MFSD2A (major facilitator superfamily domain containing 2A)

2010-06-01  

Identity

HGNC
MFSD2A
LOCATION
1p34.2
LOCUSID
84879
ALIAS
MCPH15,MFSD2,NEDMISBA,NLS1,SLC59A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84879
MIM: 614397
HGNC: 25897
Ensembl: ENSG00000168389

Variants:

dbSNP: 84879
ClinVar: 84879
TCGA: ENSG00000168389
COSMIC: MFSD2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168389ENST00000372809Q8NA29
ENSG00000168389ENST00000372811Q8NA29
ENSG00000168389ENST00000420632E7EPI8
ENSG00000168389ENST00000434861Q5SSK0

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381555302024Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.0
385833032024Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.0
381555302024Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.0
385833032024Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.0
357108382022Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.15
357108382022Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.15
342290492021Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.4
344003702021MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.1
342290492021Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.4
344003702021MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.1
321170642020Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.9
325722022020Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.17
327056032020Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.13
321170642020Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.9
325722022020Biallelic 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)