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Aliases for MCF2 Gene

Aliases for MCF2 Gene

  • MCF.2 Cell Line Derived Transforming Sequence 2 3
  • Oncogene MCF2 (Oncogene DBL) 2 3
  • Proto-Oncogene MCF-2 3 4
  • DBL 3 4
  • ARHGEF21 3

External Ids for MCF2 Gene

Previous GeneCards Identifiers for MCF2 Gene

  • GC0XM133248
  • GC0XM135521
  • GC0XM136608
  • GC0XM137369
  • GC0XM138389
  • GC0XM138491
  • GC0XM138663
  • GC0XM127931

Summaries for MCF2 Gene

Entrez Gene Summary for MCF2 Gene

  • 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]

GeneCards Summary for MCF2 Gene

MCF2 (MCF.2 Cell Line Derived Transforming Sequence) is a Protein Coding gene. Diseases associated with MCF2 include aarskog-scott syndrome and amyotrophic lateral sclerosis type 2. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

UniProtKB/Swiss-Prot for MCF2 Gene

  • Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42

Gene Wiki entry for MCF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCF2 Gene

Genomics for MCF2 Gene

Regulatory Elements for MCF2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MCF2 Gene

Chromosome:
X
Start:
139,581,770 bp from pter
End:
139,708,243 bp from pter
Size:
126,474 bases
Orientation:
Minus strand

Genomic View for MCF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCF2 Gene

Proteins for MCF2 Gene

  • Protein details for MCF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10911-MCF2_HUMAN
    Recommended name:
    Proto-oncogene DBL
    Protein Accession:
    P10911
    Secondary Accessions:
    • B7Z3Y5
    • B7Z869
    • B7ZAV1
    • E9PH77
    • F5H091
    • P14919
    • Q5JYJ2
    • Q5JYJ3
    • Q5JYJ4
    • Q8IUF3
    • Q8IUF4
    • Q9UJB3

    Protein attributes for MCF2 Gene

    Size:
    925 amino acids
    Molecular mass:
    107673 Da
    Quaternary structure:
    • Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P). May interact with CCPG1.
    SequenceCaution:
    • Sequence=AAA52172.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MCF2 Gene

neXtProt entry for MCF2 Gene

Proteomics data for MCF2 Gene at MOPED

Post-translational modifications for MCF2 Gene

  • Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCF2 Gene

Domains & Families for MCF2 Gene

Gene Families for MCF2 Gene

Graphical View of Domain Structure for InterPro Entry

P10911

UniProtKB/Swiss-Prot:

MCF2_HUMAN :
  • The CRAL-TRIO domain is involved in interaction with inositol phospholipids
  • Belongs to the MCF2 family.
  • Contains 1 spectrin repeat.
Domain:
  • The CRAL-TRIO domain is involved in interaction with inositol phospholipids
  • The DH domain is essential for transforming activity and directly catalyzes GDP-GTP exchange activity. It may interact with CCPG1
  • Contains 1 CRAL-TRIO domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the MCF2 family.
Similarity:
  • Contains 1 spectrin repeat.
genes like me logo Genes that share domains with MCF2: view

Function for MCF2 Gene

Molecular function for MCF2 Gene

GENATLAS Biochemistry:
transforming sequence,MCF.2 cell line derived,highly expressed in brain,specifically activating CDC42 and not RAC or RHOA
UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42

Gene Ontology (GO) - Molecular Function for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 18470881
genes like me logo Genes that share ontologies with MCF2: view
genes like me logo Genes that share phenotypes with MCF2: view

Animal Models for MCF2 Gene

MGI Knock Outs for MCF2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MCF2 Gene

Localization for MCF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCF2 Gene

Cytoplasm.
Isoform 1: Membrane.
Isoform 3: Membrane. Note=Colocalizes with CDC42 to plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCF2 Gene COMPARTMENTS Subcellular localization image for MCF2 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 4
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 3056717
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MCF2: view

Pathways & Interactions for MCF2 Gene

genes like me logo Genes that share pathways with MCF2: view

Gene Ontology (GO) - Biological Process for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0016358 dendrite development IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with MCF2: view

No data available for SIGNOR curated interactions for MCF2 Gene

Drugs & Compounds for MCF2 Gene

(11) Drugs for MCF2 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Guanine Experimental Pharma 0
estrogen Pharma 0

(4) Additional Compounds for MCF2 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Agar
gdp
gtp
Partial agonist, Agonist
LIPID
genes like me logo Genes that share compounds with MCF2: view

Transcripts for MCF2 Gene

Unigene Clusters for MCF2 Gene

MCF.2 cell line derived transforming sequence:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCF2 Gene

No ASD Table

Relevant External Links for MCF2 Gene

GeneLoc Exon Structure for
MCF2
ECgene alternative splicing isoforms for
MCF2

Expression for MCF2 Gene

mRNA expression in normal human tissues for MCF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCF2 Gene

This gene is overexpressed in Adrenal Gland (x6.9), Testis (x4.8), Brain - Hypothalamus (x4.4), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for MCF2 Gene

This gene is overexpressed in Fetal Brain (53.6) and Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MCF2 Gene



SOURCE GeneReport for Unigene cluster for MCF2 Gene Hs.387262

mRNA Expression by UniProt/SwissProt for MCF2 Gene

P10911-MCF2_HUMAN
Tissue specificity: Isoform 1 is expressed only in brain. Isoform 3 is expressed in heart, kidney, spleen, liver and testis. Isoform 4 is expressed in brain, heart, kidney, testis, placenta, stomach and peripheral blood. The protein is detectable in brain, heart, kidney, intestine, muscle, lung and testis.
genes like me logo Genes that share expression patterns with MCF2: view

Protein tissue co-expression partners for MCF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for MCF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MCF2 35
  • 88.62 (n)
  • 86.55 (a)
MCF2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCF2 35
  • 88.38 (n)
  • 86.95 (a)
MCF2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcf2 35
  • 81.16 (n)
  • 76.05 (a)
Mcf2 16
Mcf2 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCF2 35
  • 96.42 (n)
  • 95.63 (a)
rat
(Rattus norvegicus)
Mammalia Mcf2 35
  • 80.03 (n)
  • 73.82 (a)
oppossum
(Monodelphis domestica)
Mammalia MCF2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCF2 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCF2 35
  • 68.73 (n)
  • 64.86 (a)
MCF2 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCF2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcf2 35
  • 65.01 (n)
  • 58.77 (a)
zebrafish
(Danio rerio)
Actinopterygii mcf2a 35
  • 58.32 (n)
  • 54.05 (a)
mcf2a 36
  • 47 (a)
OneToMany
mcf2b 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30440 37
  • 39 (a)
CG30440 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cgef-1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for MCF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCF2 Gene

ENSEMBL:
Gene Tree for MCF2 (if available)
TreeFam:
Gene Tree for MCF2 (if available)

Paralogs for MCF2 Gene

(6) SIMAP similar genes for MCF2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MCF2: view

Variants for MCF2 Gene

Sequence variations from dbSNP and Humsavar for MCF2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs761143 -- 139,635,664(+) AAAAA(A/T)ATATA intron-variant
rs761144 -- 139,635,764(+) CAAAG(G/T)TTACA intron-variant
rs761145 -- 139,635,821(+) TCACC(C/T)AGGTA intron-variant
rs761146 -- 139,635,833(+) TAAGC(C/T)CAGTA intron-variant
rs764159 -- 139,611,980(+) AAGAA(A/G)aagtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCF2 Gene

Variant ID Type Subtype PubMed ID
nsv528242 CNV Gain 19592680
nsv523170 CNV Gain 19592680
esv268694 CNV Insertion 20981092

Variation tolerance for MCF2 Gene

Residual Variation Intolerance Score: 56.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCF2 Gene

HapMap Linkage Disequilibrium report
MCF2
Human Gene Mutation Database (HGMD)
MCF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCF2 Gene

Disorders for MCF2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MCF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • greig's syndrome
amyotrophic lateral sclerosis type 2
  • amyotrophic lateral sclerosis 2, juvenile
gingival recession
  • gingival recession, unspecified
xeroderma pigmentosum, group b
  • xeroderma pigmentosum complementation group b
parasitic protozoa infectious disease
  • mastigophora infectious disease
- elite association
Search MCF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCF2_HUMAN
  • Note=MCF2 and DBL represent two activated versions of the same proto-oncogene.

Relevant External Links for MCF2

Genetic Association Database (GAD)
MCF2
Tumor Gene Database (TGDB):
MCF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCF2
genes like me logo Genes that share disorders with MCF2: view

No data available for Genatlas for MCF2 Gene

Publications for MCF2 Gene

  1. Localization of the 5' end of the MCF2 oncogene to human chromosome 15q15----q23. (PMID: 1611909) Galland F. … Birnbaum D. (Cytogenet. Cell Genet. 1992) 2 23 67
  2. Activation of leukemia-associated RhoGEF by Galpha13 with significant conformational rearrangements in the interface. (PMID: 19074425) Suzuki N. … Kozasa T. (J. Biol. Chem. 2009) 23 67
  3. Role of nm23 in the regulation of cell shape and migration via Rho family GTPase signals. (PMID: 19381785) Miyamoto M. … Ono Y. (Mol. Cell. Biochem. 2009) 23 67
  4. A conserved hydrophobic surface of the LARG pleckstrin homology domain is critical for RhoA activation in cells. (PMID: 19560536) Aittaleb M. … Tesmer J.J. (Cell. Signal. 2009) 23 67
  5. Role of the C-terminal SH3 domain and N-terminal tyrosine phosphorylation in regulation of Tim and related Dbl-family proteins. (PMID: 18537266) Yohe M.E. … Sondek J. (Biochemistry 2008) 23 67

Products for MCF2 Gene

Sources for MCF2 Gene

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