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

Description

Predicted to have intramolecular transferase activity, phosphotransferases. Predicted to be involved in carbohydrate metabolic process. Orthologous to human PGM2L1 (phosphoglucomutase 2 like 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7140576 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pgm2l1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	620191

Associated With pgm2l1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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