PABPC1L2A: Poly(A)-Binding Protein Cytoplasmic 1-Like 2A
A testis-specific poly(A)-binding protein implicated in spermatogenesis and potential cancer biomarker
Gene Information Card
| Symbol | PABPC1L2A |
|---|---|
| Full Name | poly(A) binding protein cytoplasmic 1-like 2A |
| Gene Type | protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 340371 ncbi.nlm.nih.gov/gene/340371 |
| Ensembl ID | ENSG00000183791 |
| UniProt ID | Q5JXX9 |
| OMIM ID | 300606 |
| HGNC ID | 31888 |
| Aliases | PABPC1L2A, poly(A) binding protein, cytoplasmic 1-like 2A |
Description
PABPC1L2A encodes a member of the poly(A)-binding protein (PABP) family, which binds to the poly(A) tail of mRNA and regulates translation and mRNA stability. This gene is specifically expressed in the testis, suggesting a role in spermatogenesis. It is located on the X chromosome and has been implicated in male fertility and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered expression may affect spermatogenesis; exact mechanism not fully established. | Expression data from GTEx and literature (e.g., PMID: 23431078) |
| Cancer (potential) | Aberrant expression in tumors may influence mRNA stability and translation of oncogenes; evidence is preliminary. | COSMIC mutation data and expression studies (e.g., PMID: 28622513) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | High |
| Fallopian tube | 1.2 | Low |
| Skin | 0.8 | Low |
| Other tissues | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.2 | Low expression |
| K562 | 0.1 | Not detected |
| MCF7 | 0.3 | Low expression |
| Testis-derived cell lines (e.g., NT2/D1) | 15.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (COSMIC) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (COSMIC) | Unknown; predicted possibly damaging |
| c.890_891del (p.Glu297fs) | Frameshift | Rare | Loss of function; may affect protein function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mRNA binding | • poly(A) RNA binding |
| • cytoplasm | • translation regulation |
Pathways
• mRNA surveillance
• Translation regulation
Protein Summary
PABPC1L2A is a 623-amino acid protein containing four RNA recognition motifs (RRMs) that bind poly(A) tails. It is predominantly expressed in testicular germ cells, where it may regulate translation of mRNAs essential for spermatogenesis. Its exact role in disease is under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC1L2A Knockout HEK293 Cell Line | EDJ-KQ14663 | Human | 340529 | Details Get a Quote |
| PABPC1L2A Knockout HeLa Cell Line | EDJ-KQ59681 | Human | 340529 | Details Get a Quote |
| PABPC1L2A Knockout A-549 Cell Line | EDJ-KQ68152 | Human | 340529 | Details Get a Quote |
| PABPC1L2A Knockout HCT 116 Cell Line | EDJ-KQ76529 | Human | 340529 | Details Get a Quote |
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