MFSD2A - MFSD2 lysolipid transporter A, lysophospholipid Gene

Homo sapiens

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

Gene ID: 84879 | Gene type: protein coding

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

MFSD2A Protein Structure

MFS_2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08391	MFSD2A Human 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

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