SPMAP2 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of SPMAP2, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SPMAP2 |
|---|---|
| Full Name | sperm microtubule associated protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000250504 |
| UniProt ID | A0A1W2PRQ4 |
| OMIM ID | Not available |
| HGNC ID | HGNC:52323 |
| Aliases | C12orf56, SPEM2 |
Description
SPMAP2 (sperm microtubule associated protein 2) is a protein-coding gene located on chromosome 12q24.33. It encodes a protein that is associated with microtubules in sperm, potentially playing a role in spermatogenesis or sperm function. The gene is expressed in testis and other tissues, and its exact function is still under investigation. SPMAP2 has been identified in recent genomic studies, and its clinical significance is emerging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No disease association established | Not applicable | No curated disease link found in ClinVar or OMIM as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 10.2 | Low |
| Fallopian tube | 5.1 | Not detected |
| Skin | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HeLa | 0.0 | No expression detected |
| K562 | 0.0 | No expression detected |
| MCF7 | 0.0 | No expression detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No curated variants | Not applicable | Not available | No pathogenic or common variants reported in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No data available; no loss-of-function mutations have been characterized.
Gain of Function (GOF)
No data available; no gain-of-function mutations have been reported.
Dominant Negative (DN)
No data available; no dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • sperm motility (GO:0030317) |
| • microtubule cytoskeleton organization (GO:0000226) |
Pathways
• No specific pathways curated in Reactome or KEGG for SPMAP2.
Protein Summary
The SPMAP2 protein is predicted to be a microtubule-associated protein, likely involved in sperm flagellar function or assembly. Its sequence contains regions with similarity to other microtubule-binding proteins, but experimental validation is limited. The protein is small (approximately 200 amino acids) and may be testis-specific in expression, though low-level expression in other tissues has been observed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMAP2 Knockout HEK293 Cell Line | EDJ-KQ11041 | Human | 51298 | Details Get a Quote |
| SPMAP2L Knockout HEK293 Cell Line | EDJ-KQ15719 | Human | 100506564 | Details Get a Quote |
| SPMAP2 Knockout HeLa Cell Line | EDJ-KQ56276 | Human | 51298 | Details Get a Quote |
| SPMAP2L Knockout HeLa Cell Line | EDJ-KQ60913 | Human | 100506564 | Details Get a Quote |
| SPMAP2 Knockout A-549 Cell Line | EDJ-KQ64764 | Human | 51298 | Details Get a Quote |
| SPMAP2L Knockout A-549 Cell Line | EDJ-KQ69388 | Human | 100506564 | Details Get a Quote |
| SPMAP2 Knockout HCT 116 Cell Line | EDJ-KQ73212 | Human | 51298 | Details Get a Quote |
| SPMAP2L Knockout HCT 116 Cell Line | EDJ-KQ77741 | Human | 100506564 | Details Get a Quote |
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