MFSD2A Gene Summary [Human]
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | MFSD2A |
| Official Name | major facilitator superfamily domain containing 2A [Source:HGNC Symbol;Acc:HGNC:25897] |
| Ensembl ID | ENSG00000168389 |
| Bio databases IDs | |
| Aliases | major facilitator superfamily domain containing 2A, sodium-dependent lysophosphatidylcholine symporter 1, sodium-dependent LPC symporter 1 |
| Synonyms | 1700018O18Rik, HsMFSD2A, Major facilitator superfamily domain containing 2, MCPH15, MFSD2, MFSD2 lysolipid transporter A, lysophospholipid, NEDMISBA, NLS1, RGD1310174, SLC59A1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MFSD2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- long-chain fatty acid transporter
- sugar (Glycoside-Pentoside-Hexuronide) transporter
- organophosphate ester transporter
- phospholipid transporter
- fatty acid transporter
- Major Facilitator Superfamily
- protein binding
- solute:sodium symporter
- symporter
- transporter
- MFS/sugar transport protein
Pathways
Biological processes and signaling networks where the MFSD2A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gliosis
- obesity
- hyperactive behavior
- epithelial cancer
- diabetic nephropathy
- diabetes mellitus
- hereditary disorder
- autosomal recessive primary microcephaly type 15
- metabolic syndrome X
- dextran sodium sulfate-induced colitis
role in cell
- activation
- apoptosis
- survival
- expression in
- growth
- quantity
- accumulation in
- hypertrophy
- loss
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytoplasmic ribonucleoprotein granule
- cellular membrane
- cytosol
- apical cell surfaces
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFSD2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of multicellular organism growth
- retina morphogenesis in camera-type eye
- carbohydrate transport
- regulation of dendrite development
- positive regulation of cell growth
- long-chain fatty acid transport
- negative regulation of fatty acid beta-oxidation
- cognition
- transcytosis
- fatty acid transport
- retinal pigment epithelium development
- energy homeostasis
- maintenance of blood-brain barrier
- transmembrane transport
- photoreceptor cell morphogenesis
- establishment of blood-brain barrier
- hippocampus development
- brain development
- cellular response to starvation
- phosphatidylcholine biosynthetic process
- positive regulation of triglyceride biosynthetic process
- very-low-density lipoprotein particle assembly
- photoreceptor cell outer segment organization
- lysophospholipid transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- fatty acid transporter activity
- phospholipid transporter activity
- lysophospholipid transporter activity
- long-chain fatty acid transporter activity