ZFIN is now using GRCz12tu for Genomic Data
Gene
pgm2l1
- ID
- ZDB-GENE-041008-205
- Name
- phosphoglucomutase 2-like 1
- Symbol
- pgm2l1 Nomenclature History
- Previous Names
-
- im:7140576 (1)
- zgc:198285
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable glucose-1,6-bisphosphate synthase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be located in cytosol. Human ortholog(s) of this gene implicated in skin disease. Orthologous to human PGM2L1 (phosphoglucomutase 2 like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140576 (1 image)
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 |
|---|---|---|---|
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 620191 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005844 | Alpha-D-phosphohexomutase, alpha/beta/alpha domain I |
| Domain | IPR005845 | Alpha-D-phosphohexomutase, alpha/beta/alpha domain II |
| Domain | IPR005846 | Alpha-D-phosphohexomutase, alpha/beta/alpha domain III |
| Family | IPR005841 | Alpha-D-phosphohexomutase superfamily |
| Homologous_superfamily | IPR016055 | Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III |
| Homologous_superfamily | IPR036900 | Alpha-D-phosphohexomutase, C-terminal domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha-D-phosphohexomutase, alpha/beta/alpha domain I | Alpha-D-phosphohexomutase, alpha/beta/alpha domain II | Alpha-D-phosphohexomutase, alpha/beta/alpha domain III | Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III | Alpha-D-phosphohexomutase, C-terminal domain superfamily | Alpha-D-phosphohexomutase superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:B7ZVE8 | InterPro | 619 | ||||||
| UniProtKB:A0AC58HAS3 | InterPro | 485 | ||||||
| UniProtKB:A0AC58HAS4 | InterPro | 619 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pgm2l1-201
(1)
|
Ensembl | 2,835 nt | ||
| mRNA |
pgm2l1-202
(1)
|
Ensembl | 3,343 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers