Gene
mfsd2aa
- ID
- ZDB-GENE-041114-166
- Name
- MFSD2 lysolipid transporter A, lysophospholipid a
- 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 permeability of blood-brain barrier. Predicted to localize to integral component of plasma membrane. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 15. Is expressed in axis; chondrocranium; nervous system; and polster. Orthologous to human MFSD2A (major facilitator superfamily domain containing 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101615 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | AB/TU + MO1-mfsd2aa | standard conditions | Guemez-Gamboa et al., 2015 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Lactose permease-like | MFS transporter superfamily |
|---|---|---|---|
|
UniProtKB:Q5U3U7
|
532 | ||
|
UniProtKB:A0A8M2B365
|
550 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mfsd2aa-201
(1)
|
Ensembl | 1,943 nt |
Interactions and Pathways
No data available
Plasmids
No data available