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

Gene ID: 54842, updated on 2-Nov-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, Nov 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 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)

Genotypes

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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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

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