MID2 Gene: Midline 2, E3 Ubiquitin Protein Ligase
Comprehensive genomic and functional overview of the MID2 gene, including its role in ubiquitination, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | MID2 |
|---|---|
| Full Name | Midline 2, E3 Ubiquitin Protein Ligase |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 11043 ncbi.nlm.nih.gov/gene/11043 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | Q9UJV3 |
| OMIM ID | 300246 |
| HGNC ID | 7096 |
| Aliases | TRIM1, FXY2, RNF60 |
Description
MID2 (Midline 2) is a protein-coding gene located on the X chromosome. It encodes a member of the tripartite motif (TRIM) family, functioning as an E3 ubiquitin-protein ligase. The protein is involved in ubiquitination and cellular signaling, and mutations in this gene are associated with X-linked intellectual disability and Opitz G/BBB syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability, MID2-related | Loss of function due to missense/nonsense mutations impairing ubiquitin ligase activity | ClinVar, OMIM |
| Opitz G/BBB syndrome, X-linked | Disruption of MID2 protein function affecting midline development | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Heart | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| SH-SY5Y | 6.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Loss of function, associated with intellectual disability |
| c.202G>A (p.Gly68Arg) | Missense | <0.01% | Loss of function, associated with Opitz G/BBB syndrome |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr34Met, p.Gly68Arg) impair E3 ubiquitin ligase activity, leading to reduced protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for MID2.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • zinc ion binding | • cytoplasm |
| • nucleus |
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• TRIM family signaling
Protein Summary
The MID2 protein is a 729-amino acid E3 ubiquitin ligase containing a RING finger domain, B-box zinc fingers, and a coiled-coil region. It localizes to the cytoplasm and nucleus, mediating ubiquitination of target proteins involved in cell growth and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MID2 Knockout HEK293 Cell Line | EDJ-KQ6630 | Human | 11043 | Details Get a Quote |
| MID2 Knockout A-549 Cell Line | EDJ-KQ32261 | Human | 11043 | Details Get a Quote |
| MID2 Knockout HCT 116 Cell Line | EDJ-KQ32263 | Human | 11043 | Details Get a Quote |
| MID2 Knockout HeLa Cell Line | EDJ-KQ32264 | Human | 11043 | Details Get a Quote |
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