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

    Gene ID: 388931, updated on 11-Apr-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 integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bone marrow (RPKM 2.9), placenta (RPKM 0.3) and 1 other tissue See more
    Orthologs
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24010085..24026775)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24044782..24061473)
    105.20220307 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 succinate dehydrogenase complex subunit C 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. 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
    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. Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction. Polzin A, et al. Nat Commun, 2023 Apr 26. PMID 37100836, 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 (17) 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 IEA
    Inferred from Electronic Annotation
    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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    NEW Try the new Transcript table

    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_2023_10

    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.

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