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    MCF2 MCF.2 cell line derived transforming sequence [ Homo sapiens ]

    Gene ID: 4168, updated on 11-May-2012

    Summary

    Official Symbol
    MCF2provided by HGNC
    Official Full Name
    MCF.2 cell line derived transforming sequenceprovided by HGNC
    Primary source
    HGNC:6940
    Locus tag
    RP6-88D7.2
    See related
    Ensembl:ENSG00000101977; HPRD:02406; MIM:311030; Vega:OTTHUMG00000022537
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBL; ARHGEF21
    Summary
    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]

    Genomic context

    Location :
    Xq27
    Sequence :
    Chromosome: X; NC_000023.10 (138663930..138790381, complement)
    See MCF2 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) Neighboring gene coagulation factor IX Neighboring gene brain cytoplasmic RNA 1, pseudogene 1 Neighboring gene ATPase, class VI, type 11C

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P10911 Q14344 GNA13    HPRD  PubMed  
    P10911 P10911 MCF2    HPRD  PubMed  
    P10911 P61586 RHOA    HPRD  PubMed  
    P10911 P84095 RHOG    HPRD  PubMed  
    P10911 Q07912 TNK2    HPRD  PubMed  
    BioGRID:110336 BioGRID:107433 CDC42    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110336 BioGRID:115914 GNA13    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110336 BioGRID:109552 HSP90AA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110336 BioGRID:110336 MCF2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110336 BioGRID:106880 RHOA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110336 BioGRID:115563 STUB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110336 BioGRID:115485 TNK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110336 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of CDC42 activity, organism-specific biosystem
      Regulation of CDC42 activity
    • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RAC1 activity, organism-specific biosystem
      Regulation of RAC1 activity
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
     
    induction of apoptosis by extracellular signals TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fraction TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    proto-oncogene DBL
    Names
    proto-oncogene DBL
    proto-oncogene MCF-2
    Oncogene MCF2 (oncogene DBL)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016439.1 RefSeqGene

      Range
      5001..131452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099855.1NP_001093325.1  proto-oncogene DBL isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AL117234, DC298193
      Consensus CDS
      CCDS48175.1
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000397055, ENST00000414978
      Conserved Domains (4) summary
      cd00160
      Location:556696
      Blast Score: 285
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:285476
      Blast Score: 128
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:752889
      Blast Score: 402
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:4148
      Blast Score: 303
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    2. NM_001171876.1NP_001165347.1  proto-oncogene DBL isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AK316416, AL033403, AL117234, DC298193
      Consensus CDS
      CCDS55517.1
      UniProtKB/TrEMBL
      B7ZAV1
      UniProtKB/TrEMBL
      E9PH77
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000430276, OTTHUMP00000226076, ENST00000519895, OTTHUMT00000377602
      Conserved Domains (4) summary
      cd00160
      Location:572712
      Blast Score: 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:285476
      Blast Score: 130
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:768905
      Blast Score: 402
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:4148
      Blast Score: 302
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    3. NM_001171877.1NP_001165348.1  proto-oncogene DBL isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks several exons compared to variant 3. The resulting isoform (d) has shorter and distinct N- and C-termini and lacks two segments compared to isoform c.
      Source sequence(s)
      AK313900, DA723464, J03639, X12556
      Consensus CDS
      CCDS55514.1
      UniProtKB/TrEMBL
      B2R9S6
      UniProtKB/TrEMBL
      F5H091
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000438155, ENST00000536274
      Conserved Domains (4) summary
      cd00160
      Location:457597
      Blast Score: 280
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:186377
      Blast Score: 123
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:653790
      Blast Score: 397
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:1852
      Blast Score: 91
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    4. NM_001171878.1NP_001165349.1  proto-oncogene DBL isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks several exons compared to variant 3. The resulting isoform (e) has shorter and distinct N- and C-termini and lacks a segment compared to isoform c.
      Source sequence(s)
      AB085901, AK313900, AL033403, DA723464, X12556
      Consensus CDS
      CCDS55515.1
      UniProtKB/TrEMBL
      B2R9S6
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000359605, OTTHUMP00000024157, ENST00000370573, OTTHUMT00000058561
      Conserved Domains (4) summary
      cd00160
      Location:496636
      Blast Score: 281
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:225416
      Blast Score: 125
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:692829
      Blast Score: 399
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:1888
      Blast Score: 178
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    5. NM_001171879.1NP_001165350.1  proto-oncogene DBL isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AB085902, AK313900, AL033403, DA723464, X12556
      Consensus CDS
      CCDS55516.1
      UniProtKB/TrEMBL
      B2R9S6
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000342204, OTTHUMP00000024158, ENST00000338585, OTTHUMT00000058562
      Conserved Domains (4) summary
      cd00160
      Location:512652
      Blast Score: 284
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:225416
      Blast Score: 127
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:708845
      Blast Score: 400
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:1888
      Blast Score: 179
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    6. NM_005369.4NP_005360.3  proto-oncogene DBL isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (b) lacks an internal segment and has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AK313900, AK316416, AL117234, DA723464, J03639
      Consensus CDS
      CCDS14667.1
      UniProtKB/TrEMBL
      B2R9S6
      UniProtKB/TrEMBL
      B7ZAV1
      UniProtKB/Swiss-Prot
      P10911
      Related
      ENSP00000359608, OTTHUMP00000024156, ENST00000370576, OTTHUMT00000058560
      Conserved Domains (4) summary
      cd00160
      Location:496636
      Blast Score: 283
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:225416
      Blast Score: 125
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl00273
      Location:692829
      Blast Score: 400
      PH-like; Pleckstrin homology-like domain
      cl15787
      Location:1888
      Blast Score: 180
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      138663930..138790381, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      127931315..128057565, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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