SPMIP6: Sperm Microtubule Inner Protein 6 – Gene Overview and Clinical Relevance
A comprehensive biomedical resource on SPMIP6, covering genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SPMIP6 |
|---|---|
| Full Name | sperm microtubule inner protein 6 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000267260 |
| UniProt ID | A0A1B0GVR6 |
| OMIM ID | 618678 |
| HGNC ID | 53815 |
| Aliases | MIP6, C17orf77 |
Description
SPMIP6 (sperm microtubule inner protein 6) is a protein-coding gene located on chromosome 17q21.31. It encodes a protein that is part of the microtubule inner protein family, predominantly expressed in testis and associated with sperm flagellar structure and function. SPMIP6 has been implicated in male infertility due to sperm motility defects. Its expression is highly enriched in testicular tissues, and mutations may lead to asthenozoospermia or other sperm abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in SPMIP6 disrupt sperm flagellar microtubule inner proteins, impairing sperm motility. | ClinVar, OMIM |
| Spermatogenic failure | Variants affecting SPMIP6 expression or protein function may contribute to reduced sperm quality. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 429.2 | High |
| Fallopian tube | 3.1 | Low |
| Skin | 2.5 | Low |
| Other tissues | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | Not available | Expected high expression based on tissue data |
| Testicular cell lines (e.g., NT2/D1) | Not available | Limited data; further research needed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function affecting protein initiation |
| c.IVS2+1G>A | Splice site | Rare | Splicing disruption leading to truncated protein |
| c.245C>T (p.Pro82Leu) | Missense | Rare | May affect protein stability or function |
Mutation functional classification
Loss of Function (LOF)
Mutations that lead to premature stop codons, frameshifts, or splice defects are likely to cause loss of function, resulting in defective sperm flagella and infertility.
Gain of Function (GOF)
No evidence of gain-of-function mutations for SPMIP6; current data support loss-of-function as the primary mechanism.
Dominant Negative (DN)
No evidence of dominant-negative effects; SPMIP6 mutations appear to be recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • sperm motility |
| • flagellated sperm motility | • cilium assembly |
| • microtubule cytoskeleton organization |
Pathways
• Spermatogenesis
• Cilium assembly and function
• Microtubule-based movement
Protein Summary
The SPMIP6 protein is a component of the sperm flagellar microtubule inner proteins, which are essential for the structural integrity and motility of sperm. It is localized to the axoneme and plays a role in stabilizing microtubule doublets. Defects in SPMIP6 lead to impaired sperm motility and male infertility. The protein is predominantly expressed in testis, with minimal expression in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP6 Knockout HEK293 Cell Line | EDJ-KQ10164 | Human | 84688 | Details Get a Quote |
| SPMIP6 Knockout HeLa Cell Line | EDJ-KQ57645 | Human | 84688 | Details Get a Quote |
| SPMIP6 Knockout A-549 Cell Line | EDJ-KQ66143 | Human | 84688 | Details Get a Quote |
| SPMIP6 Knockout HCT 116 Cell Line | EDJ-KQ74570 | Human | 84688 | Details Get a Quote |
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