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Aliases for MFSD12 Gene

Aliases for MFSD12 Gene

  • Major Facilitator Superfamily Domain Containing 12 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 12 3 4
  • C19orf28 3 4
  • 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. An important paralog of this gene is MFSD2B.

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

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
GH19J003550 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 613.8 +19.2 19167 8.7 HDGF CC2D1A SP1 ZFX ELF3 NKRF MLLT1 POLR2A GTF2F1 ZNF687 MFSD12 CACTIN ZNF77 YJU2 CACTIN-AS1 C19orf71 APBA3 ENSG00000267030 ENSG00000267769 HDGFL2
GH19J003570 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 620.2 -0.3 -320 8 HDGF SP1 ZNF652 CTCF ZNF148 ZNF121 CEBPG CSDE1 ZSCAN21 ZBTB7A MFSD12 HMG20B CACTIN ZNF77 CACTIN-AS1 YJU2 GIPC3 ENSG00000267980
GH19J003504 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 30.9 +65.8 65844 7.8 SP1 ZFX ELF3 MNT ZNF148 NKRF CSDE1 ZSCAN21 ZBTB7A SP7 FZR1 MFSD12 C19orf71 DOHH GC19M003522 ENSG00000252408
GH19J003516 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +55.5 55481 6.8 SP1 ZFX CBFA2T2 MLLT1 CEBPG TRIM24 EGR1 ZNF639 SMARCA4 MTA1 MFSD12 C19orf71 FZR1 GC19M003522 ENSG00000252408
GH19J003535 Enhancer 1.2 Ensembl ENCODE dbSUPER 33.1 +36.5 36491 4.1 ZNF121 SP7 POLR2A ZNF600 ZNF639 ZNF341 ZNF239 SP2 CHD2 ZNF524 C19orf71 PIR47601 MFSD12 ZNF77 ZNF555 CACTIN HDGFL2 GC19P003535 PIR52859 FZR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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)
Size:
36,030 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for MFSD12 Gene

Proteins for MFSD12 Gene

  • 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

Post-translational modifications for MFSD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • Uncharacterized MFS-type transporter C19orf28 (CS028_HUMAN)
  • Chromosome 19 open reading frame 28, isoform CRA_b (Q9HBP8_HUMAN)

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

Phenotypes From GWAS Catalog for MFSD12 Gene

Gene Ontology (GO) - Molecular Function for MFSD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with MFSD12: view
genes like me logo Genes that share phenotypes with MFSD12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD12

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for MFSD12 - Now 50% OFF >
  • * MFSD12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MFSD12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
plasma membrane 4
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:0005887 integral component of plasma membrane IBA 21873635
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

PathCards logo

SuperPathways for MFSD12 Gene

No Data Available

Interacting Proteins for MFSD12 Gene

Gene Ontology (GO) - Biological Process for MFSD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008643 carbohydrate transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0071702 organic substance transport IBA 21873635
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

No Compound Related Data Available

Transcripts for MFSD12 Gene

Unigene Clusters for MFSD12 Gene

Major facilitator superfamily domain containing 12:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for MFSD12 - Now 50% OFF >
  • * MFSD12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MFSD12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 35 34
  • 99.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD12 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFSD12 35 34
  • 86.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd12 17 35 34
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Mfsd12 34
  • 82.61 (n)
oppossum
(Monodelphis domestica)
Mammalia MFSD12 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD12 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves C28H19ORF28 34
  • 74.8 (n)
MFSD12 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd12 34
  • 64.56 (n)
Str.19055 34
zebrafish
(Danio rerio)
Actinopterygii mfsd12a 35
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011492 34
  • 52.74 (n)
worm
(Caenorhabditis elegans)
Secernentea F16H11.1 35 34
  • 45.36 (n)
OneToOne
rice
(Oryza sativa)
Liliopsida Os03g0168000 34
  • 47.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFSD12: view image

Paralogs for MFSD12 Gene

Paralogs for MFSD12 Gene

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

  • MFS12_HUMAN
  • K7EJS5_HUMAN
  • K7EKU1_HUMAN
  • K7ENE1_HUMAN
  • K7EQ22_HUMAN
  • K7ERJ8_HUMAN
genes like me logo Genes that share paralogs with MFSD12: view

Variants for MFSD12 Gene

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/CCCCC/CCCCCC/CCCCCCCC/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
Human Gene Mutation Database (HGMD)
MFSD12

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

Disorders for MFSD12 Gene

Additional Disease Information for MFSD12

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. Bioinformatics-based analysis reveals elevated MFSD12 as a key promoter of cell proliferation and a potential therapeutic target in melanoma. (PMID: 30385854) Wei CY … Gu JY (Oncogene 2019) 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for MFSD12 Gene

Sources for MFSD12 Gene

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