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Aliases for DPY19L2 Gene

Aliases for DPY19L2 Gene

  • Dpy-19 Like 2 2 3 5
  • Spermatogenesis Associated 34 2 3
  • Protein Dpy-19 Homolog 2 3 4
  • Probable C-Mannosyltransferase DPY19L2 3
  • Dpy-19 Like 2 (C. Elegans) 2
  • Dpy-19-Like Protein 2 4
  • EC 2.4.1.- 4
  • SPATA34 3
  • SPGF9 3

External Ids for DPY19L2 Gene

Previous GeneCards Identifiers for DPY19L2 Gene

  • GC12M062239
  • GC12M063952

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) is a Protein Coding gene. Diseases associated with DPY19L2 include Spermatogenic Failure 9 and Spermatogenic Failure 6. GO annotations related to this gene include transferase activity, transferring glycosyl groups and mannosyltransferase activity. An important paralog of this gene is DPY19L1.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPY19L2 Gene

Genomics for DPY19L2 Gene

Regulatory Elements for DPY19L2 Gene

Enhancers for DPY19L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G063667 1 ENCODE 23.6 +0.6 588 1.8 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF263 SP3 YY2 ZNF610 RFX3 DPY19L2 LOC100418730 PIR41174
GH12G063913 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -249.2 -249193 10.6 PKNOX1 FOXA2 ARNT SIN3A FEZF1 BRCA1 ZNF2 GATA2 FOS SP3 ENSG00000255629 ENSG00000255886 RNU6-1009P DPY19L2 SRGAP1 LOC100419700 GC12P063998
GH12G063860 1.2 Ensembl ENCODE 4.8 -193.6 -193602 4.1 PKNOX1 FOXA2 NFIB SIN3A FEZF1 DMAP1 RAD21 RARA RFX5 SCRT2 PABPC1P4 DPY19L2 RPL36AP41 SRGAP1
GH12G064130 0.8 FANTOM5 4.8 -461.4 -461395 0.1 ZFP64 ZNF266 ZNF101 ZNF697 ZNF138 ZNF426 REST ZNF394 ZNF518A ZNF781 PABPC1P4 DPY19L2 C12orf56 LOC105369798 GC12P064147
GH12G062940 0.5 dbSUPER 4.6 +727.0 726989 3.4 SCRT1 PRDM6 SCRT2 LOC100506911 DPY19L2 ENSG00000252660 RPL14P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DPY19L2 on UCSC Golden Path with GeneCards custom track

Promoters for DPY19L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053074 800 2000 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF263 SP3 ZNF610 RFX3 GLIS1

Genomic Location for DPY19L2 Gene

Chromosome:
12
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

Genes around DPY19L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPY19L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPY19L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for DPY19L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DPY19L2 Gene

Domains & Families 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 :
  • Belongs to the dpy-19 family.
Family:
  • Belongs to the dpy-19 family.
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:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with DPY19L2: view
genes like me logo Genes that share phenotypes with DPY19L2: view

Human Phenotype Ontology for DPY19L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPY19L2 Gene

MGI Knock Outs for DPY19L2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DPY19L2

CRISPR Products

miRNA for DPY19L2 Gene

miRTarBase miRNAs that target DPY19L2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPY19L2 gene
Compartment Confidence
nucleus 5
plasma membrane 3
golgi apparatus 2
cytoskeleton 1
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 IEA,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DPY19L2: view

Pathways & Interactions for DPY19L2 Gene

SuperPathways for DPY19L2 Gene

No Data Available

Interacting Proteins for DPY19L2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000315988%0d%0a9606.ENSP00000355689%0d%0a
Selected Interacting proteins: ENSP00000315988 Q6NUT2-D19L2_HUMAN for DPY19L2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development IMP,IEA 21397063
GO:0018406 protein C-linked glycosylation via 2-alpha-mannosyl-L-tryptophan IBA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DPY19L2: view

No data available for Pathways by source and SIGNOR curated interactions for DPY19L2 Gene

Transcripts for DPY19L2 Gene

Unigene Clusters for DPY19L2 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DPY19L2 Gene

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

This gene is overexpressed in Heart - Left Ventricle (x4.3) and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for DPY19L2 Gene

This gene is overexpressed in Testis (46.8) and Heart (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPY19L2 Gene



Protein tissue co-expression partners for DPY19L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DPY19L2 Gene:

DPY19L2

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).

Evidence on tissue expression from TISSUES for DPY19L2 Gene

  • Nervous system(4.3)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPY19L2 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with DPY19L2: view

Primer Products

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 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia DPY19L2 34 35
  • 89.3 (n)
cow
(Bos Taurus)
Mammalia LOC524676 34
  • 84.61 (n)
DPY19L2 35
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpy19l2 34 16 35
  • 82.54 (n)
rat
(Rattus norvegicus)
Mammalia Dpy19l2 34
  • 80.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPY19L2 35
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPY19L2 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii AL935296.1 35
  • 54 (a)
ManyToMany
dpy19l1l 35
  • 54 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-19 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9857 35
  • 45 (a)
OneToMany
Species where no ortholog for DPY19L2 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs147579680 Pathogenic 63,624,124(+) TCACA(C/T)GGGTG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587777205 Pathogenic 63,569,312(+) AGATT(A/G/T)TCGAC intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs587777206 Pathogenic 63,624,101(+) TTCAC(A/G)GAGAG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs751879424 Pathogenic 63,617,339(+) AGAAG(-/A)TAAGT nc-transcript-variant, reference, frameshift-variant
rs868256749 Pathogenic 63,617,303(+) ACTTA(C/T)CCACG splice-donor-variant

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

Variant ID Type Subtype PubMed ID
dgv1516n100 CNV gain 25217958
dgv1517n100 CNV gain 25217958
dgv1518n100 CNV gain+loss 25217958
dgv1519n100 CNV loss 25217958
dgv1520n100 CNV gain 25217958
dgv190e201 CNV deletion 23290073
dgv201n27 CNV gain 19166990
dgv202n27 CNV gain 19166990
dgv203n27 CNV loss 19166990
dgv204n27 CNV loss 19166990
dgv2675n54 CNV gain 21841781
dgv2676n54 CNV gain 21841781
dgv2677n54 CNV gain+loss 21841781
dgv2678n54 CNV loss 21841781
dgv2679n54 CNV loss 21841781
dgv2680n54 CNV loss 21841781
dgv2681n54 CNV loss 21841781
dgv279e214 CNV loss 21293372
dgv297e199 CNV deletion 23128226
dgv71e55 CNV gain 17911159
esv24108 CNV gain 19812545
esv2422401 CNV duplication 17116639
esv2751110 CNV gain 17911159
esv2751111 CNV loss 17911159
esv2759905 CNV gain 17122850
esv2760264 CNV gain 21179565
esv2761010 CNV gain+loss 21179565
esv33383 CNV gain+loss 17666407
esv3629757 CNV gain 21293372
esv3892208 CNV gain+loss 25118596
nsv1037700 CNV gain 25217958
nsv1046836 CNV gain 25217958
nsv1160039 OTHER complex 26073780
nsv436142 CNV deletion 17901297
nsv436145 CNV deletion 17901297
nsv442273 CNV gain 18776908
nsv469424 CNV gain 19166990
nsv469452 CNV gain 19166990
nsv470300 CNV gain 18288195
nsv516374 CNV gain+loss 19592680
nsv559166 CNV gain+loss 21841781
nsv559174 CNV loss 21841781
nsv559175 CNV loss 21841781
nsv559177 CNV gain 21841781
nsv559188 CNV gain 21841781
nsv559194 CNV loss 21841781
nsv559197 CNV gain 21841781
nsv559198 CNV gain 21841781
nsv745 CNV insertion 18451855
nsv832440 CNV loss 17160897
nsv8983 CNV gain 18304495
nsv973081 CNV duplication 23825009
nsv973082 CNV duplication 23825009
nsv973083 CNV duplication 23825009
nsv983339 CNV duplication 23825009

Variation tolerance for DPY19L2 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.54; 94.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPY19L2 Gene

Human Gene Mutation Database (HGMD)
DPY19L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPY19L2

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

Disorders for DPY19L2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DPY19L2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 9
  • spgf9
spermatogenic failure 6
  • spermatogenic failure 9
male reproductive system disease
  • genital diseases, male
pelvic varices
infertility
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for DPY19L2

Genetic Association Database (GAD)
DPY19L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPY19L2
genes like me logo Genes that share disorders with DPY19L2: view

No data available for Genatlas for DPY19L2 Gene

Publications for DPY19L2 Gene

  1. 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) 2 3 4 64
  2. 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 64
  3. DPY19L2 deletion as a major cause of globozoospermia. (PMID: 21397063) Koscinski I. … Viville S. (Am. J. Hum. Genet. 2011) 3 4 64
  4. 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 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for DPY19L2 Gene

Sources for DPY19L2 Gene

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