SPMAP2L Gene - Structure, Function, and Clinical Significance
Comprehensive resource on SPMAP2L (sperm microtubule associated protein 2 like), including genomic annotations, expression data, and disease associations.
Gene Information Card
| Symbol | SPMAP2L |
|---|---|
| Full Name | sperm microtubule associated protein 2 like |
| Gene Type | protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 440145 ncbi.nlm.nih.gov/gene/440145 |
| Ensembl ID | ENSG00000250504 |
| UniProt ID | A6NMK7 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37232 |
| Aliases | C12orf56 |
Description
SPMAP2L (sperm microtubule associated protein 2 like) is a protein-coding gene located on chromosome 12q24.33. It is predicted to be involved in microtubule-associated processes, particularly in sperm function. The gene is expressed in testis and other tissues, and its protein product may play a role in spermatogenesis or flagellar function. Limited functional studies are available, and its clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No direct evidence from OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Predicted high expression based on gene name and limited data |
| Other tissues | Not available | No reliable expression data from GTEx or HPA |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data | Not available | No expression data from CCLE or other sources |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | No COSMIC or ClinVar entries |
Mutation functional classification
Loss of Function (LOF)
No evidence
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (predicted) | • microtubule cytoskeleton organization (predicted) |
Pathways
• No known pathways
Protein Summary
The SPMAP2L protein is predicted to contain microtubule-binding domains, suggesting a role in microtubule dynamics. It may be involved in sperm flagellar assembly or function. However, experimental validation is lacking, and the protein's exact function remains unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMAP2L Knockout HEK293 Cell Line | EDJ-KQ15719 | Human | 100506564 | Details Get a Quote |
| SPMAP2L Knockout HeLa Cell Line | EDJ-KQ60913 | Human | 100506564 | Details Get a Quote |
| SPMAP2L Knockout A-549 Cell Line | EDJ-KQ69388 | Human | 100506564 | Details Get a Quote |
| SPMAP2L Knockout HCT 116 Cell Line | EDJ-KQ77741 | Human | 100506564 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
