PABPC1L2B: Poly(A) Binding Protein Cytoplasmic 1 Like 2B
A testis-specific poly(A)-binding protein gene with potential roles in spermatogenesis and male fertility.
Gene Information Card
| Symbol | PABPC1L2B |
|---|---|
| Full Name | Poly(A) Binding Protein Cytoplasmic 1 Like 2B |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 645979 ncbi.nlm.nih.gov/gene/645979 |
| Ensembl ID | ENSG00000214756 |
| UniProt ID | A6NKD9 |
| OMIM ID | 300964 |
| HGNC ID | 32420 |
| Aliases | PABPC1L2, PABPC1L2A |
Description
PABPC1L2B is a protein-coding gene located on the X chromosome. It encodes a member of the poly(A)-binding protein family, which binds to the poly(A) tail of mRNA and is involved in mRNA stability and translation initiation. Expression is predominantly in the testis, suggesting a specialized role in spermatogenesis. Mutations or dysregulation may contribute to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered mRNA binding or translation in germ cells may impair spermatogenesis. | Limited evidence from expression studies; no direct clinical association confirmed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (seminoma cell line) | 8.2 | Moderate expression |
| HEK293 | 0.5 | Low/background |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Val412Met) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • poly(A) binding (GO:0008143) |
| • regulation of translation (GO:0006417) | • cytoplasm (GO:0005737) |
Pathways
• mRNA surveillance pathway
• Translation regulation
Protein Summary
The PABPC1L2B protein is a cytoplasmic poly(A)-binding protein predominantly expressed in testis. It binds the poly(A) tail of mRNAs and likely regulates their stability and translation efficiency during spermatogenesis. Its testis-specific expression pattern suggests a specialized function in male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC1L2B Knockout HEK293 Cell Line | EDJ-KQ14664 | Human | 645974 | Details Get a Quote |
| PABPC1L2B Knockout HeLa Cell Line | EDJ-KQ60597 | Human | 645974 | Details Get a Quote |
| PABPC1L2B Knockout A-549 Cell Line | EDJ-KQ69067 | Human | 645974 | Details Get a Quote |
| PABPC1L2B Knockout HCT 116 Cell Line | EDJ-KQ77420 | Human | 645974 | Details Get a Quote |
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