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

Gene ID: 4168, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Functions

What's a GeneRIF?

Pathways from PubChem

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 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_001171876.2NP_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, ENST00000370576.9
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 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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