Gene

mfsd2aa

ID
ZDB-GENE-041114-166
Name
major facilitator superfamily domain containing 2aa
Symbol
mfsd2aa Nomenclature History
Previous Names
  • mfsd2a
  • zgc:101615
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have lysophospholipid:sodium symporter activity. Involved in lysophospholipid transport and maintenance of blood-brain barrier. Predicted to localize to integral component of plasma membrane. Is expressed in axis; chondrocranium; nervous system; and polster. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 15. Orthologous to human MFSD2A (major facilitator superfamily domain containing 2A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mfsd2aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
primary autosomal recessive microcephaly 15 Alliance Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities 616486
Associated With mfsd2aa Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR039672 Lactose permease-like
Homologous_superfamily IPR036259 MFS transporter superfamily
Domain Details Per Protein
Protein Length Lactose permease-like MFS transporter superfamily
UniProtKB:Q5U3U7 532
UniProtKB:B8A579 532
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations