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

MCF2L Gene

protein-coding   GIFtS: 63
GCID: GC13P113548

MCF.2 Cell Line Derived Transforming Sequence-Like

  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 Sequence-Like1 2     Guanine Nucleotide Exchange Factor DBS2
DBL'S Big Sister2 3     MCF2 Transforming Sequence-Like Protein2
ARHGEF142     KIAA03623
DBS2     MCF2-Transforming Sequence-Like Protein3
OST2     

External Ids:    HGNC: 145761   Entrez Gene: 232632   Ensembl: ENSG000001262177   OMIM: 6094995   UniProtKB: O150683   

Export aliases for MCF2L gene to outside databases

Previous GC identifers: GC13P112232 GC13U900016 GC13P112709 GC13P111570 GC13P112670 GC13P094063


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

GeneCards Summary for MCF2L Gene: 
MCF2L (MCF.2 cell line derived transforming sequence-like) is a protein-coding gene. Diseases associated with MCF2L include hypoparathyroidism, and spasticity, and among its related super-pathways are NRAGE signals death through JNK and Ras Pathway. GO annotations related to this gene include 1-phosphatidylinositol binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is KALRN.

UniProtKB/Swiss-Prot: MCF2L_HUMAN, O15068
Function: Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and
CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form
of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the
brain. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5
activates CDC42

Gene Wiki entry for MCF2L 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_000013.10  NT_027140.6  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MCF2L gene promoter:
         Bach1   GATA-3   FOXD1   HNF-1A   GATA-1   GATA-2   CREB   c-Rel   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MCF2L promoter sequence
   Search SABiosciences Chromatin IP Primers for MCF2L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCF2L


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

MCF2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCF2L gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P113548:  view genomic region     (about GC identifiers)

Start:
113,548,692 bp from pter      End:
113,754,053 bp from pter
Size:
205,362 bases      Orientation:
plus 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: MCF2L_HUMAN, O15068 (See protein sequence)
Recommended Name: Guanine nucleotide exchange factor DBS  
Size: 1137 amino acids; 128109 Da
Subunit: Interacts with CCPG1, which results in specific inhibition of its exchange activity toward RHOA (By
similarity). Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P),
phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P)
Subcellular location: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By
similarity)
Sequence caution: Sequence=BAA20817.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAM24069.3; Type=Erroneous gene model prediction; Sequence=CAM24070.1; Type=Erroneous gene model
prediction;
Secondary accessions: A2A2X1 A2A2X2 A2A3G6 A2A3G8 B4DHD6 B4DIL6 E9PDN8 Q5JU56 Q5VXT1 Q6ZWD4
Q765G8 Q765G9 Q8N679
Alternative splicing: 9 isoforms:  O15068-1   O15068-2   O15068-3   O15068-4   O15068-5   O15068-6   O15068-9   O15068-8   
O15068-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCF2L: NX_O15068

Explore proteomics data for MCF2L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15068

  • MCF2L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCF2L Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001106203.2  NP_079255.4  

    ENSEMBL proteins: 
     ENSP00000364758   ENSP00000380230   ENSP00000398383   ENSP00000380225   ENSP00000440374  
     ENSP00000397285   ENSP00000395707   ENSP00000386551   ENSP00000364747   ENSP00000380219  
     ENSP00000471913   ENSP00000473071   ENSP00000380216   ENSP00000405996   ENSP00000380212  
     ENSP00000407392   ENSP00000261963   ENSP00000392953   ENSP00000411315   ENSP00000404422  
     ENSP00000395978   ENSP00000401422   ENSP00000364754   ENSP00000364751   ENSP00000407722  
     ENSP00000405639  
    Reactome Protein details: O15068
    Human Recombinant Protein Products for MCF2L: 
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    OriGene Protein Over-expression Lysate for MCF2L
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    Novus Biologicals MCF2L Protein
    Novus Biologicals MCF2L Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCF2L 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0030027lamellipodium IEA--

    MCF2L for ontologies           About GeneDecksing



    MCF2L Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    5/9 InterPro protein domains (see all 9):
     IPR002017 Spectrin_repeat
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001251 CRAL-TRIO_dom
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry O15068

    ProtoNet protein and cluster: O15068

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: MCF2L_HUMAN, O15068
    Domain: The CRAL-TRIO domain is involved in interaction with inositol phospholipids
    Domain: The DH domain is involved in interaction with CCPG1 (By similarity)
    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 SH3 domain
    Similarity: Contains 1 spectrin repeat


    MCF2L 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: MCF2L_HUMAN, O15068
    Function: Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and
    CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form
    of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the
    brain. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5
    activates CDC42

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding ----
    GO:00055451-phosphatidylinositol binding IEA--
         
    MCF2L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MCF2L:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mcf2l):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  immune system 

    MCF2L for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCF2L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MCF2L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCF2L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCF2L 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMCF2L 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2L


    (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 MCF2L About   (see all 24)                                                                                              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
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    GPCR Pathway0.62
    Breast Cancer Regulation by Stathmin10.58
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    Rap1 Pathway0.57
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for MCF2L
        G-protein signaling RAC1 in cellular process
    G-protein signaling Regulation of CDC42 activity
    G-protein signaling Cross-talk between Ras-family GTPases
    G-protein signaling RhoA regulation pathway

    5/20 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MCF2L (see all 20)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Interferon Pathway
    G-AlphaI Signaling

    4 GeneGo (Thomson Reuters) Pathways for MCF2L
        G-protein signaling Cross-talk between Ras-family GTPases
    G-protein signaling RAC1 in cellular process
    G-protein signaling Regulation of CDC42 activity
    G-protein signaling RhoA regulation pathway

    3 BioSystems Pathways for MCF2L
        Regulation of RhoA activity
    Regulation of CDC42 activity
    Neurotrophic factor-mediated Trk receptor signaling

    5/10        Reactome Pathways for MCF2L (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



    MCF2L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCF2L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/168 Interacting proteins for MCF2L (O150682, 3 ENSP000003647544) via UniProtKB, MINT, STRING, and/or I2D (see all 168)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YAE1D1Q9NRH12, 3, ENSP000002232734MINT-8250209 I2D: score=2 STRING: ENSP00000223273
    AIMP2Q131552, 3MINT-8258984 I2D: score=2 
    RABAC1Q9UI142, 3, ENSP000002220084MINT-8267775 I2D: score=2 STRING: ENSP00000222008
    RHOAP615863, ENSP000004001754I2D: score=3 STRING: ENSP00000400175
    RHOGP840953, ENSP000003394674I2D: score=1 STRING: ENSP00000339467
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007266Rho protein signal transduction IEA--
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0035556intracellular signal transduction ----
    GO:0043065positive regulation of apoptotic process TAS--

    MCF2L 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

    MCF2L for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MCF2L

    3 HMDB Compounds for MCF2L    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--

    2 Novoseek inferred chemical compound relationships for MCF2L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 48.2 5 12637530 (2), 15274927 (1), 11577097 (1)
    guanine 37.3 1 9444953 (1)

    Search CenterWatch for drugs/clinical trials and news about MCF2L

    (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 MCF2L gene (2 alternative transcripts): 
    NM_001112732.2  NM_024979.4  

    Unigene Cluster for MCF2L:

    MCF.2 cell line derived transforming sequence-like
    Hs.170422  [show with all ESTs]
    Unigene Representative Sequence: NM_024979
    18/36 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 36):
    ENST00000375608 ENST00000397036 ENST00000442625(uc001vso.3) ENST00000397030(uc001vsq.3 uc001vsu.3 uc010tjr.2 uc001vsr.3 uc010tjs.2)
    ENST00000535094 ENST00000421756 ENST00000433807 ENST00000409954 ENST00000375597(uc001vss.4 uc001vst.1)
    ENST00000486210 ENST00000397024 ENST00000486806 ENST00000473345 ENST00000480321
    ENST00000469558 ENST00000397021 ENST00000494043 ENST00000423251
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    Additional mRNA sequence: 

    AB116074.1 AB116075.1 AF086413.1 AK094768.1 AK295047.1 AK295670.1 AK307867.1 AK315969.1 
    BC011853.2 BC020208.1 BC107066.1 BC107067.1 

    20 DOTS entries:

    DT.115772  DT.92033375  DT.99957854  DT.95245817  DT.95295746  DT.75197239  DT.40110297  DT.120791719 
    DT.120791725  DT.120791768  DT.91895987  DT.95285986  DT.120791696  DT.120791740  DT.75195528  DT.92015548 
    DT.97818395  DT.120791686  DT.87006741  DT.91746518 

    24/137 AceView cDNA sequences (see all 137):

    CA432698 AB116074 BM669475 BU180155 BF944982 BU736498 CD671904 BM794518 
    BM697869 BF589605 AB116075 BF870256 BC011853 BC020208 NM_024979 BM699259 
    AA365066 AA339653 AW080046 BU681158 BQ684167 BF870252 CB154960 BE327507 

    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

    MCF2L expression in normal human tissues (normalized intensities)      MCF2L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCATCCAC
    MCF2L Expression
    About this image


    MCF2L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Cerebellum

    See MCF2L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCF2L

    SOURCE GeneReport for Unigene cluster: Hs.170422
        SABiosciences Custom PCR Arrays for MCF2L
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCF2L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2L

    (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 MCF2L gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcf2l1 , 5 mcf.2 transforming sequence-like1, 5 84.7(n)1
    88.59(a)1
      8 (5.73 cM)5
    172071  NM_178076.31  NP_835177.21 
     128738065 
    chicken
    (Gallus gallus)
    Aves MCF2L1 MCF.2 cell line derived transforming sequence-like 70.6(n)
    75.77(a)
      418748  NM_001252063.1  NP_001238992.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCF2L6
    MCF.2 cell line derived transforming sequence-like...
    71(a)
    1 ↔ 1
    3(105829694-105912779)
    zebrafish
    (Danio rerio)
    Actinopterygii mcf2l1 mcf.2 cell line derived transforming sequence-like 66.7(n)
    66.45(a)
      100148439  XM_001922148.3  XP_001922183.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304403 guanyl-nucleotide exchange factor 40(a)   41F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea cgef-16
    Protein CGEF-1, isoform c
    25(a)
    1 → many
    X(2772042-2799243)


    ENSEMBL Gene Tree for MCF2L (if available)
    TreeFam Gene Tree for MCF2L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MCF2L gene
    KALRN2  ARHGEF252  MCF2L22  PLEKHG4B2  TRIO2  KIAA17552  PLEKHG42  ARHGEF402  
    MCF22  
    7 SIMAP similar genes for MCF2L using alignment to 21 protein entries:     MCF2L_HUMAN (see all proteins):
    MCF2L2    MCF2    KALRN    tgat    TRIO    SESTD1
    PREX2

    MCF2L 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

    10/3980 SNPs in MCF2L are shown (see all 3980)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401188591,2
    --113624955(+) TGGAGA/GAGAAA 1 -- int10--------
    rs1833146881,2
    --113624987(+) TCTGCC/GTGCCG 1 -- int10--------
    rs758769791,2
    C,F--113625016(+) GAGTGG/AGAACC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1887603931,2
    --113625116(+) AAAGGC/TTATCT 1 -- int10--------
    rs1458222721,2
    --113625144(+) CACTGC/TCTGCT 1 -- int10--------
    rs1924641121,2
    C--113625170(+) GAGCCA/GGGCGC 1 -- int10--------
    rs1850731111,2
    --113625178(+) CGCTCA/GGTGTG 1 -- int10--------
    rs1484223141,2
    --113625309(+) AGCACC/TCTGTA 1 -- int10--------
    rs1867839511,2
    --113625316(+) TGTAGC/TGTTTA 1 -- int10--------
    rs1163974281,2
    F--113625349(+) CATACT/ACCACT 1 -- int11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for MCF2L (113548692 - 113754053 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/65 variations for MCF2L (see all 65):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671771CNV Deletion23128226
    esv2748233CNV Deletion23290073
    esv2748242CNV Deletion23290073
    esv2748221CNV Deletion23290073
    esv2748222CNV Deletion23290073
    esv2748220CNV Deletion23290073
    esv1071073CNV Deletion17803354
    esv2748235CNV Deletion23290073
    esv2748226CNV Deletion23290073
    esv2064600CNV Deletion18987734

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609499    OMIM disorders: --

    7 diseases for MCF2L:    About MalaCards
    hypoparathyroidism    spasticity    osteoarthritis    arthritis
    adenocarcinoma    pancreatitis    breast cancer


    MCF2L for disorders           About GeneDecksing

    Genetic Association Database (GAD): MCF2L
    Human Genome Epidemiology (HuGE) Navigator: MCF2L (3 documents)

    Export disorders for MCF2L 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 MCF2L gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with MCF2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    2. Role of the Sec14-like domain of Dbl family exchange factors in the regulation of Rho family GTPases in different subcellular sites. (PubMed id 15157669)1, 2, 9 Ueda S.... Satoh T. (2004)
    3. A variant in MCF2L is associated with osteoarthritis. (PubMed id 21871595)1, 4 Day-Williams A.G....Zeggini E. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (2010)
    6. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)1, 4 Yang Q....O'Donnell C.J. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A crystallographic view of interactions between Dbs and Cdc42: PH domain-assisted guanine nucleotide exchange. (PubMed id 11889037)1, 9 Rossman K.L....Sondek J. (2002)
    9. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. (PubMed id 23381943)1 Williams F.M.... . (2013)
    10. Genetic contribution to radiographic severity in osteo arthritis of the knee. (PubMed id 22615457)1 Valdes A.M....Doherty M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 23263 HGNC: 14576 AceView: MCF2L Ensembl:ENSG00000126217 euGenes: HUgn23263
    ECgene: MCF2L H-InvDB: MCF2L

    (According to HUGE)
    About This Section
    HUGE: KIAA0362

    (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 MCF2L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCF2L 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 MCF2L gene:
    Search GeneIP for patents involving MCF2L

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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