MATCAP2 Gene: Function, Expression, and Clinical Significance
Comprehensive overview of the MATCAP2 gene, including genomic context, protein function, tissue expression, and associated diseases.
Gene Information Card
| Symbol | MATCAP2 |
|---|---|
| Full Name | Meteorin-like, MAP2 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100996693 ncbi.nlm.nih.gov/gene/100996693 |
| Ensembl ID | ENSG00000280071 |
| UniProt ID | A0A1B0GVR6 |
| OMIM ID | 618949 |
| HGNC ID | 53884 |
| Aliases | METEORIN-LIKE, MAP2 DOMAIN CONTAINING 2; C1orf170 |
Description
MATCAP2 (Meteorin-like, MAP2 domain containing 2) is a protein-coding gene located on chromosome 1p36.33. It encodes a protein that contains a MAP2 (microtubule-associated protein 2) domain, suggesting a potential role in microtubule dynamics or neuronal function. The gene is expressed in various tissues, with notable levels in the brain and testis. Its exact biological function is still under investigation, but it may be involved in cellular processes related to cytoskeletal organization and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease association found in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.5 | Low |
| Lung | 3.2 | Low |
| Liver | 1.1 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.4 | Moderate expression |
| HeLa | 3.1 | Low expression |
| SH-SY5Y | 8.9 | High expression (neuronal) |
| HepG2 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | No pathogenic variants reported in ClinVar or COSMIC for MATCAP2. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in MATCAP2 associated with disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MATCAP2.
Dominant Negative (DN)
No evidence of dominant-negative effects for MATCAP2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • cytoskeleton organization (GO:0007010) |
| • nervous system development (GO:0007399) |
Pathways
• Microtubule cytoskeleton regulation
• Neuronal development pathways
Protein Summary
The MATCAP2 protein is predicted to contain a MAP2 domain, which is characteristic of microtubule-associated proteins. This suggests a role in stabilizing microtubules and potentially influencing neuronal morphology. The protein is expressed in brain and testis, indicating possible functions in neurodevelopment and spermatogenesis. However, functional studies are limited, and the precise molecular mechanisms remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MATCAP2 Knockout HEK293 Cell Line | EDJ-KQ14206 | Human | 23366 | Details Get a Quote |
| MATCAP2 Knockout A-549 Cell Line | EDJ-KQ44162 | Human | 23366 | Details Get a Quote |
| MATCAP2 Knockout HCT 116 Cell Line | EDJ-KQ44163 | Human | 23366 | Details Get a Quote |
| MATCAP2 Knockout HeLa Cell Line | EDJ-KQ44164 | Human | 23366 | Details Get a Quote |
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