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

    Gene ID: 54842, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 26.0), thyroid (RPKM 22.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD6 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190407576..190502314)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190896829..190991631)
    RS_2024_09 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

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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. HLA-B62 as a possible ligand for the human homologue of mouse macrophage MHC receptor 2 (MMR2) on monocytes. Shimizu T, et al. Gene, 2010 Apr 1. PMID 20123006
    2. Gene-environment interaction in the etiology of mathematical ability using SNP sets. Docherty SJ, et al. Behav Genet, 2011 Jan. PMID 20978832, Free PMC Article
    3. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Bagci H, et al. Nat Cell Biol, 2020 Jan. PMID 31871319

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Gene-environment interaction in the etiology of mathematical ability using SNP sets.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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_001375986.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    2. NM_001375987.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    3. NM_001375988.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    4. NM_001375989.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    5. NM_001375990.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    6. NM_001375992.1 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

    7. NM_001375993.1 → NP_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:1 → 84
      MFS; Major Facilitator Superfamily

    8. NM_001375994.1 → NP_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:1 → 84
      MFS; Major Facilitator Superfamily

    9. NM_017694.4 → NP_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:70 → 622
      MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      D3KSZ4, Q6ZSS7, Q86TH2, Q9NXM3

    2. XM_047444825.1 → XP_047300781.1  major facilitator superfamily domain-containing protein 6 isoform X2

    3. XM_011511368.1 → XP_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:70 → 622
      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_054342657.1 → XP_054198632.1  major facilitator superfamily domain-containing protein 6 isoform X1

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSS7.2 GenPept UniProtKB/Swiss-Prot:Q6ZSS7

    Gene LinkOut

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