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
- Enables glycine hydroxymethyltransferase activity and pyridoxal phosphate binding activity. Predicted to be involved in glycine biosynthetic process from serine and tetrahydrofolate metabolic process. Predicted to act upstream of or within methylation and one-carbon metabolic process. Located in mitochondrion. Is expressed in digestive system; heart; muscle; nervous system; and pleuroperitoneal region. Used to study schizophrenia. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. 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