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

    Gene ID: 4168, updated on 13-Feb-2019

    Summary

    Official Symbol
    MCF2provided by HGNC
    Official Full Name
    MCF.2 cell line derived transforming sequenceprovided by HGNC
    Primary source
    HGNC:HGNC:6940
    See related
    Ensembl:ENSG00000101977 MIM:311030
    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]
    Expression
    Biased expression in adrenal (RPKM 10.3), testis (RPKM 7.9) and 2 other tissues See more
    Orthologs

    Genomic context

    See MCF2 in Genome Data Viewer
    Location:
    Xq27.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (139581768..139708279, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (138663930..138790381, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1 Neighboring gene coagulation factor IX Neighboring gene brain cytoplasmic RNA 1, pseudogene 1 Neighboring gene ATPase phospholipid transporting 11C Neighboring gene RNA, U6atac small nuclear 23, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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...
    • 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 ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of axonogenesis TAS
    Traceable Author Statement
    more info
     
    positive regulation of apoptotic process 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
     
    Component Evidence Code Pubs
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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
      70382..131452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001093325.1

      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
      ENSP00000397055.1, ENST00000414978.5
      Conserved Domains (5) summary
      smart00516
      Location:5145
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:556733
      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
      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; ...
      pfam00169
      Location:783868
      PH; PH domain
      cl17171
      Location:740871
      PH-like; Pleckstrin homology-like domain
    2. NM_001171876.1NP_001165347.1  proto-oncogene DBL isoform c

      See identical proteins and their annotated locations for NP_001165347.1

      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/Swiss-Prot
      P10911
      Related
      ENSP00000430276.1, ENST00000519895.5
      Conserved Domains (5) summary
      smart00516
      Location:5145
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:572749
      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
      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; ...
      pfam00169
      Location:799884
      PH; PH domain
      cl17171
      Location:756887
      PH-like; Pleckstrin homology-like domain
    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/Swiss-Prot
      P10911
      UniProtKB/TrEMBL
      B2R9S6
      Related
      ENSP00000438155.1, ENST00000536274.5
      Conserved Domains (5) summary
      cd00160
      Location:457634
      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
      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; ...
      pfam00169
      Location:684769
      PH; PH domain
      pfam13716
      Location:291
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
      cl17171
      Location:641772
      PH-like; Pleckstrin homology-like domain
    4. NM_001171878.1NP_001165349.1  proto-oncogene DBL isoform e

      See identical proteins and their annotated locations for NP_001165349.1

      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/Swiss-Prot
      P10911
      UniProtKB/TrEMBL
      B2R9S6
      Related
      ENSP00000359605.4, ENST00000370573.8
      Conserved Domains (5) summary
      cd00160
      Location:496673
      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
      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; ...
      pfam00169
      Location:723808
      PH; PH domain
      cl15787
      Location:2085
      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 ...
      cl17171
      Location:680811
      PH-like; Pleckstrin homology-like domain
    5. NM_001171879.1NP_001165350.1  proto-oncogene DBL isoform f

      See identical proteins and their annotated locations for NP_001165350.1

      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/Swiss-Prot
      P10911
      UniProtKB/TrEMBL
      B2R9S6
      Related
      ENSP00000342204.6, ENST00000338585.6
      Conserved Domains (5) summary
      cd00160
      Location:512689
      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
      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; ...
      pfam00169
      Location:739824
      PH; PH domain
      cl15787
      Location:2085
      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 ...
      cl17171
      Location:696827
      PH-like; Pleckstrin homology-like domain
    6. NM_005369.5NP_005360.3  proto-oncogene DBL isoform b

      See identical proteins and their annotated locations for NP_005360.3

      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, AL033403, AL117234, DA723464, J03639
      Consensus CDS
      CCDS14667.1
      UniProtKB/Swiss-Prot
      P10911
      UniProtKB/TrEMBL
      B2R9S6
      Related
      ENSP00000359608.4, ENST00000370576.8
      Conserved Domains (5) summary
      cd00160
      Location:496673
      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
      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; ...
      pfam00169
      Location:723808
      PH; PH domain
      cl15787
      Location:2085
      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 ...
      cl17171
      Location:680811
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      139581768..139708279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262413.4XP_005262470.1  proto-oncogene DBL isoform X2

      Related
      ENSP00000427745.2, ENST00000520602.6
      Conserved Domains (5) summary
      smart00516
      Location:48188
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:615792
      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:328519
      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; ...
      pfam00169
      Location:842927
      PH; PH domain
      cl17171
      Location:799930
      PH-like; Pleckstrin homology-like domain
    2. XM_011531339.2XP_011529641.1  proto-oncogene DBL isoform X4

      See identical proteins and their annotated locations for XP_011529641.1

      UniProtKB/Swiss-Prot
      P10911
      Conserved Domains (5) summary
      smart00516
      Location:5145
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:572749
      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
      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; ...
      pfam00169
      Location:799884
      PH; PH domain
      cl17171
      Location:756887
      PH-like; Pleckstrin homology-like domain
    3. XM_017029530.1XP_016885019.1  proto-oncogene DBL isoform X3

    4. XM_017029529.1XP_016885018.1  proto-oncogene DBL isoform X1

      Conserved Domains (5) summary
      smart00516
      Location:48188
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:615792
      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:328519
      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; ...
      pfam00169
      Location:842927
      PH; PH domain
      cl17171
      Location:799930
      PH-like; Pleckstrin homology-like domain
    5. XM_017029531.1XP_016885020.1  proto-oncogene DBL isoform X4

      UniProtKB/Swiss-Prot
      P10911
      Conserved Domains (5) summary
      smart00516
      Location:5145
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:572749
      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
      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; ...
      pfam00169
      Location:799884
      PH; PH domain
      cl17171
      Location:756887
      PH-like; Pleckstrin homology-like domain
    6. XM_017029532.2XP_016885021.1  proto-oncogene DBL isoform X5

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