MPZL2 Gene - Myelin Protein Zero Like 2
Gene encoding a transmembrane glycoprotein involved in cell adhesion and hearing function
Gene Information Card
| Symbol | MPZL2 |
|---|---|
| Full Name | Myelin Protein Zero Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 10205 ncbi.nlm.nih.gov/gene/10205 |
| Ensembl ID | ENSG00000149557 |
| UniProt ID | O60487 |
| OMIM ID | 604873 |
| HGNC ID | 7227 |
| Aliases | EVA, PZR, EVA1 |
Description
MPZL2 encodes a transmembrane glycoprotein belonging to the immunoglobulin superfamily. It functions as a cell adhesion molecule and is involved in cell-cell interactions, particularly in the inner ear where it is essential for hearing. Mutations in MPZL2 cause autosomal recessive deafness type 111 (DFNB111).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness 111 (DFNB111) | Loss-of-function mutations disrupt cell adhesion in cochlear hair cells, leading to sensorineural hearing loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 15.2 | Medium |
| Salivary gland | 12.8 | Medium |
| Adrenal gland | 10.5 | Medium |
| Lung | 9.3 | Low |
| Kidney | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| A549 | 9.8 | Moderate expression |
| HepG2 | 7.2 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Ter) | Nonsense | Pathogenic | Premature stop codon, loss of protein function |
| c.1A>G (p.Met1Val) | Missense | Pathogenic | Disrupts translation initiation |
| c.346G>A (p.Gly116Ser) | Missense | Uncertain significance | Potential structural alteration |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, causing DFNB111
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (hsa04514)
• Immunoglobulin superfamily adhesion
Protein Summary
MPZL2 is a 249-amino acid transmembrane glycoprotein with a single Ig-like C2-type domain. It mediates homophilic cell adhesion and is highly expressed in epithelial tissues, particularly in the inner ear. The protein is essential for maintaining the structural integrity of cochlear hair cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPZL2 Knockout HEK293 Cell Line | EDJ-KQ6314 | Human | 10205 | Details Get a Quote |
| MPZL2 Knockout HCT 116 Cell Line | EDJ-KQ31611 | Human | 10205 | Details Get a Quote |
| MPZL2 Knockout HeLa Cell Line | EDJ-KQ31612 | Human | 10205 | Details Get a Quote |
| MPZL2 Knockout A-549 Cell Line | EDJ-KQ63825 | Human | 10205 | Details Get a Quote |
