ACTL7B
Actin-like 7B: A testis-specific actin-related protein involved in spermatogenesis
Gene Information Card
| Symbol | ACTL7B |
|---|---|
| Full Name | actin-like 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 54980 ncbi.nlm.nih.gov/gene/54980 |
| Ensembl ID | ENSG00000107014 |
| UniProt ID | Q9Y614 |
| OMIM ID | 604304 |
| HGNC ID | 160 |
| Aliases | ARP2, ARP3, ACTL7 |
Description
ACTL7B (actin-like 7B) is a protein-coding gene that encodes a member of the actin-related protein (ARP) family. This gene is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in acrosome formation and sperm head morphogenesis. Mutations in ACTL7B are associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 84 | Loss-of-function mutations disrupt actin cytoskeleton dynamics in spermatids, impairing acrosome biogenesis and sperm head shaping. | ClinVar, OMIM |
| Male infertility (non-obstructive azoospermia) | Biallelic variants in ACTL7B cause defective sperm morphology and motility. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 1.1 | Low |
| Prostate | 0.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular germ cells (spermatids) | High | Enriched in round and elongating spermatids |
| Sertoli cells | Low | Minimal expression |
| Leydig cells | Not detected | Absent |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.169C>T (p.Arg57Ter) | nonsense | Rare | Premature stop, loss of function |
| c.344G>A (p.Arg115Gln) | missense | Rare | Likely damaging, disrupts actin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of cytoskeleton |
| • spermatid development | • acrosome assembly |
| • sperm head morphogenesis |
Pathways
• Spermatogenesis
• Actin cytoskeleton regulation
Protein Summary
ACTL7B encodes a 376-amino acid protein that shares structural homology with conventional actin but lacks the typical ATP-binding site. It localizes to the acrosomal region and manchette of developing spermatids, where it polymerizes into filaments that support acrosome attachment and nuclear shaping. The protein interacts with other actin-related proteins and is essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTL7B Knockout HEK293 Cell Line | EDJ-KQ6563 | Human | 10880 | Details Get a Quote |
| ACTL7B Knockout HeLa Cell Line | EDJ-KQ55512 | Human | 10880 | Details Get a Quote |
| ACTL7B Knockout A-549 Cell Line | EDJ-KQ64002 | Human | 10880 | Details Get a Quote |
| ACTL7B Knockout HCT 116 Cell Line | EDJ-KQ72453 | Human | 10880 | Details Get a Quote |
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