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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCF2 Gene

protein-coding   GIFtS: 65
GCID: GC0XM138663

MCF.2 Cell Line Derived Transforming Sequence

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MCF.2 Cell Line Derived Transforming Sequence1 2
DBL2 3 5
Oncogene MCF2 (Oncogene DBL)1 2
Proto-Oncogene MCF-22 3
ARHGEF212
Proto-Oncogene DBL2

External Ids:    HGNC: 69401   Entrez Gene: 41682   Ensembl: ENSG000001019777   OMIM: 3110305   UniProtKB: P109113   

Export aliases for MCF2 gene to outside databases

Previous GC identifers: GC0XM133248 GC0XM135521 GC0XM136608 GC0XM137369 GC0XM138389 GC0XM138491 GC0XM127931


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MCF2 Gene:
The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over
some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have
been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF
activity.(provided by RefSeq, Jan 2010)

GeneCards Summary for MCF2 Gene: 
MCF2 (MCF.2 cell line derived transforming sequence) is a protein-coding gene. Diseases associated with MCF2 include aarskog-scott syndrome, and scott syndrome, and among its related super-pathways are NRAGE signals death through JNK and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is KALRN.

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911
Function: Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the
conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits
no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3
exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward
RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42

Gene Wiki entry for MCF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MCF2 gene promoter:
         AhR   AML1a   GATA-3   Arnt   GATA-1   E47   HFH-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MCF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq26.3-q27.1

MCF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCF2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM138663:  view genomic region     (about GC identifiers)

Start:
138,663,929 bp from pter      End:
138,790,386 bp from pter
Size:
126,458 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911 (See protein sequence)
Recommended Name: Proto-oncogene DBL  
Size: 925 amino acids; 107673 Da
Subunit: Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P),
phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P). May interact with CCPG1
Subcellular location: Cytoplasm
Subcellular location: Isoform 1: Membrane
Subcellular location: Isoform 3: Membrane. Note=Colocalizes with CDC42 to plasma membrane
Sequence caution: Sequence=AAA52172.1; Type=Erroneous initiation;
Secondary accessions: B7Z3Y5 B7Z869 B7ZAV1 E9PH77 F5H091 P14919 Q5JYJ2 Q5JYJ3 Q5JYJ4 Q8IUF3
Q8IUF4 Q9UJB3
Alternative splicing: 6 isoforms:  P10911-1   P10911-2   P10911-3   P10911-4   P10911-5   P10911-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCF2: NX_P10911

Explore proteomics data for MCF2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10911

  • MCF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCF2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001093325.1  NP_001165347.1  NP_001165348.1  NP_001165349.1  NP_001165350.1  NP_005360.3  

    ENSEMBL proteins: 
     ENSP00000427745   ENSP00000403271   ENSP00000359608   ENSP00000405848   ENSP00000430276  
     ENSP00000359605   ENSP00000342204   ENSP00000438155   ENSP00000359610   ENSP00000397055  
    Reactome Protein details: P10911
    Human Recombinant Protein Products for MCF2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCF2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS3056717
    GO:0016020membrane IEA--

    MCF2 for ontologies           About GeneDecksing



    MCF2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for MCF2 
    Cloud-Clone Corp. CLIAs for MCF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARHGEF: Rho guanine nucleotide exchange factors

    5/6 InterPro protein domains (see all 6):
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001251 CRAL-TRIO_dom
     IPR011993 PH_like_dom
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry P10911

    ProtoNet protein and cluster: P10911

    4 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB002017 Spectrin repeat
    IPB003957 CCAAT-binding transcription factor subunit A signature


    UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911
    Domain: The CRAL-TRIO domain is involved in interaction with inositol phospholipids
    Domain: The DH domain is essential for transforming activity and directly catalyzes GDP-GTP exchange activity. It
    may interact with CCPG1
    Similarity: Belongs to the MCF2 family
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 spectrin repeat


    MCF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCF2_HUMAN, P10911
    Function: Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the
    conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits
    no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3
    exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward
    RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42

         Genatlas biochemistry entry for MCF2:
    transforming sequence,MCF.2 cell line derived,highly expressed in brain,specifically activating CDC42 and not RAC
    or RHOA

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI18470881
    GO:0005543phospholipid binding IEA--
         
    MCF2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mcf2):
     behavior/neurological  nervous system  reproductive system 

    MCF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mcf2tm1Ehi for MCF2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCF2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MCF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCF2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCF2 

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate MCF2:
    hsa-miR-124 hsa-miR-143 hsa-miR-506 hsa-miR-218 hsa-miR-636 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidMCF2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for MCF2
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MCF2

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): MCF2 (NM_005369)
    Browse Sino Biological Human cDNA Clones
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    Sirion Biotech Customized lentivirus for stable overexpression of MCF2 
                         Customized lentivirus expression plasmids for stable overexpression of MCF2 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MCF2 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    4G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of RAC1 activity0.88
    5Signaling by FGFR
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for MCF2
        G-protein signaling Regulation of CDC42 activity
    G-protein signaling Regulation of RAC1 activity


    1 Cell Signaling Technology (CST) Pathway for MCF2
        Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for MCF2
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of CDC42 activity

    4 BioSystems Pathways for MCF2
        EGFR1 Signaling Pathway
    Regulation of RhoA activity
    Regulation of CDC42 activity
    Regulation of RAC1 activity

    5/10        Reactome Pathways for MCF2 (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    MCF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for MCF2 (P109111, 2, 3 ENSP000003970554) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RDXP352412, 3, ENSP000003428304MINT-17859 MINT-17858 I2D: score=1 STRING: ENSP00000342830
    NME1P155311, 3, ENSP000000130344EBI-1914514,EBI-741141 I2D: score=1 STRING: ENSP00000013034
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    RHOGP840953, ENSP000003394674I2D: score=1 STRING: ENSP00000339467
    STUB1Q9UNE73, ENSP000002195484I2D: score=1 STRING: ENSP00000219548
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0016358dendrite development IEA--
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0035556intracellular signal transduction ----
    GO:0043065positive regulation of apoptotic process TAS--

    MCF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MCF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MCF2

    3 HMDB Compounds for MCF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    10/12 Novoseek inferred chemical compound relationships for MCF2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 81.3 22 9681826 (2), 8570171 (1), 8969170 (1), 10518015 (1) (see all 17)
    gtp 73.6 14 9681826 (2), 8969170 (1), 11007481 (1), 15817389 (1) (see all 12)
    guanine 39.4 1 12496381 (1)
    tyrosine 29.7 9 10652228 (5), 11007481 (2), 12496381 (1)
    arginine 16.6 6 11094164 (1), 15755723 (1), 19074425 (1), 12024019 (1) (see all 5)
    agar 6.74 1 10021386 (1)
    lipid 0 1 11577097 (1)
    calcium 0 2 9141492 (2)
    threonine 0 1 11337492 (1)
    estrogen 0 1 9627117 (1)

    Search CenterWatch for drugs/clinical trials and news about MCF2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MCF2 gene (6 alternative transcripts): 
    NM_001099855.1  NM_001171876.1  NM_001171877.1  NM_001171878.1  NM_001171879.1  NM_005369.4  

    Unigene Cluster for MCF2:

    MCF.2 cell line derived transforming sequence
    Hs.387262  [show with all ESTs]
    Unigene Representative Sequence: NM_001171876
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520602(uc011mwn.1) ENST00000437564 ENST00000370576(uc004fav.3 uc004fau.3 uc010nsh.2 uc011mwl.2)
    ENST00000446225 ENST00000519895 ENST00000370573 ENST00000338585 ENST00000483690
    ENST00000536274(uc011mwm.2) ENST00000370578 ENST00000414978(uc011mwo.1 uc004faw.2)

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    SwitchGear 3'UTR luciferase reporter plasmidMCF2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 6): MCF2 (NM_005369)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCF2
    Sirion Biotech Customized lentivirus for stable overexpression of MCF2 
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    Additional mRNA sequence: 

    AB085901.1 AB085902.1 AK296488.1 AK296529.1 AK302957.1 AK313900.1 AK316416.1 AL117234.1 
    BC151247.1 J03639.1 X12556.1 X13230.1 

    5 DOTS entries:

    DT.95366728  DT.92070670  DT.92070671  DT.95366727  DT.121301235 

    24 AceView cDNA sequences:

    BX093553 AB085902 BQ632565 AL040486 AB085901 BQ632854 BQ189571 AL117234 
    BF062094 AL046410 NM_005369 AW341436 AL120131 BG205068 X12556 X13230 
    N35192 AV752834 AI004109 AA610032 J03639 N23406 AA758713 BU568480 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MCF2 expression in normal human tissues (normalized intensities)      MCF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTAATTCT
    MCF2 Expression
    About this image


    MCF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Long Bone
     
     Adrenal Gland (Endocrine System)
             adrenal cortex   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Testis (Reproductive System)

    See MCF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCF2

    SOURCE GeneReport for Unigene cluster: Hs.387262

    UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911
    Tissue specificity: Isoform 1 is expressed only in brain. Isoform 3 is expressed in heart, kidney, spleen, liver
    and testis. Isoform 4 is expressed in brain, heart, kidney, testis, placenta, stomach and peripheral blood. The
    protein is detectable in brain, heart, kidney, intestine, muscle, lung and testis

        SABiosciences Custom PCR Arrays for MCF2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCF2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MCF2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcf21 , 5 mcf.2 transforming sequence1, 5 80.85(n)1
    75.69(a)1
      X (33.50 cM)5
    1099041  NM_133197.31  NP_573460.21 
     600559565 
    chicken
    (Gallus gallus)
    Aves MCF21 MCF.2 cell line derived transforming sequence 69.23(n)
    65.78(a)
      422253  XM_420239.3  XP_420239.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCF26
    MCF.2 cell line derived transforming sequence
    56(a)
    1 ↔ 1
    GL343694.1(1608-69526)
    zebrafish
    (Danio rerio)
    Actinopterygii mcf2a1 MCF.2 cell line derived transforming sequence a 58.92(n)
    54.85(a)
      557201  XM_680215.5  XP_685307.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304403 guanyl-nucleotide exchange factor 39(a)   41F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea cgef-16
    Protein CGEF-1, isoform c
    21(a)
    1 → many
    X(2772042-2799243)


    ENSEMBL Gene Tree for MCF2 (if available)
    TreeFam Gene Tree for MCF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MCF2 gene
    KALRN2  ARHGEF252  MCF2L22  PLEKHG4B2  TRIO2  MCF2L2  KIAA17552  PLEKHG42  
    ARHGEF402  
    6 SIMAP similar genes for MCF2 using alignment to 4 protein entries:     MCF2_HUMAN (see all proteins):
    MCF2L    tgat    MCF2L2    KALRN    PREX2    TRIO

    MCF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1882 SNPs in MCF2 are shown (see all 1882)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509650691,2
    --138620755(+) AGCTAG/TCTATG 6 -- ds50010--------
    rs1839143081,2
    --138620821(+) GCATTA/CCCATG 6 -- ds50010--------
    rs66358861,2
    C,F,A,H--138620910(+) TTTGCT/CTGGAG 6 -- ds500110Minor allele frequency- C:0.01NS EA NA 1190
    rs1867666831,2
    --138621167(+) GAAAAC/TAGCAG 6 -- ut310--------
    rs1916746981,2
    --138621223(+) AAAAAA/TGTGTG 6 -- ut310--------
    rs1446403481,2
    C--138621298(+) ACAGAC/TAGTAG 6 -- ut310--------
    rs736340501,2
    C--138621793(+) CATTTC/GACATA 8 S * ut31 stg11Minor allele frequency- G:0.00WA 2
    rs1481147921,2
    C--138621813(+) TCAATA/GTAGGA 12 H Y mis1 syn11Minor allele frequency- G:0.00NA 4544
    rs1418711841,2
    F--138621814(+) CAATAT/CAGGAG 12 /L /Y /C syn1 mis11Minor allele frequency- C:0.00NA 4544
    rs1506387291,2
    C,F--138621839(+) CAGGTC/TTCTAC 12 K R N D mis11Minor allele frequency- T:0.00NA 4544

    HapMap Linkage Disequilibrium report for MCF2 (138663929 - 138790386 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MCF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv268694CNV Insertion20981092
    nsv523170CNV Gain19592680
    nsv528242CNV Gain19592680


    Human Gene Mutation Database (HGMD): MCF2

    Locus Specific Mutation Databases (LSDB): MCF2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MCF2
    DNA2.0 Custom Variant and Variant Library Synthesis for MCF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 311030    OMIM disorders: --

    UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911
  • Note=MCF2 and DBL represent two activated versions of the same proto-oncogene

  • 10 diseases for MCF2:    About MalaCards
    aarskog-scott syndrome    scott syndrome    germ cell tumors    autism spectrum disorder
    b-cell lymphomas    lateral sclerosis    schizophrenia    sarcoma
    leukemia    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for MCF2:
    Aarskog-Scott syndrome     Malaria

    MCF2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for MCF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 11.5 2 15163014 (1), 15306850 (1)
    dysplasia 6.74 3 8969170 (1), 8994827 (1), 9671479 (1)
    leukemia 2.92 2 15276214 (1), 15163014 (1)
    tumors 0 1 2098495 (1)
    lymphoma 0 1 15163014 (1)

    Genetic Association Database (GAD): MCF2
    Tumor Gene Database (TGDB): MCF2

    Export disorders for MCF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MCF2 gene, integrated from 9 sources (see all 194):
    (articles sorted by number of sources associating them with MCF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activation of a mcf.2 oncogene by deletion of amino-terminal coding sequences. (PubMed id 2577874)1, 2, 3 Noguchi T.... Birnbaum D. (1988)
    2. Activation of the guanine nucleotide exchange factor Dbl following ACK1-dependent tyrosine phosphorylation. (PubMed id 10652228)1, 2, 9 Kato J....Satoh T. (2000)
    3. Alternative splicing variants of the human DBL (MCF-2) proto- oncogene. (PubMed id 12445822)1, 2, 9 Komai K.... Shiozawa S. (2002)
    4. Localization of the 5' end of the MCF2 oncogene to hu man chromosome 15q15----q23. (PubMed id 1611909)1, 3, 9 Galland F....Birnbaum D. (1992)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. Cellular transformation and guanine nucleotide exchange activity are catalyzed by a common domain on the dbl oncogene product. (PubMed id 8276860)1, 2 Hart M.J.... Zheng Y. (1994)
    7. A region of proto-dbl essential for its transforming activity shows sequence similarity to a yeast cell cycle gene, CDC24, and the human breakpoint cluster gene, bcr. (PubMed id 2065022)1, 2 Ron D.... Eva A. (1991)
    8. The predicted DBL oncogene product defines a distinct class of transforming proteins. (PubMed id 3281159)1, 2 Eva A.... Aaronson S.A. (1988)
    9. Molecular cloning and characterization of the human dbl proto- oncogene: evidence that its overexpression is sufficient to transform NIH/3T3 cells. (PubMed id 3056717)1, 2 Ron D.... Eva A. (1988)
    10. Characterization of novel splicing variants of the mouse MCF-2 (DBL) proto-oncogene. (PubMed id 13679059)1, 9 Komai K....Shiozawa S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4168 HGNC: 6940 AceView: MCF2 Ensembl:ENSG00000101977 euGenes: HUgn4168
    ECgene: MCF2 H-InvDB: MCF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MCF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCF2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MCF2 gene:
    Search GeneIP for patents involving MCF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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