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

Gene ID: 54842, updated on 10-Oct-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 26.0), thyroid (RPKM 22.9) and 23 other tissues See more
Orthologs

Genomic context

See MFSD6 in Genome Data Viewer
Location:
2q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (190407576..190502314)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191273081..191367041)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene uncharacterized LOC105373802 Neighboring gene nuclear envelope integral membrane protein 2 Neighboring gene uncharacterized LOC105376748 Neighboring gene RN7SK pseudogene 179 Neighboring gene NGFI-A binding protein 1

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

Homology

Clone Names

  • FLJ20160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    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
    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
    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
  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
  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
  7. NM_001375993.1NP_001362922.1  major facilitator superfamily domain-containing protein 6 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC093388
    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
    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
    Q6ZSS7
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. 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
    Q6ZSS7
    Conserved Domains (1) summary
    cd17335
    Location:70622
    MFS_MFSD6; Major facilitator superfamily domain-containing protein 6

RNA

  1. XR_002959308.1 RNA Sequence

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