SPMIP2
Sperm Microtubule Inner Protein 2
Gene Information Card
| Symbol | SPMIP2 |
|---|---|
| Full Name | Sperm Microtubule Inner Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000214717 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618828 |
| HGNC ID | 44170 |
| Aliases | C16orf90, MIA2 |
Description
SPMIP2 encodes a protein localized to the inner microtubule structures of the sperm flagellum, essential for sperm motility and male fertility. Mutations in this gene are associated with multiple morphological abnormalities of the sperm flagella (MMAF) and asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple morphological abnormalities of the sperm flagella (MMAF) | Loss-of-function mutations disrupt flagellar inner microtubule structure, impairing sperm motility | ClinVar, OMIM |
| Asthenozoospermia | Defective sperm motility due to flagellar structural abnormalities | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular cells | N/A | Expressed in spermatids |
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.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, causing MMAF and male infertility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • sperm flagellum |
| • spermatogenesis | • cilium assembly |
Pathways
• Spermatogenesis
• Cilium assembly
Protein Summary
SPMIP2 is a 221-amino acid protein localized to the inner microtubules of the sperm flagellum. It is essential for flagellar stability and sperm motility. Loss-of-function mutations cause severe asthenozoospermia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP2 Knockout HEK293 Cell Line | EDJ-KQ11492 | Human | 152940 | Details Get a Quote |
| SPMIP2 Knockout HeLa Cell Line | EDJ-KQ58719 | Human | 152940 | Details Get a Quote |
| SPMIP2 Knockout A-549 Cell Line | EDJ-KQ67201 | Human | 152940 | Details Get a Quote |
| SPMIP2 Knockout HCT 116 Cell Line | EDJ-KQ75606 | Human | 152940 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
