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    MFSD3 major facilitator superfamily domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 113655, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MFSD3provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:25157
    See related
    Ensembl:ENSG00000167700 MIM:620308; AllianceGenome:HGNC:25157
    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
    SLC33A2
    Summary
    Predicted to enable solute:proton symporter activity. Predicted to be involved in proton transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 7.9), colon (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144509070..144511213)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145678836..145680979)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145734453..145736596)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19696 Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145709653-145710352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145710353-145711052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145715271-145715770 Neighboring gene uncharacterized LOC101928953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145725199-145725860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19697 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145729171-145729831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19698 Neighboring gene glutamic--pyruvic transaminase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145735245-145735868 Neighboring gene RecQ like helicase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145746055-145746717 Neighboring gene leucine rich repeat containing 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145747722-145747910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145749372-145750034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145750035-145750697 Neighboring gene leucine rich repeat containing 24

    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. Association of MFSD3 promoter methylation level and weight regain after gastric bypass: Assessment for 3 y after surgery. Nicoletti CF, et al. Nutrition, 2020 Feb. PMID 31655468
    2. Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies. Shigemizu D, et al. Am J Med Genet B Neuropsychiatr Genet, 2022 Jul. PMID 35765761, Free PMC Article
    3. The Novel Membrane-Bound Proteins MFSD1 and MFSD3 are Putative SLC Transporters Affected by Altered Nutrient Intake. Perland E, et al. J Mol Neurosci, 2017 Feb. PMID 27981419, Free PMC Article
    4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. Rietveld CA, et al. Proc Natl Acad Sci U S A, 2014 Sep 23. PMID 25201988, Free PMC Article
    5. Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis. Zang W, et al. Proc Natl Acad Sci U S A, 2019 Dec 17. PMID 31796584, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.
      Title: Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.
    2. Association of MFSD3 promoter methylation level and weight regain after gastric bypass: Assessment for 3 y after surgery.
      Title: Association of MFSD3 promoter methylation level and weight regain after gastric bypass: Assessment for 3 y after surgery.
    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
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    major facilitator superfamily domain-containing protein 3
    Names
    solute carrier family 33 member 2

    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_138431.3 → NP_612440.1  major facilitator superfamily domain-containing protein 3

      See identical proteins and their annotated locations for NP_612440.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      BC011982, DB455059, DB520468
      Consensus CDS
      CCDS6431.1
      UniProtKB/Swiss-Prot
      Q96ES6
      Related
      ENSP00000301327.3, ENST00000301327.5
      Conserved Domains (1) summary
      cl21472
      Location:16 → 364
      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 ...

    RNA

    1. NR_130120.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon 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)
      BC011982, BF688676, DB455059, DB520468
      Related
      ENST00000528047.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144509070..144511213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013005.2 → XP_016868494.1  major facilitator superfamily domain-containing protein 3 isoform X1

    2. XM_011516806.3 → XP_011515108.1  major facilitator superfamily domain-containing protein 3 isoform X2

      Conserved Domains (1) summary
      cl21472
      Location:8 → 172
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145678836..145680979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359686.1 → XP_054215661.1  major facilitator superfamily domain-containing protein 3 isoform X1

    2. XM_054359687.1 → XP_054215662.1  major facilitator superfamily domain-containing protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ES6.1 GenPept UniProtKB/Swiss-Prot:Q96ES6

    Gene LinkOut

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

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