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] See more...

Aliases for DPY19L2 Gene

Aliases for DPY19L2 Gene

  • Dpy-19 Like 2 2 3 5
  • Probable C-Mannosyltransferase DPY19L2 3 4
  • Spermatogenesis Associated 34 2 3
  • Protein Dpy-19 Homolog 2 3 4
  • SPATA34 2 3
  • Dpy-19 Like 2 (C. Elegans) 2
  • Dpy-19-Like Protein 2 4
  • EC 2.4.1.- 4
  • FLJ32949 2
  • DPY19L2 5
  • 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. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for DPY19L2 Gene

Genomics for DPY19L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPY19L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPY19L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPY19L2

Top Transcription factor binding sites by QIAGEN in the DPY19L2 gene promoter:
  • c-Myb
  • Evi-1
  • FOXO4
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a

Genomic Locations for DPY19L2 Gene

Genomic Locations for DPY19L2 Gene
chr12:63,558,913-63,669,201
(GRCh38/hg38)
Size:
110,289 bases
Orientation:
Minus strand
chr12:63,952,693-64,062,719
(GRCh37/hg19)
Size:
110,027 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
    SequenceCaution:
    • Sequence=AAI25216.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI25217.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    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.

    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

Gene Families for DPY19L2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DPY19L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPY19L2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59600, moderately similar to Mus musculus dpy-19-like 1 (C. elegans) (Dpy19l1), mRNA (B4E191_HUMAN)
  • Dpy-19-like protein 2 (D19L2_HUMAN)

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

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

Phenotypes From GWAS Catalog for DPY19L2 Gene

Gene Ontology (GO) - Molecular Function for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPY19L2

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 4
plasma membrane 3
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPY19L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005637 nuclear inner membrane IEA,IBA 21873635
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

PathCards logo

SuperPathways for DPY19L2 Gene

No Data Available

Interacting Proteins for DPY19L2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
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 IEA,IMP 21397063
GO:0018406 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan IBA 21873635
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

Drugs & Compounds for DPY19L2 Gene

No Compound Related Data Available

Transcripts for DPY19L2 Gene

mRNA/cDNA for DPY19L2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPY19L2

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

No ASD Table

Relevant External Links for DPY19L2 Gene

GeneLoc Exon Structure for
DPY19L2

Expression for DPY19L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPY19L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Kidney(4.4)
  • Nervous system(4.4)

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

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

Primer Products

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 30 31
  • 99.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DPY19L2 30 31
  • 89.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC524676 30
  • 84.61 (n)
DPY19L2 31
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dpy19l2 30 17 31
  • 82.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dpy19l2 30
  • 80.58 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DPY19L2 31
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DPY19L2 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 54 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 53 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii AL935296.1 31
  • 54 (a)
ManyToMany
dpy19l1l 31
  • 54 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dpy-19 31
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9857 31
  • 45 (a)
OneToMany
Species where no ortholog for DPY19L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DPY19L2: view image

Paralogs for DPY19L2 Gene

Paralogs for DPY19L2 Gene

(4) SIMAP similar genes for DPY19L2 Gene using alignment to 7 proteins:

  • D19L2_HUMAN
  • B4E191_HUMAN
  • F5H0W1_HUMAN
  • F5H1L7_HUMAN
  • F5H4G6_HUMAN
  • F5H5T7_HUMAN
  • H0YF77_HUMAN
genes like me logo Genes that share paralogs with DPY19L2: view

Variants for DPY19L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPY19L2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
712121 Benign: not provided 63,668,102(-) C/A NONSENSE
715043 Likely Benign: not provided 63,668,366(-) G/A MISSENSE_VARIANT
720483 Likely Benign: not provided 63,617,294(-) A/C INTRON_VARIANT
783667 Likely Benign: not provided 63,594,097(-) T/A MISSENSE_VARIANT
rs147579680 Pathogenic: Spermatogenic failure 9 63,624,124(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DPY19L2 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
spermatogenic failure 9
  • globozoospermia
spermatogenic failure 6
  • spgf6
infertility
spermatogenic failure 5
  • spgf5
male infertility
  • infertility male
- 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.

Additional Disease Information for 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 PF (American journal of human genetics 2011) 2 3 4
  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 HF … Gray A (Genome research 2003) 2 3 4
  3. DPY19L2 deletion as a major cause of globozoospermia. (PMID: 21397063) Koscinski I … Viville S (American journal of human genetics 2011) 3 4
  4. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. (PMID: 16526957) Carson AR … Scherer SW (BMC genomics 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DPY19L2 Gene

Sources for DPY19L2 Gene