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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]
MFSD2A (Major Facilitator Superfamily Domain Containing 2A) is a Protein Coding gene. Diseases associated with MFSD2A include Microcephaly 15, Primary, Autosomal Recessive and Febrile Seizures. Among its related pathways are Synthesis of PC and Metabolism. Gene Ontology (GO) annotations related to this gene include symporter activity and phospholipid transporter activity. An important paralog of this gene is MFSD2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005215 | transporter activity | IBA | 21873635 |
GO:0005324 | long-chain fatty acid transporter activity | ISS | -- |
GO:0005548 | phospholipid transporter activity | TAS | -- |
GO:0015245 | fatty acid transmembrane transporter activity | ISS | 24828044 |
GO:0015293 | symporter activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,RCA | 26005868 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
.40
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3 | Synthesis of PC |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003406 | retinal pigment epithelium development | IEA,ISS | -- |
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0006869 | lipid transport | IEA | -- |
GO:0007420 | brain development | IEA,ISS | -- |
GO:0008594 | photoreceptor cell morphogenesis | IEA,ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFSD2A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFSD2A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFSD2 31 |
|
OneToOne | |
MFSD2A 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Mfsd2a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mfsd2a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MFSD2A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MFSD2A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MFSD2A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MFSD2A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mfsd2a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mfsd2ab 30 31 |
|
OneToMany | |
mfsd2aa 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684729 | Pathogenic: Functional abnormality of male internal genitalia; Cryptorchidism; Microcephaly; Intellectual disability; Intrauterine growth retardation; Hyperammonemia; Delayed gross motor development; Febrile seizures | 39,958,673(+) | AGTT/A | INFRAME_DELETION,INTRON_VARIANT | |
713931 | Benign: not provided | 39,965,930(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
721709 | Likely Benign: not provided | 39,955,370(+) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
726965 | Likely Benign: not provided | 39,955,331(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
731200 | Likely Benign: not provided | 39,968,329(+) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758933 | CNV | loss | 17122850 |
nsv945896 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 15, primary, autosomal recessive |
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febrile seizures |
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|
carbonic anhydrase va deficiency, hyperammonemia due to |
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microcephaly |
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cryptorchidism, unilateral or bilateral |
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|