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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
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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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