Gene

mfsd8

ID

ZDB-GENE-060818-29

Name

major facilitator superfamily domain containing 8

Symbol

mfsd8 Nomenclature History

Previous Names

im:7139494
zgc:136865 (1)

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Predicted to enable chloride channel activity and iodide transmembrane transporter activity. Predicted to be involved in autophagosome maturation and lysosome organization. Predicted to act upstream of or within transmembrane transport. Predicted to be located in endomembrane system; lysosome; and membrane. Predicted to be active in lysosomal membrane. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 7. Orthologous to human MFSD8 (major facilitator superfamily domain containing 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7139494 (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 mfsd8 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
neuronal ceroid lipofuscinosis 7	Alliance	Ceroid lipofuscinosis, neuronal, 7	610951
		Macular dystrophy with central cone involvement	616170

Associated With mfsd8 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR020846	Major facilitator superfamily domain
Family	IPR011701	Major facilitator superfamily
Family	IPR051068	Major Facilitator Superfamily Domain-Containing Protein
Homologous_superfamily	IPR036259	MFS transporter superfamily