Gene
mtss1lb
- ID
- ZDB-GENE-140718-4
- Name
- MTSS I-BAR domain containing 2b
- Symbol
- mtss1lb Nomenclature History
- Previous Names
-
- mtss1b
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable actin binding activity and phospholipid binding activity. Predicted to be involved in cell projection assembly and membrane organization. Predicted to act upstream of or within plasma membrane organization. Predicted to be active in actin cytoskeleton and cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in intellectual developmental disorder with ocular anomalies and distinctive facial features. Orthologous to human MTSS2 (MTSS I-BAR domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| intellectual developmental disorder with ocular anomalies and distinctive facial features | Alliance | Intellectual developmental disorder with ocular anomalies and distinctive facial features | 620086 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AH/BAR domain superfamily | I-BAR domain containing protein MTSS1/MTSS2 | IMD/I-BAR domain | WH2 domain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z084 | InterPro | 791 | ||||
| UniProtKB:A0A8M6Z7D0 | InterPro | 794 | ||||
| UniProtKB:A0A8M6YZH5 | InterPro | 762 | ||||
| UniProtKB:A0A8M6Z7W4 | InterPro | 765 | ||||
| UniProtKB:A0A8M3BB78 | InterPro | 744 | ||||
| UniProtKB:E7FA94 | InterPro | 712 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mtss1lb-201
(1)
|
Ensembl | 2,937 nt |
Interactions and Pathways
No data available
Plasmids
No data available