MFSD12 Gene (Protein Coding)

Major Facilitator Superfamily Domain Containing 12

GC19M003539
GIFtS:
33

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. Diseases associated with MFSD12 include Dermatosis Papulosa Nigra and Brain Compression. An important paralog of this gene is MFSD2A.

Additional gene information for MFSD12 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 MFSD12 Gene

Genomics for MFSD12 Gene

GeneHancer (GH) Regulatory Elements for MFSD12 Gene

Promoters and enhancers for MFSD12 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFSD12

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 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:
  • 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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for MFSD12 Gene

Gene Ontology (GO) - Molecular Function for MFSD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IBA 21873635
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

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
endosome 1
lysosome 1

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

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

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

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
15 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 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

Expression for MFSD12 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.07 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MFSD12 31
  • 88 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MFSD12 31 30
  • 86.02 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mfsd12 17 31 30
  • 83.33 (n)
rat
(Rattus norvegicus)
 Mammalia Mfsd12 30
  • 82.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia MFSD12 31
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MFSD12 31
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C28H19ORF28 30
  • 74.8 (n)
MFSD12 31
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mfsd12 30
  • 64.56 (n)
Str.19055 30
zebrafish
(Danio rerio)
 Actinopterygii mfsd12a 31
  • 59 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011492 30
  • 52.74 (n)
worm
(Caenorhabditis elegans)
 Secernentea F16H11.1 31 30
  • 45.36 (n)
 OneToOne
rice
(Oryza sativa)
 Liliopsida Os03g0168000 30
  • 47.62 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFSD12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs10424065 Benign: MFSD12 POLYMORPHISM 3,545,024(-) C/T INTRON_VARIANT
rs34196068 Benign: not specified 3,543,480(-) G/GC INTRON_VARIANT
rs10414812 - p.Arg243His
rs2240751 - p.Tyr182His
rs34562175 - p.Ile203Val

Additional dbSNP identifiers (rs#s) for MFSD12 Gene

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

Human Gene Mutation Database (HGMD)
MFSD12
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

MalaCards: The human disease database

(3) MalaCards diseases for MFSD12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dermatosis papulosa nigra
brain compression
  • compression of brain
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MFSD12

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MFSD12: view

No data available for 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 54
  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 54
  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 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

ExternalLinks

View latest publications for MFSD12 gene in Mastermind

Products for MFSD12 Gene

Sources for MFSD12 Gene