DPY19L2
Dpy-19 Like 2 (C. elegans)
Gene Information Card
| Symbol | DPY19L2 |
|---|---|
| Full Name | Dpy-19 Like 2 (C. elegans) |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 283629 ncbi.nlm.nih.gov/gene/283629 |
| Ensembl ID | ENSG00000174469 |
| UniProt ID | Q6ZPD8 |
| OMIM ID | 613893 |
| HGNC ID | 28300 |
| Aliases | dpy-19-like 2, FLJ37099 |
Description
DPY19L2 encodes a transmembrane protein essential for acrosome formation during spermatogenesis. Loss-of-function mutations in this gene are a major cause of autosomal recessive globozoospermia, a condition characterized by round-headed spermatozoa lacking an acrosome, leading to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Globozoospermia | Loss of DPY19L2 disrupts acrosome biogenesis and nuclear elongation during spermatid differentiation. | Multiple studies; OMIM #613893; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Ovary | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Key role in spermatogenesis |
| HEK293 | Low | Minimal endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.139C>T (p.Gln47*) | Nonsense | Rare | Premature truncation |
| c.848_849del (p.Glu283Glyfs*12) | Frameshift | Rare | Loss of function |
| Whole gene deletion | Copy number loss | Most common in globozoospermia | Complete loss of DPY19L2 |
Mutation functional classification
Loss of Function (LOF)
Majority of reported mutations lead to loss of DPY19L2 function, causing globozoospermia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • spermatid development (GO:0007286) | • sperm chromatin condensation (GO:0035092) |
| • integral component of membrane (GO:0016021) | • acrosomal vesicle (GO:0001669) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
DPY19L2 is a multi-pass transmembrane protein localized to the inner nuclear membrane of spermatids. It is critical for acrosome attachment to the nuclear envelope and subsequent nuclear elongation. Without functional DPY19L2, spermatids fail to form a proper acrosome, resulting in round-headed spermatozoa characteristic of globozoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPY19L2 Knockout HEK293 Cell Line | EDJ-KQ13209 | Human | 283417 | Details Get a Quote |
| DPY19L2 Knockout HeLa Cell Line | EDJ-KQ42577 | Human | 283417 | Details Get a Quote |
| DPY19L2 Knockout A-549 Cell Line | EDJ-KQ67861 | Human | 283417 | Details Get a Quote |
| DPY19L2 Knockout HCT 116 Cell Line | EDJ-KQ76242 | Human | 283417 | Details Get a Quote |
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