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MFSD2B MFSD2 lysolipid transporter B, sphingolipid [ Homo sapiens (human) ]

Gene ID: 388931, updated on 27-Nov-2024

Summary

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Official Symbol
MFSD2Bprovided by HGNC
Official Full Name
MFSD2 lysolipid transporter B, sphingolipidprovided by HGNC
Primary source
HGNC:HGNC:37207
See related
Ensembl:ENSG00000205639 MIM:617845; AllianceGenome:HGNC:37207
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLC59A2
Summary
Enables sphingolipid transporter activity. Involved in lipid transport. Is active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in bone marrow (RPKM 2.9), placenta (RPKM 0.3) and 1 other tissue See more
Orthologs
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Genomic context

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See MFSD2B in Genome Data Viewer
Location:
2p23.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24010085..24026775)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24044782..24061473)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24232955..24249645)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 2A Neighboring gene SDHC pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24238941-24239496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24239497-24240052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:24244092-24244708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24246333-24247318 Neighboring gene FKBP prolyl isomerase 1B Neighboring gene WD repeat and coiled coil containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11225 Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24276709-24276900 Neighboring gene Sharpr-MPRA regulatory region 5215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24298482-24299014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24299015-24299546 Neighboring gene splicing factor 3b subunit 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter. Ghaderi S, et al. Pharmacol Ther, 2023 Sep. PMID 37390971
  2. Active transporters as enzymes: an energetic framework applied to major facilitator superfamily and ABC importer systems. Shilton BH. Biochem J, 2015 Apr 15. PMID 25837849
  3. Whole genome methylation analyses of schizophrenia patients before and after treatment. Rukova B, et al. Biotechnol Biotechnol Equip, 2014 May 4. PMID 26019538, Free PMC Article
  4. MFSD2B is a sphingosine 1-phosphate transporter in erythroid cells. Kobayashi N, et al. Sci Rep, 2018 Mar 21. PMID 29563527, Free PMC Article
  5. Mfsd2b is essential for the sphingosine-1-phosphate export in erythrocytes and platelets. Vu TM, et al. Nature, 2017 Oct 26. PMID 29045386

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
    Title: An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
  2. Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction.
    Title: Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction.
  3. Using microarray analysis of erythroid cell lines overexpressing human and mouse MFSD2B study showed sphingosine 1-phosphate (S1P) transport activity. The properties of S1P release by MFSD2B were similar to those in erythrocytes. Moreover, knockout of MFSD2B in MEDEP-E14 cells decreased S1P export from the cells. These results strongly suggest that MFSD2B is a novel S1P transporter in erythroid cells.
    Title: MFSD2B is a sphingosine 1-phosphate transporter in erythroid cells.
  4. S1P secretion by Mfsd2b is critical for red blood cell morphology; data reveal an unexpected physiological role of red blood cells in sphingolipid metabolism in circulation; findings open new avenues for investigating the signalling roles of S1P derived from red blood cells and platelets
    Title: Mfsd2b is essential for the sphingosine-1-phosphate export in erythrocytes and platelets.
  5. MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC.
    Title: Variations of chromosome 2 gene expressions among patients with lung cancer or non-cancer.
  6. Results identify Mfsd2a (major facilitator superfamily domain-containing protein 2a) and an additional closely related protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive thermogenesis.
    Title: Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sphingolipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sphingolipid transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sphingolipid transporter activity TAS
Traceable Author Statement
more info
  
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in sphingosine-1-phosphate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sphingosine-1-phosphate transporter MFSD2B
Names
S1P transporter
hMfsd2b
major facilitator superfamily domain containing 2B
major facilitator superfamily domain-containing protein 2b
sphingosine 1-phosphate transporter

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.

mRNA and Protein(s)

  1. NM_001346880.2 → NP_001333809.1  sphingosine-1-phosphate transporter MFSD2B

    Status: VALIDATED

    Source sequence(s)
    AC104665, BX357394, BX369190, BX647146, CX751215, DR007952, DR731151
    Consensus CDS
    CCDS86824.1
    UniProtKB/Swiss-Prot
    A6NFX1, B5MC32, J3KNU6
    UniProtKB/TrEMBL
    A0A2I3JL00
    Related
    ENSP00000342501.4, ENST00000338315.6
    Conserved Domains (1) summary
    pfam13347
    Location:46 → 477
    MFS_2; MFS/sugar transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    24010085..24026775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24044782..24061473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001080473.1: Suppressed sequence

    Description
    NM_001080473.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFX1.4 GenPept UniProtKB/Swiss-Prot:A6NFX1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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