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    MFSD6 major facilitator superfamily domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 54842, updated on 17-Jun-2024

    Summary

    Official Symbol
    MFSD6provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:24711
    See related
    Ensembl:ENSG00000151690 MIM:613476; AllianceGenome:HGNC:24711
    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
    MMR2; hMMR2
    Summary
    Predicted to enable MHC class I protein binding activity and MHC class I receptor activity. Predicted to be involved in antigen processing and presentation of exogenous peptide antigen via MHC class I. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 26.0), thyroid (RPKM 22.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MFSD6 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190407576..190502314)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190896829..190991631)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191272302..191367040)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene nuclear envelope integral membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12179 Neighboring gene uncharacterized LOC124906136 Neighboring gene NEMP2 divergent transcript Neighboring gene RN7SK pseudogene 179

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    major facilitator superfamily domain-containing protein 6
    Names
    macrophage MHC class I receptor 2 homolog
    macrophage MHC receptor 2

    NCBI Reference Sequences (RefSeq)

    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_001375986.1NP_001362915.1  major facilitator superfamily domain-containing protein 6 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-4 all encode the same isoform (a).
      Source sequence(s)
      AC092178, AC093388
      Consensus CDS
      CCDS2306.1
      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    2. NM_001375987.1NP_001362916.1  major facilitator superfamily domain-containing protein 6 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.
      Source sequence(s)
      AC092178, AC093388
      Consensus CDS
      CCDS2306.1
      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
      Related
      ENSP00000281416.7, ENST00000281416.11
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    3. NM_001375988.1NP_001362917.1  major facilitator superfamily domain-containing protein 6 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3, encodes isoform a.
      Source sequence(s)
      AC092178, AC093388
      Consensus CDS
      CCDS2306.1
      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    4. NM_001375989.1NP_001362918.1  major facilitator superfamily domain-containing protein 6 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 6 and 7, encodes isoform b.
      Source sequence(s)
      AC092178, AC093388
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    5. NM_001375990.1NP_001362919.1  major facilitator superfamily domain-containing protein 6 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 5 and 7, encodes isoform b.
      Source sequence(s)
      AC092178, AC093388
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    6. NM_001375992.1NP_001362921.1  major facilitator superfamily domain-containing protein 6 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform b.
      Source sequence(s)
      AC092178, AC093388
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6
    7. NM_001375993.1NP_001362922.1  major facilitator superfamily domain-containing protein 6 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC093388
      UniProtKB/TrEMBL
      B7Z7Y2, B7Z810
      Conserved Domains (1) summary
      cl28910
      Location:184
      MFS; Major Facilitator Superfamily
    8. NM_001375994.1NP_001362923.1  major facilitator superfamily domain-containing protein 6 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC093388
      UniProtKB/TrEMBL
      C9IYL1
      Related
      ENSP00000406837.1, ENST00000444317.1
      Conserved Domains (1) summary
      cl28910
      Location:184
      MFS; Major Facilitator Superfamily
    9. NM_017694.4NP_060164.3  major facilitator superfamily domain-containing protein 6 isoform a

      See identical proteins and their annotated locations for NP_060164.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 1, 3, and 4, encodes isoform a.
      Source sequence(s)
      AC092178, AC093388, AK127176
      Consensus CDS
      CCDS2306.1
      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
      Related
      ENSP00000376141.1, ENST00000392328.6
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    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
      190407576..190502314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444824.1XP_047300780.1  major facilitator superfamily domain-containing protein 6 isoform X1

      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
    2. XM_047444825.1XP_047300781.1  major facilitator superfamily domain-containing protein 6 isoform X2

    3. XM_011511368.1XP_011509670.1  major facilitator superfamily domain-containing protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011509670.1

      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3
      Conserved Domains (1) summary
      cd17335
      Location:70622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190896829..190991631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342657.1XP_054198632.1  major facilitator superfamily domain-containing protein 6 isoform X1

    2. XM_054342658.1XP_054198633.1  major facilitator superfamily domain-containing protein 6 isoform X2

    3. XM_054342656.1XP_054198631.1  major facilitator superfamily domain-containing protein 6 isoform X1