MFSD2A MFSD2 lysolipid transporter A, lysophospholipid [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFSD2Aprovided by HGNC
Official Full Name: MFSD2 lysolipid transporter A, lysophospholipidprovided by HGNC
Primary source: HGNC:HGNC:25897
See related: Ensembl:ENSG00000168389 MIM:614397; AllianceGenome:HGNC:25897
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA
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]
Expression: Broad expression in testis (RPKM 27.5), lung (RPKM 23.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (39955145..39969956)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (39824591..39839402)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40420817..40435628)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.
Title: Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.
Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.
Title: Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.
Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
Title: Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.
Title: Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Title: MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Title: Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.
Title: Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.
Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
Title: Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma.
Title: The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma.
These findings suggest endothelial Mfsd2a as an important pathogenic mediator and supplementation with docosahexaenoic acid as a potential therapeutic option for Zika virus infection.
Title: Zika virus degrades the ω-3 fatty acid transporter Mfsd2a in brain microvascular endothelial cells and impairs lipid homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Microcephaly 15, primary, autosomal recessive MedGen: C4225310 OMIM: 616486 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1874E (e-PCR)
- UniSTS:151052

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH80981 (e-PCR)
- UniSTS:89139

AL010130 (e-PCR)
- UniSTS:28556

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables lysophosphatidylcholine flippase activity	IEA Inferred from Electronic Annotation more info
enables lysophospholipid:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysophospholipid:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables oleate transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phospholipid transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbohydrate transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to starvation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of cognition	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in embryonic brain development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in establishment of blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in establishment of blood-retinal barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lipid transport across blood-brain barrier	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport across blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid transport across blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysophospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysophospholipid translocation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysophospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lysophospholipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysophospholipid transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within maintenance of blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within motor behavior	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylcholine biosynthetic process	TAS Traceable Author Statement more info
acts_upstream_of_or_within photoreceptor cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within photoreceptor cell outer segment organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of neuron projection arborization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of phosphatidylcholine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of phosphatidylcholine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of phosphatidylethanolamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of phosphatidylserine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within retina morphogenesis in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within retinal pigment epithelium development	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within very-low-density lipoprotein particle assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	RCA inferred from Reviewed Computational Analysis more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-dependent lysophosphatidylcholine symporter 1

Names: major facilitator superfamily domain containing 2A; major facilitator superfamily domain-containing protein 2A; sodium-dependent LPC symporter 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_053084.1 RefSeqGene

Range

5034..19845

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001136493.3 → NP_001129965.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 1

See identical proteins and their annotated locations for NP_001129965.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK093223, BP321361, DB376308

Consensus CDS

CCDS44118.1

UniProtKB/Swiss-Prot

A8K675, Q6UWU5, Q8NA29, Q96F59, Q9BRC8

UniProtKB/TrEMBL

B4DNN7

Related

ENSP00000361895.5, ENST00000372809.5

Conserved Domains (2) summary

pfam13347
Location:46 → 509

MFS_2; MFS/sugar transport protein

cl21472
Location:40 → 511

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001287808.2 → NP_001274737.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK093223, BP321361, DB376308

Consensus CDS

CCDS72762.1

UniProtKB/TrEMBL

B4DWH2, E7EPI8

Related

ENSP00000391261.2, ENST00000420632.6

Conserved Domains (2) summary

pfam13347
Location:3 → 340

MFS_2; MFS/sugar transport protein

cl21472
Location:1 → 342

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001287809.2 → NP_001274738.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.

Source sequence(s)

AB073383, AK297991, DB376308, DC297497

UniProtKB/TrEMBL

B4DNN7

Conserved Domains (2) summary

pfam13347
Location:32 → 457

MFS_2; MFS/sugar transport protein

cl21472
Location:51 → 459

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001349821.2 → NP_001336750.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) encodes isoform 6.

Source sequence(s)

AL663070

UniProtKB/TrEMBL

B4DNN7

Conserved Domains (1) summary

pfam13347
Location:46 → 494

MFS_2; MFS/sugar transport protein
NM_001349822.2 → NP_001336751.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) encodes isoform 7.

Source sequence(s)

AL663070

UniProtKB/TrEMBL

B4DNN7

Conserved Domains (1) summary

pfam13347
Location:48 → 468

MFS_2; MFS/sugar transport protein
NM_001349823.2 → NP_001336752.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) encodes isoform 8.

Source sequence(s)

AL663070

UniProtKB/TrEMBL

B4DWH2

Conserved Domains (1) summary

pfam13347
Location:2 → 381

MFS_2; MFS/sugar transport protein
NM_032793.5 → NP_116182.2 sodium-dependent lysophosphatidylcholine symporter 1 isoform 2

See identical proteins and their annotated locations for NP_116182.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AB073383, BP321361, DB376308

Consensus CDS

CCDS446.1

UniProtKB/TrEMBL

B4DNN7

Related

ENSP00000361898.6, ENST00000372811.10

Conserved Domains (1) summary

pfam13347
Location:48 → 496

MFS_2; MFS/sugar transport protein

RNA

NR_109896.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB073383, BP321361, DB376308

Related

ENST00000483824.5