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Aliases for MFSD6 Gene

Aliases for MFSD6 Gene

  • Major Facilitator Superfamily Domain Containing 6 2 3 5
  • Macrophage MHC Class I Receptor 2 Homolog 3 4
  • MMR2 3 4
  • Major Facilitator Superfamily Domain-Containing Protein 6 3
  • Macrophage MHC Receptor 2 3
  • HMMR2 3

External Ids for MFSD6 Gene

Previous GeneCards Identifiers for MFSD6 Gene

  • GC02P190981
  • GC02P191273
  • GC02P183132

Summaries for MFSD6 Gene

GeneCards Summary for MFSD6 Gene

MFSD6 (Major Facilitator Superfamily Domain Containing 6) is a Protein Coding gene. An important paralog of this gene is MFSD6L.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD6 Gene

Genomics for MFSD6 Gene

Regulatory Elements for MFSD6 Gene

Enhancers for MFSD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G190477 1.3 Ensembl ENCODE dbSUPER 33.2 +69.8 69808 1.9 HDAC1 TBL1XR1 TAL1 TCF12 FOXM1 GATA2 NCOR1 TRIM24 HES1 SMARCE1 MFSD6 NEMP2 NAB1 ENSG00000233654 HIBCH ENSG00000272979 GC02P190518
GH02G190532 1.4 Ensembl ENCODE 23.2 +126.1 126118 4.8 HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 MFSD6 NAB1 NEMP2 ENSG00000233654 GC02M190517
GH02G190499 1 ENCODE dbSUPER 32.3 +91.9 91860 0.8 GATAD2A FOXA2 CEBPB MAX CEBPG NR3C1 RAD21 YY1 FOXA1 JUND MFSD6 ENSG00000233654 NEMP2 ENSG00000272979 GC02P190518
GH02G190577 1.5 FANTOM5 Ensembl ENCODE 21.5 +170.9 170854 3.4 HDGF PKNOX1 ATF1 TCF12 ELK1 KLF7 NCOA1 ZNF592 SMARCA4 MYNN MFSD6 NEMP2 ENSG00000233654 ENSG00000228509 NAB1 INPP1 GC02M190569
GH02G190605 1.4 Ensembl ENCODE dbSUPER 22.9 +199.1 199061 3.4 TBP HDGF PKNOX1 NFIB SIN3A TCF12 EGR1 RELB FOS IKZF2 NEMP2 NAB1 MFSD6 ENSG00000233654 ENSG00000228509 GC02M190569
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFSD6 on UCSC Golden Path with GeneCards custom track

Promoters for MFSD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127853 245 1601 ZFP64 SIN3A GLIS2 ZNF263 REST GLIS1 CTCF SUZ12 BACH1 UBTF

Genomic Location for MFSD6 Gene

Chromosome:
2
Start:
190,408,355 bp from pter
End:
190,509,205 bp from pter
Size:
100,851 bases
Orientation:
Plus strand

Genomic View for MFSD6 Gene

Genes around MFSD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD6 Gene

Proteins for MFSD6 Gene

  • Protein details for MFSD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSS7-MFSD6_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 6
    Protein Accession:
    Q6ZSS7
    Secondary Accessions:
    • D3KSZ4
    • Q86TH2
    • Q9NXM3

    Protein attributes for MFSD6 Gene

    Size:
    791 amino acids
    Molecular mass:
    88088 Da
    Quaternary structure:
    • May interact with HLA-B62.
    SequenceCaution:
    • Sequence=AAY24173.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAX10868.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MFSD6 Gene

Post-translational modifications for MFSD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MFSD6 Gene

Domains & Families for MFSD6 Gene

Protein Domains for MFSD6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD6 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZSS7

UniProtKB/Swiss-Prot:

MFSD6_HUMAN :
  • Belongs to the major facilitator superfamily. MFSD6 family.
Family:
  • Belongs to the major facilitator superfamily. MFSD6 family.
genes like me logo Genes that share domains with MFSD6: view

No data available for Gene Families for MFSD6 Gene

Function for MFSD6 Gene

Phenotypes for MFSD6 Gene

genes like me logo Genes that share phenotypes with MFSD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFSD6 Gene

Localization for MFSD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD6 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for MFSD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD6: view

Pathways & Interactions for MFSD6 Gene

SuperPathways for MFSD6 Gene

No Data Available

Interacting Proteins for MFSD6 Gene

Gene Ontology (GO) - Biological Process for MFSD6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MFSD6 Gene

Transcripts for MFSD6 Gene

Unigene Clusters for MFSD6 Gene

Major facilitator superfamily domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD6 Gene

No ASD Table

Relevant External Links for MFSD6 Gene

GeneLoc Exon Structure for
MFSD6
ECgene alternative splicing isoforms for
MFSD6

Expression for MFSD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFSD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFSD6 Gene

This gene is overexpressed in Nasal epithelium (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MFSD6 Gene



NURSA nuclear receptor signaling pathways regulating expression of MFSD6 Gene:

MFSD6

SOURCE GeneReport for Unigene cluster for MFSD6 Gene:

Hs.418581

mRNA Expression by UniProt/SwissProt for MFSD6 Gene:

Q6ZSS7-MFSD6_HUMAN
Tissue specificity: Widely expressed. Expression levels in peripheral blood mononuclear cells are highly variable between individuals, including no expression at all.

Evidence on tissue expression from TISSUES for MFSD6 Gene

  • Nervous system(4.6)
  • Intestine(4.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MFSD6: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD6 Gene

Orthologs for MFSD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFSD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFSD6 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia MFSD6 34 35
  • 88.48 (n)
dog
(Canis familiaris)
Mammalia MFSD6 34 35
  • 87.13 (n)
mouse
(Mus musculus)
Mammalia Mfsd6 34 16 35
  • 86.5 (n)
rat
(Rattus norvegicus)
Mammalia Mfsd6 34
  • 85.7 (n)
oppossum
(Monodelphis domestica)
Mammalia MFSD6 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD6 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFSD6 34 35
  • 73.87 (n)
lizard
(Anolis carolinensis)
Reptilia MFSD6 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd6 34
  • 66.81 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd6a 34 35
  • 61.39 (n)
mfsd6b 35
  • 51 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10268 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003204 34
  • 52.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12858 34 35
  • 51.18 (n)
worm
(Caenorhabditis elegans)
Secernentea R13A5.9 34 35
  • 45.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
-- 35
  • 23 (a)
OneToMany
-- 35
  • 22 (a)
OneToMany
Species where no ortholog for MFSD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MFSD6 Gene

ENSEMBL:
Gene Tree for MFSD6 (if available)
TreeFam:
Gene Tree for MFSD6 (if available)

Paralogs for MFSD6 Gene

Paralogs for MFSD6 Gene

genes like me logo Genes that share paralogs with MFSD6: view

Variants for MFSD6 Gene

Sequence variations from dbSNP and Humsavar for MFSD6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000002920 -- 190,461,846(+) TTTAA(-/T)TTTTT intron-variant
rs1000018158 -- 190,499,584(+) AGAAC(C/G)CCTTA intron-variant
rs1000026890 -- 190,460,331(+) TTTTT(A/T)AAGTC intron-variant
rs1000065536 -- 190,413,625(+) TAAAA(-/AGG)AGGAA intron-variant
rs1000078690 -- 190,460,536(+) GACTA(C/T)TTACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFSD6 Gene

Variant ID Type Subtype PubMed ID
dgv1198e212 CNV loss 25503493
dgv1199e212 CNV loss 25503493
esv1062211 CNV insertion 17803354
esv2318138 CNV deletion 18987734
esv2721268 CNV deletion 23290073
esv33134 CNV gain 17666407
esv3593754 CNV loss 21293372
esv3593755 CNV loss 21293372
esv3593756 CNV loss 21293372
nsv1143967 CNV deletion 24896259

Variation tolerance for MFSD6 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.85; 89.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFSD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD6 Gene

Disorders for MFSD6 Gene

Relevant External Links for MFSD6

Genetic Association Database (GAD)
MFSD6
Human Genome Epidemiology (HuGE) Navigator
MFSD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFSD6

No disorders were found for MFSD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MFSD6 Gene

Publications for MFSD6 Gene

  1. 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. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. HLA-B62 as a possible ligand for the human homologue of mouse macrophage MHC receptor 2 (MMR2) on monocytes. (PMID: 20123006) Shimizu T. … Yoshida R. (Gene 2010) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for MFSD6 Gene

Sources for MFSD6 Gene

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