SPMIP9: Sperm Microtubule Inner Protein 9 – Gene Overview and Functional Insights
A comprehensive biomedical reference for SPMIP9, covering genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SPMIP9 |
|---|---|
| Full Name | sperm microtubule inner protein 9 |
| Gene Type | protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000250504 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:51302 |
| Aliases | C12orf56 |
Description
SPMIP9 (sperm microtubule inner protein 9) is a protein-coding gene located on chromosome 12q24.33. It encodes a protein that is part of the sperm microtubule inner protein family, which is involved in the structural organization of the sperm flagellum. The gene is expressed predominantly in testis and is implicated in male fertility. Its exact function is still under investigation, but it is thought to contribute to sperm motility and morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential role in sperm flagellar structure; mutations may affect sperm motility. | Limited evidence; inferred from expression and protein family function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (e.g., 100+ nTPM) | Predominant expression |
| Other tissues | Low or not detected | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis cell lines (e.g., TCam-2) | High | Relevant for spermatogenesis studies |
| Other cell lines | Low/absent | Not typically expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not documented in major databases | N/A | N/A | No known pathogenic variants reported in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for SPMIP9.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule binding | • Sperm flagellum |
| • Cytoskeleton organization |
Pathways
• Spermatogenesis
• Cilium assembly
Protein Summary
The SPMIP9 protein is predicted to be a component of the sperm flagellar inner microtubule structures. It likely plays a role in stabilizing microtubules and ensuring proper sperm tail formation and function. Its testis-specific expression suggests a specialized role in male gamete biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP9 Knockout HEK293 Cell Line | EDJ-KQ4525 | Human | 200523 | Details Get a Quote |
| SPMIP9 Knockout HeLa Cell Line | EDJ-KQ59009 | Human | 200523 | Details Get a Quote |
| SPMIP9 Knockout A-549 Cell Line | EDJ-KQ67489 | Human | 200523 | Details Get a Quote |
| SPMIP9 Knockout HCT 116 Cell Line | EDJ-KQ75887 | Human | 200523 | Details Get a Quote |
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