MFSD2A - MFSD2 lysolipid transporter A, lysophospholipid Gene

Also Known as NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84879

About MFSD2A

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:39,955,145-39,969,956 (from NCBI)

This gene has 10 transcripts (splice variants), 283 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 27.5), lung (RPKM 23.6) and 14 other tissues.

Summary

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 Products (7)

mRNA Protein Name
NM_001136493.3 NP_001129965.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 1
NM_001287808.2 NP_001274737.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 3
NM_001287809.2 NP_001274738.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 4
NM_001349821.2 NP_001336750.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 6
NM_001349822.2 NP_001336751.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 7
NM_001349823.2 NP_001336752.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 8
NM_032793.5 NP_116182.2 sodium-dependent lysophosphatidylcholine symporter 1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables long-chain fatty acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
26005865 GOA
enables lysophospholipid:sodium symporter activity IDA
IDA: Inferred from direct assay
24828044 GOA
enables oleate transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
26005865 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
26005865 GOA
acts upstream of cognition IMP
IMP: Inferred from mutant phenotype
26005868 GOA
involved in fatty acid transport IMP
IMP: Inferred from mutant phenotype
26005865 GOA
involved in lipid transport across blood-brain barrier IMP
IMP: Inferred from mutant phenotype
26005865 GOA
involved in lysophospholipid translocation IMP
IMP: Inferred from mutant phenotype
26005865 GOA
involved in lysophospholipid transport IDA
IDA: Inferred from direct assay
24828044 GOA
involved in lysophospholipid transport IMP
IMP: Inferred from mutant phenotype
26005868 GOA
acts upstream of regulation of phosphatidylcholine metabolic process IMP
IMP: Inferred from mutant phenotype
26005868 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
26005865 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFSD2A Protein Structure

MFS_2

MFS_2: MFS/sugar transport protein (46 - 509)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 543 a.a.
Protein Preferred Names Protein Names

sodium-dependent lysophosphatidylcholine symporter 1

  • major facilitator superfamily domain containing 2A

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

  • Microcephaly 15, Primary, Autosomal Recessive

  • NEDMISBA

  • Mcph15

  • Primary Autosomal Recessive Microcephaly 15

  • Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Febrile Seizures

  • Febrile Seizure

  • Febrile Convulsions

  • Seizures Febrile
Cryptorchidism, Unilateral Or Bilateral

  • Cryptorchidism

  • Undescended Testicle

  • Undescended Testis

  • Cryptorchism

  • Undescended Testicles

  • CRYPTO

  • Impaired Testicular Descent

  • Cryptosporidiosis

  • Retained Testis

  • Unilateral Cryptorchidism

  • Unilateral Undescended Testis

  • Nondescent Unilateral Testicle

  • Unilateral Cryptorchism

  • Ectopic Testis, Unilateral

  • Bilateral Cryptorchidism

  • Bilateral Cryptorchism

  • Bilateral Nondescent Testicle

  • Bilateral Undescended Testes

  • Bilateral Ectopic Testes
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Primary Autosomal Recessive Microcephaly

  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly
Microcephaly 16, Primary, Autosomal Recessive

  • MCPH16

  • Primary Autosomal Recessive Microcephaly 16
Microcephaly 13, Primary, Autosomal Recessive

  • MCPH13

  • Primary Autosomal Recessive Microcephaly 13

  • Microcephaly, Type 13, Primary, Autosomal Recessive
Primary Microcephaly

  • True Microcephaly

  • Microcephaly, Primary
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08391 MFSD2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-164994 LysoPC (18:4(6Z,9Z,12Z,15Z)) / Unkown
HY-RS28402 Mfsd2a Rat Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MFSD2A RGD RGD:1310174
Felis catus MFSD2A VGNC VGNC:63479
Mus musculus MFSD2A MGD MGI:1923824
Canis familiaris MFSD2A VGNC VGNC:43200
Bos taurus MFSD2A VGNC VGNC:31435
Macaca mulatta MFSD2A VGNC VGNC:74585
Others MFSD2A NCBI