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MFSD12 Gene(Protein Coding)

Major Facilitator Superfamily Domain Containing 12

GCID:
GC19M003539
GIFtS:
38
Genes Participants
UDN Logo

Aliases for MFSD12 Gene

Aliases for MFSD12 Gene

  • Major Facilitator Superfamily Domain Containing 12 2 3 5
  • C19orf28 3 4
  • Major Facilitator Superfamily Domain-Containing Protein 12 3
  • Chromosome 19 Open Reading Frame 28 2
  • PP3501 3

External Ids for MFSD12 Gene

Previous HGNC Symbols for MFSD12 Gene

  • C19orf28

Summaries for MFSD12 Gene

GeneCards Summary for MFSD12 Gene

MFSD12 (Major Facilitator Superfamily Domain Containing 12) is a Protein Coding gene.

Additional gene information for MFSD12 Gene

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 MFSD12 Gene

Genomics for MFSD12 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MFSD12 Gene

Promoters and enhancers for MFSD12 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
GH19I003570 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.3 -0.3 -338 8 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZNF143 FOS MFSD12 HMG20B CACTIN ZNF77 CCDC94 CACTIN-AS1 ENSG00000267980 GIPC3
GH19I003550 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.8 +19.2 19167 8.7 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 MFSD12 CACTIN C19orf71 CCDC94 ZNF77 FZR1 GNA11 ENSG00000267030 CACTIN-AS1 TLE2
GH19I003504 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 30.9 +65.8 65844 7.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 FZR1 MFSD12 C19orf71 DOHH GC19M003522 ENSG00000252408
GH19I003535 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 33.1 +36.5 36491 4.1 KLF17 ZBTB7B ZEB1 ZNF121 ZNF213 EGR2 SMARCA5 ZNF280D ZNF623 NFIC C19orf71 PIR47601 MFSD12 ZNF77 ZNF555 CACTIN HDGFL2 PIR52859 GC19P003535 FZR1
GH19I003517 Enhancer 1.4 FANTOM5 Ensembl ENCODE 32.4 +54.3 54284 4.4 HDGF PKNOX1 ATF1 ARNT SIN3A TCF12 ZNF766 GATA2 FOS ATF7 GC19M003522 ENSG00000252408 MFSD12 C19orf71 FZR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFSD12 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MFSD12 Gene

Genomic Locations for MFSD12 Gene
chr19:3,538,261-3,574,290
(GRCh38/hg38)
Size:
36,030 bases
Orientation:
Minus strand
chr19:3,538,259-3,574,288
(GRCh37/hg19)

Genomic View for MFSD12 Gene

Genes around MFSD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MFSD12 Gene

Proteins for MFSD12 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MFSD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUT3-MFS12_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 12
    Protein Accession:
    Q6NUT3
    Secondary Accessions:
    • A8MXP7
    • D6W615
    • E9PAJ8
    • Q8N459

    Protein attributes for MFSD12 Gene

    Size:
    480 amino acids
    Molecular mass:
    52075 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MFSD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFSD12 Gene

Protein Expression for MFSD12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MFSD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MFSD12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFSD12 Gene

Domains & Families for MFSD12 Gene

Gene Families for MFSD12 Gene

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

Protein Domains for MFSD12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NUT3

UniProtKB/Swiss-Prot:

MFS12_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD12: view

Function for MFSD12 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
genes like me logo Genes that share phenotypes with MFSD12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD12

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFSD12 Gene

Localization for MFSD12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD12 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 MFSD12 gene
Compartment Confidence
lysosome 5
plasma membrane 3
mitochondrion 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFSD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD12: view

Pathways & Interactions for MFSD12 Gene

SuperPathways for MFSD12 Gene

PathCards logo More details on SuperPathways for MFSD12
No Data Available

Interacting Proteins for MFSD12 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381566%0d%0a9606.ENSP00000301305%0d%0a
Selected Interacting proteins: Q6NUT3-MFS12_HUMAN ENSP00000381566 for MFSD12 Gene via IID STRING

Gene Ontology (GO) - Biological Process for MFSD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with MFSD12: view

No data available for Pathways by source and SIGNOR curated interactions for MFSD12 Gene

Drugs & Compounds for MFSD12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MFSD12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MFSD12 Gene

(8) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(289) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MFSD12 Gene

Major facilitator superfamily domain containing 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD12 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1:
SP2: -
SP3:

Relevant External Links for MFSD12 Gene

GeneLoc Exon Structure for
MFSD12
ECgene alternative splicing isoforms for
MFSD12

Expression for MFSD12 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFSD12 Gene

mRNA expression in normal human tissues for MFSD12 Gene
mRNA expression by GTEx for MFSD12 GenemRNA expression by BioGPS for MFSD12 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MFSD12 Gene



NURSA nuclear receptor signaling pathways regulating expression of MFSD12 Gene:

MFSD12

SOURCE GeneReport for Unigene cluster for MFSD12 Gene:

Hs.656901

Evidence on tissue expression from TISSUES for MFSD12 Gene

  • Skin(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MFSD12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD12 Gene

Orthologs for MFSD12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MFSD12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MFSD12 33 34
  • 99.07 (n)
cow
(Bos Taurus)
 Mammalia MFSD12 34
  • 88 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MFSD12 33 34
  • 86.02 (n)
mouse
(Mus musculus)
 Mammalia Mfsd12 33 16 34
  • 83.33 (n)
rat
(Rattus norvegicus)
 Mammalia Mfsd12 33
  • 82.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia MFSD12 34
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MFSD12 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C28H19ORF28 33
  • 74.8 (n)
MFSD12 34
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mfsd12 33
  • 64.56 (n)
Str.19055 33
zebrafish
(Danio rerio)
 Actinopterygii mfsd12a 34
  • 59 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011492 33
  • 52.74 (n)
worm
(Caenorhabditis elegans)
 Secernentea F16H11.1 33 34
  • 45.36 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0168000 33
  • 47.62 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 46 (a)
 OneToOne
Species where no ortholog for MFSD12 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 MFSD12 Gene

ENSEMBL:
Gene Tree for MFSD12 (if available)
TreeFam:
Gene Tree for MFSD12 (if available)

Paralogs for MFSD12 Gene

(20) SIMAP similar genes for MFSD12 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with MFSD12: view

No data available for Paralogs for MFSD12 Gene

Variants for MFSD12 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MFSD12 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs34196068 benign, not specified 3,543,481(-) CCCCCCCCCCC/CCCCCC/CCCCCCCCC/CCCCCCCCCC/CCCCCCCCCCCC/CCCCCCCCCCCCC/CCCCCCCCCCCCCC/CCCCCCCCCCCCCCC genic_downstream_transcript_variant, intron_variant
rs1000194338 -- 3,555,253(-) C/T intron_variant
rs1000536816 -- 3,546,863(-) T/C intron_variant
rs1000618834 -- 3,553,326(-) G/A intron_variant
rs1000803191 -- 3,554,195(-) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MFSD12 Gene

Variant ID Type Subtype PubMed ID
esv1009517 CNV insertion 20482838
esv1722786 CNV insertion 17803354
nsv1129615 CNV tandem duplication 24896259
nsv470114 CNV loss 18288195
nsv953948 CNV deletion 24416366

Variation tolerance for MFSD12 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFSD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD12 Gene

Disorders for MFSD12 Gene

Additional Disease Information for MFSD12

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MFSD12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MFSD12 Gene

Publications for MFSD12 Gene

  1. 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) 3 4 58
  2. 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) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for MFSD12 Gene

Sources for MFSD12 Gene

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