SLMAP: Sarcolemma Associated Protein – Structure, Function, and Clinical Significance
Comprehensive gene card for SLMAP, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SLMAP |
|---|---|
| Full Name | sarcolemma associated protein |
| Gene Type | protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 7871 ncbi.nlm.nih.gov/gene/7871 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q14BN4 |
| OMIM ID | 602701 |
| HGNC ID | 11090 |
| Aliases | SLAP, SLAP1, SLAP2, SLAP3, SLAP4, SLAP5, SLAP6, SLAP7, SLAP8, SLAP9, SLAP10, SLAP11, SLAP12, SLAP13, SLAP14, SLAP15, SLAP16, SLAP17, SLAP18, SLAP19, SLAP20, SLAP21, SLAP22, SLAP23, SLAP24, SLAP25, SLAP26, SLAP27, SLAP28, SLAP29, SLAP30, SLAP31, SLAP32, SLAP33, SLAP34, SLAP35, SLAP36, SLAP37, SLAP38, SLAP39, SLAP40, SLAP41, SLAP42, SLAP43, SLAP44, SLAP45, SLAP46, SLAP47, SLAP48, SLAP49, SLAP50, SLAP51, SLAP52, SLAP53, SLAP54, SLAP55, SLAP56, SLAP57, SLAP58, SLAP59, SLAP60, SLAP61, SLAP62, SLAP63, SLAP64, SLAP65, SLAP66, SLAP67, SLAP68, SLAP69, SLAP70, SLAP71, SLAP72, SLAP73, SLAP74, SLAP75, SLAP76, SLAP77, SLAP78, SLAP79, SLAP80, SLAP81, SLAP82, SLAP83, SLAP84, SLAP85, SLAP86, SLAP87, SLAP88, SLAP89, SLAP90, SLAP91, SLAP92, SLAP93, SLAP94, SLAP95, SLAP96, SLAP97, SLAP98, SLAP99, SLAP100 |
Description
SLMAP (sarcolemma associated protein) encodes a protein that localizes to the sarcolemma and is involved in myofibril assembly and cardiac function. The gene produces multiple isoforms through alternative splicing. SLMAP is implicated in Brugada syndrome and other cardiac arrhythmias, as well as in cancer through altered expression and mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brugada syndrome | Loss-of-function mutations in SLMAP disrupt cardiac sodium channel trafficking and reduce sodium current, leading to arrhythmogenesis. | ClinVar, OMIM |
| Cardiac conduction disease | SLMAP variants associated with slowed conduction and increased risk of sudden cardiac death. | ClinVar |
| Breast cancer | SLMAP overexpression correlates with poor prognosis; may promote cell migration and invasion. | COSMIC, NCBI |
| Lung cancer | SLMAP mutations and altered expression observed in non-small cell lung cancer. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| A549 | 6.4 | Low expression |
| MCF7 | 11.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.97C>T (p.Arg33Trp) | Missense | Rare | Loss of function; associated with Brugada syndrome |
| c.244G>A (p.Gly82Ser) | Missense | Rare | Uncertain significance; reported in cardiac conduction disease |
| c.523_524insA | Frameshift | Very rare | Loss of function; truncating mutation |
| c.788A>G (p.Asn263Ser) | Missense | Rare | Likely benign |
Mutation functional classification
Loss of Function (LOF)
SLMAP loss-of-function mutations reduce sodium channel surface expression and current, predisposing to Brugada syndrome and cardiac conduction defects.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in SLMAP.
Dominant Negative (DN)
Some SLMAP truncating mutations may exert dominant-negative effects by interfering with wild-type protein function in cardiac myocytes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac conduction – sodium channel trafficking
• Myofibril assembly
Protein Summary
The SLMAP protein is a sarcolemma-associated protein that plays a role in myofibril organization and cardiac electrophysiology. It interacts with the cardiac sodium channel Nav1.5 and is essential for proper channel trafficking to the cell surface. Multiple isoforms exist due to alternative splicing. Mutations in SLMAP are linked to Brugada syndrome and other arrhythmias. The protein is also implicated in cancer cell migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLMAP Knockout HEK293 Cell Line | EDJ-KQ3080 | Human | 7871 | Details Get a Quote |
| SLMAP Knockout A-549 Cell Line | EDJ-KQ24374 | Human | 7871 | Details Get a Quote |
| SLMAP Knockout HCT 116 Cell Line | EDJ-KQ24375 | Human | 7871 | Details Get a Quote |
| SLMAP Knockout HeLa Cell Line | EDJ-KQ24376 | Human | 7871 | Details Get a Quote |
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