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

MCF2L2 Gene

protein-coding   GIFtS: 53
GCID: GC03M182895

MCF.2 cell line derived transforming sequence-like 2

 Explore 4 diseases affiliated with
MCF2L2 via our new
 Human Malady Compendium 
Biological research products
for MCF2L2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
MCF.2 Cell Line Derived Transforming Sequence-Like 21 2     MCF2-Transforming Sequence-Like Protein 22 3
ARHGEF221 2     Probable Guanine Nucleotide Exchange Factor MCF2L22
KIAA08611 3     DRG3
Dbs-Related Rho Family Guanine Nucleotide Exchange Factor2 3     

External Ids:    HGNC: 303191   Entrez Gene: 231012   Ensembl: ENSG000000535247   UniProtKB: Q86YR73   

Export aliases for MCF2L2 gene to outside databases

Previous GC identifers: GC03M184378 GC03M180301


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

UniProtKB/Swiss-Prot: MF2L2_HUMAN, Q86YR7
Function: Probably functions as a guanine nucleotide exchange factor (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MCF2L2 gene promoter:
         En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCF2L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MCF2L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCF2L2


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

Entrez Gene cytogenetic band: 3q27.1   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27

MCF2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCF2L2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M182895:  view genomic region     (about GC identifiers)

Start:
182,895,831 bp from pter      End:
183,146,566 bp from pter
Size:
250,736 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MF2L2_HUMAN, Q86YR7 (See protein sequence)
Recommended Name: Probable guanine nucleotide exchange factor MCF2L2  
Size: 1114 amino acids; 126993 Da
Sequence caution: Sequence=AAO19651.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O94942 Q6P2B8 Q6ZVJ5 Q8N318
Alternative splicing: 4 isoforms:  Q86YR7-1   Q86YR7-2   Q86YR7-3   Q86YR7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCF2L2: NX_Q86YR7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86YR7

  • MCF2L2 Protein expression data from MOPED and PaxDb:    About this image 
    MCF2L2 Protein Expression
    REFSEQ proteins: NP_055893.2  
    ENSEMBL proteins: 
     ENSP00000328118   ENSP00000420070   ENSP00000388190   ENSP00000414131   ENSP00000417345  

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    Uscn Proteins for MCF2L2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--

    MCF2L2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MCF2L2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 Q86YR7

    ProtoNet protein and cluster: Q86YR7

    2 Blocks protein families:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: MF2L2_HUMAN, Q86YR7
    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


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MF2L2_HUMAN, Q86YR7
    Function: Probably functions as a guanine nucleotide exchange factor (By similarity)

         Gene Ontology (GO): 2 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:0005543phospholipid binding IEA--
         
    MCF2L2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MCF2L2:
     Cell division defect  Increased G2M DNA content  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MCF2L2 

    miRNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2L2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCF2L2

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

    5 Interacting proteins for MCF2L2 (Q86YR73 ENSP000003281184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB63, ENSP000002120154I2D: score=2 STRING: ENSP00000212015
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    MEGF10Q96KG73, ENSP000002744734I2D: score=2 STRING: ENSP00000274473
    RASL10BENSP000002688644STRING: ENSP00000268864
    RAB19ENSP000002758744STRING: ENSP00000275874
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035023regulation of Rho protein signal transduction IEA--

    MCF2L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MCF2L2

    3 HMDB Compounds for MCF2L2    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--
    Search CenterWatch for drugs/clinical trials and news about MCF2L2 / MF2L2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MCF2L2 gene: 
    NM_015078.2  

    Unigene Cluster for MCF2L2:

    MCF.2 cell line derived transforming sequence-like 2
    Hs.208267  [show with all ESTs]
    Unigene Representative Sequence: BX649003
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328913(uc003fli.1) ENST00000473233 ENST00000478652 ENST00000464626
    ENST00000468976 ENST00000488149(uc011bqr.1) ENST00000447025(uc003flj.1 uc011bqs.1)
    ENST00000414362 ENST00000475664 ENST00000459750(uc003flp.1) ENST00000492331
    ENST00000482017 ENST00000461074

    miRNA
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    Inhib. RNA
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    OriGene siRNA: MCF2L2
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    Clone
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    Additional cDNA sequence: 

    AB020668.1 AK124500.1 AK301698.1 AK310962.1 AY172737.1 BC029074.2 BC064632.1 BX647790.1 
    BX648525.1 BX649003.1 

    15 DOTS entries:

    DT.91907482  DT.97837559  DT.311018  DT.102842877  DT.101978686  DT.86849491  DT.99936716  DT.120868409 
    DT.92028182  DT.120868411  DT.75129021  DT.92022931  DT.95162130  DT.97792580  DT.91855366 

    24/56 AceView cDNA sequences (see all 56):

    CD367113 CA848316 BX642438 NM_015078 AK124500 BU685704 AI074993 BX487485 
    AI871372 CA848607 BU683997 BG184963 BC064632 BX109053 AB020668 BC029074 
    BX649003 AA325939 AI370362 AY172737 BM929566 BX642437 BU685601 BG192266 

    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

    MCF2L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    MCF2L2 Expression
    About this image

    MCF2L2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MCF2L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCF2L2

    SOURCE GeneReport for Unigene cluster: Hs.208267

    UniProtKB/Swiss-Prot: MF2L2_HUMAN, Q86YR7
    Tissue specificity: Significantly expressed in brain and modestly in pancreas, brain and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2L2

    (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 MCF2L2 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MCF2L21 MCF.2 cell line derived transforming sequence-like more 69.19(n)
    66.27(a)
      424959  XM_422768.3  XP_422768.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCF2L26
    --
    48(a)
    1 ↔ 1
    3(15942-151520)
    zebrafish
    (Danio rerio)
    Actinopterygii CT990625.16
    --
    47(a)
    1 ↔ 1
    11(10533584-10722703)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304406
    --
    15(a)
    possible ortholog
    2R(1355819-1383341)
    worm
    (Caenorhabditis elegans)
    Secernentea cgef-16
    CDC-42 Guanine nucleotide Exchange Factor family m...
    17(a)
    1 → many
    X(2785593-2799235)


    ENSEMBL Gene Tree for MCF2L2 (if available)
    TreeFam Gene Tree for MCF2L2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MCF2L2 gene
    KALRN2  ARHGEF252  PLEKHG4B2  TRIO2  MCF2L2  KIAA17552  PLEKHG42  MCF22  
    ARHGEF402  
    5 SIMAP similar genes for MCF2L2 using alignment to 2 protein entries:     MF2L2_HUMAN (see all proteins):
    MCF2L    TRIO    MCF2    tgat    SESTD1

    MCF2L2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MCF2L2
    PGOHUM00000238296


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/4429 NCBI SNPs in MCF2L2 are shown (see all 4429    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1897582191,2
    --182895340(+) GGTGCC/TTGTAA 1 -- ds50010--------
    rs1811762211,2
    --182895362(+) TGGGAA/GGCTGA 1 -- ds50010--------
    rs1387008661,2
    --182895390(+) AACCCA/GGGAGG 1 -- ds50010--------
    rs1128191831,2
    C--182895397(+) GAGGCG/AGAGGT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1508024531,2
    --182895457(+) CAAAAC/TTCCAT 1 -- ds50010--------
    rs1865341071,2
    --182895477(+) AAAAAA/GAAAGA 1 -- ds50010--------
    rs1999578651,2
    --182895550(+) AAAAG-/AAAT  
            
    AACTG
    1 -- ds50010--------
    rs2013512921,2
    --182895556(+) AATAA-/CTGAGAA 1 -- ds50010--------
    rs353169571,2
    C--182895557(+) ATAAC-/TGAGAAT 1 -- ds50011Minor allele frequency- TG:0.00NA 2
    rs730580581,2
    C--182895617(+) AAAAAT/ATCAGA 1 -- ds50011Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for MCF2L2 (182895831 - 183145831 bp, first 250kb of MCF2L2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MCF2L2
         1 CNV: 51025
         3 Indels: 68511 60445 98551
    Human Gene Mutation Database (HGMD): MCF2L2

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MCF2L2 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: MF2L2_HUMAN, Q86YR7
  • Genetic variation in MCF2L2 may be associated with susceptibility to noninsulin-dependent diabetes mellitus
  • (NIDDM) [MIM:125853]; also known as diabetes mellitus type 2

    4 diseases for MCF2L2:    About MalaCards
    type 1 diabetes mellitus    polycystic ovary syndrome    diabetes mellitus    nephropathy

    Human Genome Epidemiology (HuGE) Navigator: MCF2L2 (4 documents)

    Export disorders for MCF2L2 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 MCF2L2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with MCF2L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. (PubMed id 18259684)1, 2 Takeuchi F.... Kato N. (2008)
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    3. Family-based association study of the MCF2L2 gene and polycystic ovary syndrome. (PubMed id 19648752)1, 9 Zheng Q....Chen Z.J. (2009)
    4. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphi sms on the development of nephropathy in type 1 Diabetes Mellitus. (PubMed id 20667095)1 Zhang D....Gu H.F. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Identification and characterization of proteins inter acting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effec ts of sirtuins. (PubMed id 19343720)1 Law I.K....Wang Y. (2009)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23101 HGNC: 30319 AceView: MCF2L2 Ensembl:ENSG00000053524 euGenes: HUgn23101
    ECgene: MCF2L2 H-InvDB: MCF2L2

    (According to HUGE)
    About This Section
    HUGE: KIAA0861

    (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 MCF2L2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCF2L2 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 MCF2L2 gene:
    Search GeneIP for patents involving MCF2L2

    GeneCards and IP:
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