Aliases for MFSD6L Gene

Aliases for MFSD6L Gene

  • Major Facilitator Superfamily Domain Containing 6 Like 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 6-Like 3 4
  • Major Facilitator Superfamily Domain Containing 6-Like 2

External Ids for MFSD6L Gene

Previous GeneCards Identifiers for MFSD6L Gene

  • GC17M008642
  • GC17M008700

Summaries for MFSD6L Gene

GeneCards Summary for MFSD6L Gene

MFSD6L (Major Facilitator Superfamily Domain Containing 6 Like) is a Protein Coding gene. Diseases associated with MFSD6L include Glycoproteinosis and Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease. An important paralog of this gene is MFSD6.

Additional gene information for MFSD6L Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFSD6L Gene

Genomics for MFSD6L Gene

GeneHancer (GH) Regulatory Elements for MFSD6L Gene

Promoters and enhancers for MFSD6L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J008798 Promoter/Enhancer 0.9 Ensembl ENCODE 509 +0.1 54 1.4 TEAD4 CTCF GABPA EZH2 POLR2A TCF12 PHF8 RAD21 NFATC1 TAF1 MFSD6L piR-32789
GH17J008744 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.3 +53.5 53531 2.3 HNRNPK CTCF ZSCAN5C TCF12 NCOR1 POLR2A ZNF423 ZBTB26 RFX1 TGIF2 CCDC42 LOC105371529 lnc-NDEL1-7 SPDYE4 ODF4 MFSD6L
GH17J008791 Enhancer 0.7 ENCODE 16.9 +7.4 7366 1.1 ZSCAN5C JUND TEAD4 ZNF639 CTCF HDAC2 RBM25 CEBPB JUN ZNF8 HSALNG0114469 MFSD6L CCDC42 SPDYE4 piR-32789
GH17J008785 Enhancer 0.7 ENCODE 12.2 +13.4 13387 0.2 CTCF GABPA REST RAD21 TRIM22 SMC3 ZSCAN5A ZBTB48 IKZF3 IKZF1 MFSD6L CCDC42 SPDYE4 HSALNG0114469 LOC105371530
GH17J008364 Enhancer 0.9 FANTOM5 Ensembl ENCODE 8.9 +433.4 433384 2.4 STAT3 STAT1 ATF2 JUN FOS POLR2A CEBPB ZNF600 ENSG00000265749 RF00017-2273 piR-31432-273 piR-53431-275 ODF4 CCDC42 SPDYE4 ENSG00000212206 ENSG00000226871 RNF222
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFSD6L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFSD6L

Top Transcription factor binding sites by QIAGEN in the MFSD6L gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • USF2

Genomic Locations for MFSD6L Gene

Genomic Locations for MFSD6L Gene
chr17:8,797,110-8,799,365
(GRCh38/hg38)
Size:
2,256 bases
Orientation:
Minus strand
chr17:8,700,428-8,702,667
(GRCh37/hg19)
Size:
2,240 bases
Orientation:
Minus strand

Genomic View for MFSD6L Gene

Genes around MFSD6L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD6L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD6L Gene

Proteins for MFSD6L Gene

  • Protein details for MFSD6L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWD5-MFS6L_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 6-like
    Protein Accession:
    Q8IWD5
    Secondary Accessions:
    • Q6YL34
    • Q8NA76

    Protein attributes for MFSD6L Gene

    Size:
    586 amino acids
    Molecular mass:
    64005 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM98769.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for MFSD6L Gene

Post-translational modifications for MFSD6L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MFSD6L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFSD6L Gene

Domains & Families for MFSD6L Gene

Gene Families for MFSD6L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MFSD6L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD6L Gene

GenScript: Design optimal peptide antigens:
  • Major facilitator superfamily domain-containing protein 6-like (MFS6L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IWD5

UniProtKB/Swiss-Prot:

MFS6L_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 MFSD6L: view

Function for MFSD6L Gene

Phenotypes From GWAS Catalog for MFSD6L Gene

genes like me logo Genes that share phenotypes with MFSD6L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD6L

CRISPR Products

miRNA for MFSD6L Gene

miRTarBase miRNAs that target MFSD6L

Clone 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 MFSD6L Gene

Localization for MFSD6L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD6L 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 MFSD6L gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for MFSD6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD6L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFSD6L Gene

Pathways & Interactions for MFSD6L Gene

PathCards logo

SuperPathways for MFSD6L Gene

No Data Available

Interacting Proteins for MFSD6L Gene

;

Gene Ontology (GO) - Biological Process for MFSD6L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MFSD6L Gene

Drugs & Compounds for MFSD6L Gene

No Compound Related Data Available

Transcripts for MFSD6L Gene

mRNA/cDNA for MFSD6L Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD6L Gene

No ASD Table

Relevant External Links for MFSD6L Gene

GeneLoc Exon Structure for
MFSD6L

Expression for MFSD6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFSD6L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFSD6L Gene

This gene is overexpressed in Testis (x22.2), Pancreas (x5.6), and Pituitary (x4.1).

Protein differential expression in normal tissues from HIPED for MFSD6L Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFSD6L Gene



Protein tissue co-expression partners for MFSD6L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFSD6L

SOURCE GeneReport for Unigene cluster for MFSD6L Gene:

Hs.213603
genes like me logo Genes that share expression patterns with MFSD6L: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD6L Gene

Orthologs for MFSD6L Gene

This gene was present in the common ancestor of animals.

Orthologs for MFSD6L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFSD6L 31 30
  • 98.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD6L 31 30
  • 79.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFSD6L 31 30
  • 78.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfsd6l 30
  • 77.44 (n)
mouse
(Mus musculus)
Mammalia Mfsd6l 17 31 30
  • 77.34 (n)
oppossum
(Monodelphis domestica)
Mammalia MFSD6L 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFSD6L 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd6l 30
  • 53.22 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd6l 31 30
  • 49.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sug 31
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToOne
Species where no ortholog for MFSD6L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MFSD6L Gene

ENSEMBL:
Gene Tree for MFSD6L (if available)
TreeFam:
Gene Tree for MFSD6L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFSD6L: view image

Paralogs for MFSD6L Gene

Paralogs for MFSD6L Gene

genes like me logo Genes that share paralogs with MFSD6L: view

Variants for MFSD6L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFSD6L Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs2242373 - p.Arg486His

Additional dbSNP identifiers (rs#s) for MFSD6L Gene

Structural Variations from Database of Genomic Variants (DGV) for MFSD6L Gene

Variant ID Type Subtype PubMed ID
nsv1969 CNV deletion 18451855
nsv518675 CNV gain 19592680
nsv953828 CNV deletion 24416366

Variation tolerance for MFSD6L Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.71; 95.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFSD6L Gene

Human Gene Mutation Database (HGMD)
MFSD6L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD6L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD6L Gene

Disorders for MFSD6L Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFSD6L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MFSD6L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MFSD6L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFSD6L Gene

Publications for MFSD6L Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 4 54
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for MFSD6L Gene

Sources for MFSD6L Gene