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Aliases for MFI2 Gene

Aliases for MFI2 Gene

  • Antigen P97 (Melanoma Associated) Identified By Monoclonal Antibodies 133.2 And 96.5 2 3
  • Membrane-Bound Transferrin-Like Protein 2 3
  • Melanoma-Associated Antigen P97 3 4
  • MAP97 3 4
  • Melanotransferrin 2
  • CD228 Antigen 4
  • CD228 3
  • MTF1 3
  • MTF 3

External Ids for MFI2 Gene

Previous GeneCards Identifiers for MFI2 Gene

  • GC03M192695
  • GC03M197078
  • GC03M198136
  • GC03M198056
  • GC03M198218
  • GC03M196715
  • GC03M194028

Summaries for MFI2 Gene

Entrez Gene Summary for MFI2 Gene

  • The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for MFI2 Gene

MFI2 (Antigen P97 (Melanoma Associated) Identified By Monoclonal Antibodies 133.2 And 96.5) is a Protein Coding gene. Diseases associated with MFI2 include melanotic neuroectodermal tumor and melanoma. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include iron ion binding and ferric iron binding. An important paralog of this gene is TF.

UniProtKB/Swiss-Prot for MFI2 Gene

  • Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc.

Gene Wiki entry for MFI2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFI2 Gene

Genomics for MFI2 Gene

Regulatory Elements for MFI2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MFI2 Gene

Chromosome:
3
Start:
196,987,559 bp from pter
End:
197,029,816 bp from pter
Size:
42,258 bases
Orientation:
Minus strand

Genomic View for MFI2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFI2 Gene

Proteins for MFI2 Gene

  • Protein details for MFI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08582-TRFM_HUMAN
    Recommended name:
    Melanotransferrin
    Protein Accession:
    P08582
    Secondary Accessions:
    • Q9BQE2

    Protein attributes for MFI2 Gene

    Size:
    738 amino acids
    Molecular mass:
    80215 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MFI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFI2 Gene

Proteomics data for MFI2 Gene at MOPED

Post-translational modifications for MFI2 Gene

  • Glycosylation at Asn 38, Asn 135, and Asn 515
  • Modification sites at PhosphoSitePlus

Other Protein References for MFI2 Gene

Antibody Products

  • R&D Systems Antibodies for MFI2 (Melanotransferrin/CD228)

No data available for DME Specific Peptides for MFI2 Gene

Domains & Families for MFI2 Gene

Gene Families for MFI2 Gene

Protein Domains for MFI2 Gene

Suggested Antigen Peptide Sequences for MFI2 Gene

Graphical View of Domain Structure for InterPro Entry

P08582

UniProtKB/Swiss-Prot:

TRFM_HUMAN :
  • Contains 2 transferrin-like domains.
  • Belongs to the transferrin family.
Domain:
  • Contains 2 transferrin-like domains.
Family:
  • Belongs to the transferrin family.
genes like me logo Genes that share domains with MFI2: view

Function for MFI2 Gene

Molecular function for MFI2 Gene

GENATLAS Biochemistry:
antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5
UniProtKB/Swiss-Prot Function:
Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc.

Gene Ontology (GO) - Molecular Function for MFI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IMP 7556058
GO:0005515 protein binding IPI 19815549
genes like me logo Genes that share ontologies with MFI2: view
genes like me logo Genes that share phenotypes with MFI2: view

Animal Models for MFI2 Gene

MGI Knock Outs for MFI2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MFI2 Gene

Localization for MFI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFI2 Gene

Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFI2 Gene COMPARTMENTS Subcellular localization image for MFI2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MFI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IEA --
GO:0005887 integral component of plasma membrane TAS 2419904
GO:0009986 cell surface IDA 7556058
GO:0046658 anchored component of plasma membrane IDA 7556058
genes like me logo Genes that share ontologies with MFI2: view

Pathways & Interactions for MFI2 Gene

genes like me logo Genes that share pathways with MFI2: view

Gene Ontology (GO) - Biological Process for MFI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 NOT regulation of cell growth IMP 7556058
GO:0010756 positive regulation of plasminogen activation IDA 16713448
GO:0042127 NOT regulation of cell proliferation IMP 7556058
GO:0055072 iron ion homeostasis IEA --
GO:0090091 positive regulation of extracellular matrix disassembly IDA 16713448
genes like me logo Genes that share ontologies with MFI2: view

No data available for SIGNOR curated interactions for MFI2 Gene

Drugs & Compounds for MFI2 Gene

(3) Drugs for MFI2 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Deferoxamine Approved, Investigational Pharma 44
Iron Approved Pharma 957
Zinc Approved Pharma 1404

(4) Additional Compounds for MFI2 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
ferric ammonium citrate
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with MFI2: view

Transcripts for MFI2 Gene

Unigene Clusters for MFI2 Gene

Antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MFI2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for MFI2 Gene

GeneLoc Exon Structure for
MFI2
ECgene alternative splicing isoforms for
MFI2

Expression for MFI2 Gene

mRNA expression in normal human tissues for MFI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFI2 Gene

This gene is overexpressed in Liver (50.2) and Fetal gut (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MFI2 Gene



SOURCE GeneReport for Unigene cluster for MFI2 Gene Hs.184727

mRNA Expression by UniProt/SwissProt for MFI2 Gene

P08582-TRFM_HUMAN
Tissue specificity: Found predominantly in human melanomas and in certain fetal tissues; also found in liver, epithelium, umbilical chord, placenta and sweat gland ducts
genes like me logo Genes that share expression patterns with MFI2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MFI2 Gene

Orthologs for MFI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFI2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MFI2 35
  • 89.31 (n)
  • 91 (a)
MFI2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFI2 35
  • 87.31 (n)
  • 87.62 (a)
MFI2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfi2 35
  • 83.22 (n)
  • 84.81 (a)
Mfi2 16
Mfi2 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFI2 35
  • 99.02 (n)
  • 98.91 (a)
MFI2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfi2 35
  • 83.12 (n)
  • 85.51 (a)
oppossum
(Monodelphis domestica)
Mammalia MFI2 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFI2 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFI2 35
  • 65.21 (n)
  • 62.91 (a)
MFI2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFI2 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfi2 35
  • 59.11 (n)
  • 59.16 (a)
zebrafish
(Danio rerio)
Actinopterygii mfi2 35
  • 56.32 (n)
  • 49.71 (a)
mfi2 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tsf2 37
  • 37 (a)
Tsf2 35
  • 49.57 (n)
  • 38.47 (a)
Tsf2 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005003 35
  • 50.41 (n)
  • 40.83 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for MFI2:
  • 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)
  • 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 MFI2 Gene

ENSEMBL:
Gene Tree for MFI2 (if available)
TreeFam:
Gene Tree for MFI2 (if available)

Paralogs for MFI2 Gene

Paralogs for MFI2 Gene

(2) SIMAP similar genes for MFI2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MFI2: view

Variants for MFI2 Gene

Sequence variations from dbSNP and Humsavar for MFI2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs481068 -- 196,993,167(-) GATTG(C/T)GCCAC intron-variant
rs481074 -- 196,993,161(-) GCCAC(C/T)GCACT intron-variant
rs482877 -- 196,998,453(-) GGCCT(C/T)GACGA intron-variant
rs509016 -- 196,992,400(-) ACCGC(A/G)GTGAA intron-variant
rs509732 -- 196,991,284(-) ccccg(G/T)gctgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFI2 Gene

Variant ID Type Subtype PubMed ID
nsv822421 CNV Loss 20364138
nsv878191 CNV Loss 21882294
nsv517987 CNV Loss 19592680
nsv878192 CNV Gain 21882294
esv29143 CNV Loss 19812545
nsv822422 CNV Loss 20364138

Variation tolerance for MFI2 Gene

Residual Variation Intolerance Score: 96.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFI2 Gene

HapMap Linkage Disequilibrium report
MFI2
Human Gene Mutation Database (HGMD)
MFI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFI2 Gene

Disorders for MFI2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFI2 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
melanotic neuroectodermal tumor
  • pigmented neuroectodermal tumour of infancy
melanoma
  • malignant melanoma
menkes disease
  • copper transport disease
- elite association
Search MFI2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFI2

Genetic Association Database (GAD)
MFI2
Human Genome Epidemiology (HuGE) Navigator
MFI2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFI2
genes like me logo Genes that share disorders with MFI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFI2 Gene

Publications for MFI2 Gene

  1. The metal-responsive transcription factor-1 protein is elevated in human tumors. (PMID: 20087061) Shi Y. … Murphy B.J. (Cancer Biol. Ther. 2010) 23 67
  2. A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment. (PMID: 20038716) Bahadorani S. … Hilliker A.J. (Dis Model Mech 2010) 23 67
  3. Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1. (PMID: 18990686) Bellingham S.A. … Hill A.F. (J. Biol. Chem. 2009) 23 67
  4. Inhibition of melanoma brain metastasis by targeting melanotransferrin at the cell surface. (PMID: 19017294) Rolland Y. … BAcliveau R. (Pigment Cell Melanoma Res 2009) 23 67
  5. Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. (PMID: 18158319) Lazarczyk M. … Favre M. (J. Exp. Med. 2008) 23 67

Products for MFI2 Gene

Sources for MFI2 Gene

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