VSTM2A Gene - V-Set and Transmembrane Domain Containing 2A
A comprehensive biomedical resource for VSTM2A, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | VSTM2A |
|---|---|
| Full Name | V-set and transmembrane domain containing 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 222008 ncbi.nlm.nih.gov/gene/222008 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q8N4V1 |
| OMIM ID | 618213 |
| HGNC ID | HGNC:33849 |
| Aliases | C7orf15, VSTM2 |
Description
VSTM2A (V-set and transmembrane domain containing 2A) is a protein-coding gene located on chromosome 7p11.2. It encodes a transmembrane protein with an immunoglobulin-like V-set domain, potentially involved in cell adhesion and signaling. Expression is enriched in certain tissues, and alterations have been reported in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Potential tumor suppressor; downregulation may promote proliferation | COSMIC, ClinVar |
| Lung cancer | Altered expression; possible role in tumorigenesis | COSMIC |
| Breast cancer | Methylation-associated silencing reported | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 5.1 | Low |
| Lung | 2.8 | Low |
| Colon | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Moderate expression |
| HeLa | 3.2 | Low expression |
| A549 | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.02% | Unknown functional impact |
| c.415G>A (p.Gly139Arg) | Missense | 0.01% | Reported in COSMIC |
| c.523_524del (p.Leu175fs) | Frameshift | <0.01% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu175fs) likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in VSTM2A.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • integral component of membrane |
| • protein binding |
Pathways
• No curated pathways available
Protein Summary
VSTM2A encodes a 245-amino acid transmembrane protein containing an N-terminal V-set immunoglobulin domain. It is predicted to localize to the plasma membrane and may participate in cell-cell interactions. Expression is highest in testis, with lower levels in brain and lung. The protein's exact function remains under investigation, but it is implicated in cancer through altered expression and mutation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VSTM2A Knockout HEK293 Cell Line | EDJ-KQ8930 | Human | 222008 | Details Get a Quote |
| VSTM2A Knockout HeLa Cell Line | EDJ-KQ59183 | Human | 222008 | Details Get a Quote |
| VSTM2A Knockout A-549 Cell Line | EDJ-KQ67653 | Human | 222008 | Details Get a Quote |
| VSTM2A Knockout HCT 116 Cell Line | EDJ-KQ76040 | Human | 222008 | Details Get a Quote |
