Gene
shmt2
- ID
- ZDB-GENE-071213-1
- Name
- serine hydroxymethyltransferase 2 (mitochondrial)
- Symbol
- shmt2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Exhibits glycine hydroxymethyltransferase activity and pyridoxal phosphate binding activity. Predicted to be involved in several processes, including carboxylic acid metabolic process; cellular response to tetrahydrofolate; and protein homotetramerization. Localizes to mitochondrion. Is expressed in digestive system; heart; muscle; nervous system; and pleuroperitoneal region. Orthologous to human SHMT2 (serine hydroxymethyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | Alliance | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 619121 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| schizophrenia | shmt2a329/a329 | standard conditions | Thyme et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR039429 | Serine hydroxymethyltransferase-like domain |
| Family | IPR001085 | Serine hydroxymethyltransferase |
| Family | IPR049943 | Serine hydroxymethyltransferase-like |
| Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
| Protein | Length | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain | Serine hydroxymethyltransferase | Serine hydroxymethyltransferase-like | Serine hydroxymethyltransferase-like domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A9LDD9
|
492 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available