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 enable lysophospholipid:sodium symporter activity. Acts upstream of or within lysophospholipid transport and maintenance of blood-brain barrier. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in 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 (MFSD2 lysolipid transporter A, lysophospholipid).
- 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