006719352
RefSeq - XM_011538215
RefSeq - XM_011538218
RefSeq - XM_017019188
RefSeq - XM_017019189
RefSeq - XM_017019190
RefSeq - XM_017019191
RefSeq - XM_017019192
RefSeq - XM_017019193
RefSeq - XM_017019194
RefSeq - XM_017019195
RefSeq - XM_017019196
RefSeq Peptide - NP_776173
swissprot - F5H4G6
swissprot - F5H5T7
swissprot - F5H1L7
swissprot - F5H0W1
swissprot - Q6NUT2
swissprot - H0YF77
Ensembl - ENSG00000177990
  
Related genetic diseases (OMIM): 613958 - Spermatogenic failure 9, 613958
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dpy19l1lENSDARG00000069995Danio rerio
 ENSGALG00000038978Gallus gallus
 P0CW70ENSMUSG00000085576Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q2PZI1 / DPY19L1 / dpy-19 like C-mannosyltransferase 1ENSG0000017385259
Q6ZPD9 / DPY19L3 / dpy-19 like C-mannosyltransferase 3ENSG0000017890426
Q7Z388 / DPY19L4 / dpy-19 like 4ENSG0000015616223


Protein motifs (from Interpro)
Interpro ID Name
 IPR018732  Dpy-19/Dpy-19-like
 IPR030042  Probable C-mannosyltransferase DPY19L2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007286 spermatid development IEA
 biological_processGO:0018406 protein C-linked glycosylation via 2"-alpha-mannosyl-L-tryptophan IBA
 biological_processGO:0030154 cell differentiation IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005637 nuclear inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000030 mannosyltransferase activity IBA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0012205 Globozoospermia "Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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