ACTRT2 (Actin Related Protein T2)
A testis-specific actin-related protein involved in spermatogenesis and potential male infertility
Gene Information Card
| Symbol | ACTRT2 |
|---|---|
| Full Name | Actin Related Protein T2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 140625 ncbi.nlm.nih.gov/gene/140625 |
| Ensembl ID | ENSG00000169764 |
| UniProt ID | Q8N9I0 |
| OMIM ID | 608479 |
| HGNC ID | 24034 |
| Aliases | ARP-T2, ACTL7B, ARPM2 |
Description
ACTRT2 (Actin Related Protein T2) is a protein-coding gene located on chromosome 1q42.13. It encodes a member of the actin-related protein family that is specifically expressed in the testis. The protein is involved in spermatogenesis, particularly in the formation of the acrosome and sperm head morphogenesis. Mutations in ACTRT2 have been associated with male infertility due to sperm head defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with sperm head defects | Loss-of-function mutations disrupt acrosome formation and sperm head shaping | ClinVar, OMIM |
| Spermatogenic failure | Impaired actin cytoskeleton dynamics in developing sperm | PubMed, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Testis-specific expression |
| Spermatids | High | Post-meiotic expression |
| Sertoli cells | Low | Supporting cells |
| Leydig cells | Low | Interstitial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.IVS1+1G>A | Splice site | Rare | Loss of function; associated with infertility |
| p.Arg88Ter | Nonsense | Rare | Premature stop; loss of function |
| p.Gly112Arg | Missense | Rare | Likely damaging; altered protein folding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and splice-site mutations lead to truncated or absent protein, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005200 (structural constituent of cytoskeleton) | • GO:0005886 (plasma membrane) |
| • GO:0005737 (cytoplasm) | • GO:0007283 (spermatogenesis) |
| • GO:0030479 (actin cortical patch) | • GO:0030478 (actin cap) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
ACTRT2 encodes a 376-amino acid protein belonging to the actin-related protein family. It shares structural homology with conventional actin but has a testis-specific expression pattern. The protein localizes to the acrosome and sperm head, where it participates in actin polymerization and cytoskeletal remodeling essential for sperm morphogenesis. Loss of ACTRT2 function leads to abnormal sperm head shape and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTRT2 Knockout HEK293 Cell Line | EDJ-KQ9790 | Human | 140625 | Details Get a Quote |
| ACTRT2 Knockout HeLa Cell Line | EDJ-KQ58440 | Human | 140625 | Details Get a Quote |
| ACTRT2 Knockout A-549 Cell Line | EDJ-KQ66927 | Human | 140625 | Details Get a Quote |
| ACTRT2 Knockout HCT 116 Cell Line | EDJ-KQ75331 | Human | 140625 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
