Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
MCPH15,MFSD2,NEDMISBA,NLS1,SLC59A1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84879
MIM: 614397
HGNC: 25897
Ensembl: ENSG00000168389
Variants:
dbSNP: 84879
ClinVar: 84879
TCGA: ENSG00000168389
COSMIC: MFSD2A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168389 | ENST00000372809 | Q8NA29 |
| ENSG00000168389 | ENST00000372811 | Q8NA29 |
| ENSG00000168389 | ENST00000420632 | E7EPI8 |
| ENSG00000168389 | ENST00000434861 | Q5SSK0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38155530 | 2024 | Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations. | 0 |
| 38583303 | 2024 | Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status. | 0 |
| 38155530 | 2024 | Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations. | 0 |
| 38583303 | 2024 | Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status. | 0 |
| 35710838 | 2022 | Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2. | 15 |
| 35710838 | 2022 | Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2. | 15 |
| 34229049 | 2021 | Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy. | 4 |
| 34400370 | 2021 | MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. | 1 |
| 34229049 | 2021 | Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy. | 4 |
| 34400370 | 2021 | MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. | 1 |
| 32117064 | 2020 | Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy. | 9 |
| 32572202 | 2020 | Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. | 17 |
| 32705603 | 2020 | Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye. | 13 |
| 32117064 | 2020 | Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy. | 9 |
| 32572202 | 2020 | Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. | 17 |
Citation
Dessen P
MFSD2A (major facilitator superfamily domain containing 2A)
Atlas Genet Cytogenet Oncol Haematol. 2010-06-01
Online version: http://atlasgeneticsoncology.org/gene/51513/mfsd2a-(major-facilitator-superfamily-domain-containing-2a)
