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Aliases for DPY19L2 Gene

Aliases for DPY19L2 Gene

  • Dpy-19-Like 2 (C. Elegans) 2 3
  • Spermatogenesis Associated 34 2 3
  • Protein Dpy-19 Homolog 2 3 4
  • SPGF9 3 6
  • Probable C-Mannosyltransferase DPY19L2 3
  • Dpy-19-Like Protein 2 4
  • EC 2.4.1.- 4
  • SPATA34 3

External Ids for DPY19L2 Gene

Summaries for DPY19L2 Gene

Entrez Gene Summary for DPY19L2 Gene

  • The protein encoded by this gene belongs to the dpy-19 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). [provided by RefSeq, Dec 2011]

GeneCards Summary for DPY19L2 Gene

DPY19L2 (Dpy-19-Like 2 (C. Elegans)) is a Protein Coding gene. Diseases associated with DPY19L2 include spermatogenic failure 9 and male infertility due to globozoospermia. GO annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is DPY19L4.

UniProtKB/Swiss-Prot for DPY19L2 Gene

  • Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPY19L2 Gene

Genomics for DPY19L2 Gene

Genomic Location for DPY19L2 Gene

Start:
63,558,913 bp from pter
End:
63,669,201 bp from pter
Size:
110,289 bases
Orientation:
Minus strand

Genomic View for DPY19L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DPY19L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPY19L2 Gene

Regulatory Elements for DPY19L2 Gene

Proteins for DPY19L2 Gene

  • Protein details for DPY19L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUT2-D19L2_HUMAN
    Recommended name:
    Probable C-mannosyltransferase DPY19L2
    Protein Accession:
    Q6NUT2
    Secondary Accessions:
    • A4FVC1
    • B4E191
    • Q3ZCX2
    • Q6UWG8
    • Q96LZ9

    Protein attributes for DPY19L2 Gene

    Size:
    758 amino acids
    Molecular mass:
    87374 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • It has been suggested that DPY19L2P1 is an inactive pseudogene from which DPY19L2 has evolved by duplication. However, expressed transcript sequences derived from the DPY19L2P1 locus are known to exist
    SequenceCaution:
    • Sequence=AAI25216.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI25217.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DPY19L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPY19L2 Gene

Proteomics data for DPY19L2 Gene at MOPED

Post-translational modifications for DPY19L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DPY19L2 Gene

No data available for DME Specific Peptides for DPY19L2 Gene

Domains for DPY19L2 Gene

Protein Domains for DPY19L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPY19L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NUT2

UniProtKB/Swiss-Prot:

D19L2_HUMAN
Family:
  • Belongs to the dpy-19 family.:
    • Q6NUT2
genes like me logo Genes that share domains with DPY19L2: view

No data available for Gene Families for DPY19L2 Gene

Function for DPY19L2 Gene

Molecular function for DPY19L2 Gene

UniProtKB/Swiss-Prot Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation.

Enzyme Numbers (IUBMB) for DPY19L2 Gene

Gene Ontology (GO) - Molecular Function for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IBA --
GO:0016757 transferase activity, transferring glycosyl groups --
genes like me logo Genes that share ontologies with DPY19L2: view

Phenotypes for DPY19L2 Gene

MGI mutant phenotypes for DPY19L2:
inferred from 1 alleles
GenomeRNAi human phenotypes for DPY19L2:
genes like me logo Genes that share phenotypes with DPY19L2: view

Animal Models for DPY19L2 Gene

MGI Knock Outs for DPY19L2:

miRNA for DPY19L2 Gene

miRTarBase miRNAs that target DPY19L2

No data available for Transcription Factor Targeting and HOMER Transcription for DPY19L2 Gene

Localization for DPY19L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPY19L2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPY19L2 Gene COMPARTMENTS Subcellular localization image for DPY19L2 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005637 nuclear inner membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DPY19L2: view

Pathways for DPY19L2 Gene

SuperPathways for DPY19L2 Gene

No Data Available

Interacting Proteins for DPY19L2 Gene

Gene Ontology (GO) - Biological Process for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
GO:0007286 spermatid development IMP 21397063
GO:0008152 metabolic process --
GO:0018406 protein C-linked glycosylation via 2-alpha-mannosyl-L-tryptophan IBA --
genes like me logo Genes that share ontologies with DPY19L2: view

No data available for Pathways by source for DPY19L2 Gene

Transcripts for DPY19L2 Gene

Unigene Clusters for DPY19L2 Gene

Dpy-19-like 2 (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DPY19L2 Gene

No ASD Table

Relevant External Links for DPY19L2 Gene

GeneLoc Exon Structure for
DPY19L2
ECgene alternative splicing isoforms for
DPY19L2

Expression for DPY19L2 Gene

mRNA expression in normal human tissues for DPY19L2 Gene

mRNA differential expression in normal tissues according to GTEx for DPY19L2 Gene

This gene is overexpressed in Heart - Left Ventricle (4.3) and Artery - Tibial (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for DPY19L2 Gene

SOURCE GeneReport for Unigene cluster for DPY19L2 Gene Hs.533644

mRNA Expression by UniProt/SwissProt for DPY19L2 Gene

Q6NUT2-D19L2_HUMAN
Tissue specificity: Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at protein level).
genes like me logo Genes that share expressions with DPY19L2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DPY19L2 Gene

Orthologs for DPY19L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DPY19L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPY19L2 35
  • 99.25 (n)
  • 99.21 (a)
DPY19L2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DPY19L2 36
  • 78 (a)
OneToOne
LOC524676 35
  • 84.61 (n)
  • 80.4 (a)
dog
(Canis familiaris)
Mammalia DPY19L2 35
  • 89.3 (n)
  • 86.65 (a)
DPY19L2 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpy19l2 35
  • 82.54 (n)
  • 78.72 (a)
Dpy19l2 16
Dpy19l2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPY19L2 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPY19L2 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpy19l2 35
  • 80.58 (n)
  • 77.47 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii AL935296.1 36
  • 54 (a)
ManyToMany
dpy19l1l 36
  • 54 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-19 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9857 36
  • 45 (a)
OneToMany
Species with no ortholog for DPY19L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DPY19L2 Gene

ENSEMBL:
Gene Tree for DPY19L2 (if available)
TreeFam:
Gene Tree for DPY19L2 (if available)

Paralogs for DPY19L2 Gene

Paralogs for DPY19L2 Gene

Selected SIMAP similar genes for DPY19L2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DPY19L2: view

Variants for DPY19L2 Gene

Sequence variations from dbSNP and Humsavar for DPY19L2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs366488 -- 63,631,534(-) ggtct(A/G)ttcag intron-variant
rs496917 -- 63,661,565(-) TTTCA(A/G)AAAAA intron-variant
rs565018 -- 63,661,483(-) AAAAA(A/G)GGGAC splice-acceptor-variant
rs1052363 -- 63,559,028(-) AAATA(G/T)TTTAA utr-variant-3-prime, nc-transcript-variant
rs1052365 -- 63,558,965(-) GTACA(A/T)ATATA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for DPY19L2 Gene

Variant ID Type Subtype PubMed ID
esv2422401 CNV Duplication 17116639
nsv832440 CNV Loss 17160897
dgv201n27 CNV Gain 19166990
essv25168 CNV CNV 17122850
dgv517e1 CNV Complex 17122850
dgv71e55 CNV Gain 17911159
nsv899168 CNV Loss 21882294
dgv1435n71 CNV Gain 21882294
dgv1436n71 CNV Gain 21882294
nsv516374 CNV Gain+Loss 19592680
nsv899171 CNV Loss 21882294
nsv436145 CNV Deletion 17901297
esv33383 CNV Gain+Loss 17666407
nsv899172 CNV Gain 21882294
dgv1437n71 CNV Gain 21882294
dgv1438n71 CNV Gain+Loss 21882294
dgv209e201 CNV Deletion 23290073
nsv8983 CNV Gain 18304495
nsv442273 CNV CNV 18776908
esv2751110 CNV Gain 17911159
nsv470300 CNV Gain 18288195
nsv469424 CNV Gain 19166990
dgv202n27 CNV Gain 19166990
dgv203n27 CNV Loss 19166990
dgv1439n71 CNV Loss 21882294
dgv297e199 CNV Deletion 23128226
esv24108 CNV Gain 19812545
esv2751111 CNV Loss 17911159
essv18897 CNV CNV 17122850
nsv899200 CNV Loss 21882294
nsv436142 CNV Deletion 17901297
dgv1440n71 CNV Gain 21882294
dgv204n27 CNV Loss 19166990
nsv469452 CNV Gain 19166990
dgv1441n71 CNV Gain+Loss 21882294
nsv745 CNV Insertion 18451855
nsv899204 CNV Gain 21882294

Relevant External Links for DPY19L2 Gene

HapMap Linkage Disequilibrium report
DPY19L2
Human Gene Mutation Database (HGMD)
DPY19L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPY19L2 Gene

Disorders for DPY19L2 Gene

(1) OMIM Diseases for DPY19L2 Gene (613893)

UniProtKB/Swiss-Prot

D19L2_HUMAN
  • Spermatogenic failure 9 (SPGF9) [MIM:613958]: 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. {ECO:0000269 PubMed:21397063, ECO:0000269 PubMed:21397064}. Note=The disease is caused by mutations affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.

(2) University of Copenhagen DISEASES for DPY19L2 Gene

Relevant External Links for DPY19L2

Genetic Association Database (GAD)
DPY19L2
genes like me logo Genes that share disorders with DPY19L2: view

Publications for DPY19L2 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. (PMID: 16526957) Carson A.R. … Scherer S.W. (BMC Genomics 2006) 3 4
  4. DPY19L2 deletion as a major cause of globozoospermia. (PMID: 21397063) Koscinski I. … Viville S. (Am. J. Hum. Genet. 2011) 3 4
  5. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. (PMID: 21397064) Harbuz R. … Ray P.F. (Am. J. Hum. Genet. 2011) 3 4

Products for DPY19L2 Gene

Sources for DPY19L2 Gene

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