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] See more...

Aliases for MCF2 Gene

Aliases for MCF2 Gene

  • MCF.2 Cell Line Derived Transforming Sequence 2 3 5
  • DBL 2 3 4
  • Oncogene MCF2 (Oncogene DBL) 2 3
  • Proto-Oncogene MCF-2 3 4
  • Proto-Oncogene DBL 3 4
  • ARHGEF21 2 3
  • MCF2 5

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 Skin Granular Cell Tumor. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is MCF2L.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCF2 Gene

Genomics for MCF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ139642 Promoter 1.1 EPDnew Ensembl 250.2 +65.6 65578 1 ZNF10 MAFF ZNF316 MAFK REST MAFG ZNF362 ZBTB17 ZNF680 USF1 MCF2 lnc-ATP11C-1 piR-56133-251 F9
GH0XJ139738 Enhancer 0.6 Ensembl ENCODE 0.3 -31.0 -31007 1.4 ZNF10 IKZF1 IKZF2 PRDM10 RUNX3 EP300 HSALNG0140404 lnc-MCF2-2 MCF2 ATP11C
GH0XJ139720 Enhancer 0.4 Ensembl ENCODE 0.4 -12.0 -12009 0.6 YY1 BCYRN1P1 piR-45035-191 MCF2 ATP11C
GH0XJ139691 Promoter 0.4 Ensembl 0.4 +16.0 15978 1.8 EGR1 piR-56133-251 ENSG00000238485 MCF2 F9
GH0XJ139766 Enhancer 0.8 Ensembl ENCODE 0.2 -58.6 -58622 1.4 BCL11A IRF4 SPI1 BATF IKZF1 JUNB IKZF2 MTA2 ZBTB33 EED lnc-MCF2-2 piR-32325-218 MCF2 ATP11C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCF2

Top Transcription factor binding sites by QIAGEN in the MCF2 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • E47
  • GATA-1
  • GATA-3
  • Hand1
  • HFH-1

Genomic Locations for MCF2 Gene

Latest Assembly
chrX:139,581,768-139,708,279
(GRCh38/hg38)
Size:
126,512 bases
Orientation:
Minus strand

Previous Assembly
chrX:138,663,929-138,790,326
(GRCh37/hg19 by Entrez Gene)
Size:
126,398 bases
Orientation:
Minus strand

chrX:138,663,929-138,790,386
(GRCh37/hg19 by Ensembl)
Size:
126,458 bases
Orientation:
Minus strand

Genomic View for MCF2 Gene

Genes around MCF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MCF2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
  • Spectrin repeat
  • CCAAT-binding transcription factor subunit A signature

Suggested Antigen Peptide Sequences for MCF2 Gene

GenScript: Design optimal peptide antigens:
  • Proto-oncogene MCF-2 (MCF2_HUMAN)
  • MCF.2 cell line derived transforming sequence (Q5JYJ5_HUMAN)
  • MCF.2 cell line derived transforming sequence (Q5JYJ6_HUMAN)

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.
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.
Family:
  • Belongs to the MCF2 family.
genes like me logo Genes that share domains with MCF2: view

Function for MCF2 Gene

Molecular function for MCF2 Gene

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.
GENATLAS Biochemistry:
transforming sequence,MCF.2 cell line derived,highly expressed in brain,specifically activating CDC42 and not RAC or RHOA

Phenotypes From GWAS Catalog for MCF2 Gene

Gene Ontology (GO) - Molecular Function for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCF2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCF2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 3
nucleus 3
extracellular 2
mitochondrion 2
endosome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 3056717
GO:0016020 membrane TAS,IEA --
genes like me logo Genes that share ontologies with MCF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MCF2 Gene

Pathways & Interactions for MCF2 Gene

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

Pathways by source for MCF2 Gene

2 GeneGo (Thomson Reuters) pathways for MCF2 Gene
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
1 Cell Signaling Technology pathway for MCF2 Gene

SIGNOR curated interactions for MCF2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0016358 dendrite development IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0050771 negative regulation of axonogenesis TAS --
genes like me logo Genes that share ontologies with MCF2: view

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MCF2: view

Transcripts for MCF2 Gene

mRNA/cDNA for MCF2 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCF2

Clone products for research

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

No ASD Table

Relevant External Links for MCF2 Gene

GeneLoc Exon Structure for
MCF2

Expression for MCF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MCF2 Gene



Protein tissue co-expression partners for MCF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCF2

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.

Evidence on tissue expression from TISSUES for MCF2 Gene

  • Nervous system(4.7)
  • Skin(2.3)
  • Adrenal gland(2.3)
  • Intestine(2.2)
  • Blood(2.2)
  • Kidney(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with MCF2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MCF2 Gene

Orthologs for MCF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCF2 29
  • 96.42 (n)
Cow
(Bos Taurus)
Mammalia MCF2 29 30
  • 88.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCF2 29 30
  • 88.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mcf2 29 16 30
  • 81.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcf2 29
  • 80.03 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MCF2 30
  • 60 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCF2 30
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCF2 29 30
  • 68.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCF2 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcf2 29
  • 65.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii mcf2a 29 30
  • 58.32 (n)
OneToMany
mcf2b 30
  • 47 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30440 30 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cgef-1 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 33 (a)
OneToMany
Species where no ortholog for MCF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MCF2: view image
Alliance of Genome Resources:
Additional Orthologs for MCF2

Paralogs for MCF2 Gene

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

  • MCF2_HUMAN
  • H0Y662_HUMAN
  • Q5JYJ5_HUMAN
  • Q5JYJ7_HUMAN
genes like me logo Genes that share paralogs with MCF2: view

Variants for MCF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCF2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs142205898 Benign: not provided 139,596,700(-) C/A
NM_005369.5(MCF2):c.2126G>T (p.Gly709Val)
MISSENSE
rs1446561911 Likely Benign: not provided 139,619,665(-) T/C
NM_005369.5(MCF2):c.729A>G (p.Glu243=)
SYNONYMOUS
rs146379496 Benign: not provided 139,632,389(-) C/T
NM_005369.5(MCF2):c.117G>A (p.Thr39=)
SYNONYMOUS
rs149562038 Likely Benign: not specified; not provided 139,602,462(-) T/C
NM_001171876.2(MCF2):c.2008A>G (p.Asn670Asp)
MISSENSE
rs17002185 Benign: not provided 139,631,516(-) A/G
NM_005369.5(MCF2):c.172-5T>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3304416 CNV mobile element insertion 20981092
esv3356926 CNV insertion 20981092
esv3574797 CNV loss 25503493
nsv523170 CNV gain 19592680
nsv528242 CNV gain 19592680

Variation tolerance for MCF2 Gene

Residual Variation Intolerance Score: 56.5% 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)

Additional Variant Information for MCF2 Gene

Human Gene Mutation Database (HGMD)
MCF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCF2
Leiden Open Variation Database (LOVD)
MCF2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MCF2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MCF2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
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. {ECO:0000305}.

Additional Disease Information for 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. Alternative splicing variants of the human DBL (MCF-2) proto-oncogene. (PMID: 12445822) Komai K … Shiozawa S (Biochemical and biophysical research communications 2002) 3 4 22
  2. Activation of the guanine nucleotide exchange factor Dbl following ACK1-dependent tyrosine phosphorylation. (PMID: 10652228) Kato J … Satoh T (Biochemical and biophysical research communications 2000) 3 4 22
  3. Localization of the 5' end of the MCF2 oncogene to human chromosome 15q15----q23. (PMID: 1611909) Galland F … Birnbaum D (Cytogenetics and cell genetics 1992) 2 3 22
  4. Activation of a mcf.2 oncogene by deletion of amino-terminal coding sequences. (PMID: 2577874) Noguchi T … Birnbaum D (Oncogene 1988) 2 3 4
  5. Regulation of proto-oncogenic dbl by chaperone-controlled, ubiquitin-mediated degradation. (PMID: 17178836) Kamynina E … Manor D (Molecular and cellular biology 2007) 3 22

Products for MCF2 Gene

Sources for MCF2 Gene