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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MCF2 Gene

protein-coding GIFtS: 63
GCID: GC0XM138663

MCF.2 cell line derived transforming sequence

Explore 13 diseases affiliated with
MCF2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MCF.2 Cell Line Derived Transforming Sequence¹ ²
DBL¹ ² ³ ⁵
ARHGEF21¹ ²
Proto-Oncogene MCF-2² ³
Oncogene MCF2 (Oncogene DBL)²
Proto-Oncogene DBL²

External Ids:	HGNC: 6940¹	Entrez Gene: 4168²	Ensembl: ENSG00000101977⁷	OMIM: 311030⁵	UniProtKB: P10911³

Export aliases for MCF2 gene to outside databases

Previous GC identifers: GC0XM133248 GC0XM135521 GC0XM136608 GC0XM137369 GC0XM138389 GC0XM138491 GC0XM127931

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MCF2:

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)

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911

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 Wiki entry for MCF2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MCF2 gene promoter:
AhR AML1a GATA-3 Arnt GATA-1 E47 HFH-1 Hand1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MCF2 promoter sequence

Search SABiosciences Chromatin IP Primers for MCF2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCF2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27 Ensembl cytogenetic band: Xq27.1 HGNC cytogenetic band: Xq26.3-q27.1

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

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM138663: view genomic region (about GC identifiers)

Start:	138,663,929 bp from pter	End:	138,790,386 bp from pter
Size:	126,458 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911 (See protein sequence)

Recommended Name: Proto-oncogene DBL

Size: 925 amino acids; 107673 Da

Subunit: 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

Subcellular location: Cytoplasm

Subcellular location: Isoform 1: Membrane

Subcellular location: Isoform 3: Membrane. Note=Colocalizes with CDC42 to plasma membrane

Sequence caution: Sequence=AAA52172.1; Type=Erroneous initiation;

Secondary accessions: B7Z3Y5 B7Z869 B7ZAV1 E9PH77 F5H091 P14919 Q5JYJ2 Q5JYJ3 Q5JYJ4 Q8IUF3 Q8IUF4

Q9UJB3

Alternative splicing: 6 isoforms: P10911-1 P10911-2 P10911-3 P10911-4 P10911-5 P10911-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCF2: NX_P10911

Post-translational modifications:

Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10911

MCF2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001093325.1 NP_001165347.1 NP_001165348.1 NP_001165349.1 NP_001165350.1 NP_005360.3

ENSEMBL proteins:

ENSP00000427745 ENSP00000403271 ENSP00000359608 ENSP00000405848 ENSP00000430276

ENSP00000359605 ENSP00000342204 ENSP00000438155 ENSP00000359610 ENSP00000397055

Reactome Protein details: P10911
Human Recombinant Protein Products for MCF2:

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	Uscn Proteins for MCF2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	3056717
GO:0016020	membrane	IEA	--

MCF2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MCF2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MCF2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR001251 CRAL-TRIO_dom

IPR011993 PH_like_dom

IPR018159 Spectrin/alpha-actinin

Graphical View of Domain Structure for InterPro Entry P10911

ProtoNet protein and cluster: P10911

4 Blocks protein families:

IPB000219 DH domain

IPB001849 Pleckstrin-like

IPB002017 Spectrin repeat

IPB003957 CCAAT-binding transcription factor subunit A signature

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911

Domain: The CRAL-TRIO domain is involved in interaction with inositol phospholipids

Domain: The DH domain is essential for transforming activity and directly catalyzes GDP-GTP exchange activity. It may

interact with CCPG1

Similarity: Belongs to the MCF2 family

Similarity: Contains 1 CRAL-TRIO domain

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 spectrin repeat

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MCF2_HUMAN, P10911

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 entry for MCF2:

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

RHOA

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005515	protein binding	IPI	18470881
GO:0005543	phospholipid binding	IEA	--

MCF2 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mcf2):

behavior/neurological

nervous system

reproductive system

MCF2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Mcf2^tm1Ehi for MCF2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MCF2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MCF2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MCF2
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate MCF2:
		hsa-miR-124 hsa-miR-143 hsa-miR-506 hsa-miR-218 hsa-miR-636 hsa-miR-570
		SwitchGear 3'UTR luciferase reporter plasmid: MCF2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell death signalling via NRAGE, NRIF and NADE

Cell death signalling via NRAGE, NRIF and NADE	1.00	G alpha (12/13) signalling events	0.39
NRAGE signals death through JNK	0.74	Rho GTPase cycle	0.25
p75 NTR receptor-mediated signalling	0.73	Signaling by Rho GTPases	0.25

G-protein signaling Regulation of RAC1 activity

	G-protein signaling Regulation of RAC1 activity	1.00			G-protein signaling Regulation of CDC42 activity	0.25
	G-protein signaling_Regulation of RAC1 activity	0.88			G-protein signaling_Regulation of CDC42 activity	0.25

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for MCF2

	G-protein signaling Regulation of CDC42 activity
	G-protein signaling Regulation of RAC1 activity

1 Cell Signaling Technology (CST) Pathway for MCF2

Cytoskeletal Signaling

2 GeneGo (Thomson Reuters) Pathways for MCF2

	G-protein signaling Regulation of RAC1 activity
	G-protein signaling Regulation of CDC42 activity

4 BioSystems Pathways for MCF2

	EGFR1 Signaling Pathway
	Regulation of CDC42 activity
	Regulation of RhoA activity
	Regulation of RAC1 activity

5/10 Reactome Pathways for MCF2 (see all 10)

	GPCR downstream signaling
	Signaling by Rho GTPases
	G alpha (12/13) signalling events
	Cell death signalling via NRAGE, NRIF and NADE
	Signaling by GPCR

MCF2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MCF2

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for MCF2 (P10911^{1, 2, 3} ENSP00000397055⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RDX	P35241²^,³, ENSP00000342830⁴	MINT-17859 MINT-17858 I2D: score=1 STRING: ENSP00000342830
NME1	P15531¹^,³, ENSP00000013034⁴	EBI-1914514,EBI-741141 I2D: score=1 STRING: ENSP00000013034
RHOA	P61586³, ENSP00000400175⁴	I2D: score=2 STRING: ENSP00000400175
RHOG	P84095³, ENSP00000339467⁴	I2D: score=1 STRING: ENSP00000339467
STUB1	Q9UNE7³, ENSP00000219548⁴	I2D: score=1 STRING: ENSP00000219548

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0016358	dendrite development	--	--
GO:0035023	regulation of Rho protein signal transduction	IEA	--
GO:0035556	intracellular signal transduction	--	--

MCF2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MCF2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MCF2

3 HMDB Compounds for MCF2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

10/12 Novoseek chemical compound relationships for MCF2 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gdp	81.3	22	9681826 (2), 8570171 (1), 8969170 (1), 10518015 (1) (see all 17)
gtp	73.6	14	9681826 (2), 8969170 (1), 11007481 (1), 15817389 (1) (see all 12)
guanine	39.4	1	12496381 (1)
tyrosine	29.7	9	10652228 (5), 11007481 (2), 12496381 (1)
arginine	16.6	6	11094164 (1), 15755723 (1), 19074425 (1), 12024019 (1) (see all 5)
agar	6.74	1	10021386 (1)
lipid	0	1	11577097 (1)
calcium	0	2	9141492 (2)
threonine	0	1	11337492 (1)
estrogen	0	1	9627117 (1)

Search CenterWatch for drugs/clinical trials and news about MCF2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MCF2 gene (6 alternative transcripts):

NM_001099855.1 NM_001171876.1 NM_001171877.1 NM_001171878.1 NM_001171879.1 NM_005369.4

Unigene Cluster for MCF2:

MCF.2 cell line derived transforming sequence

Hs.387262 [show with all ESTs]

Unigene Representative Sequence: NM_001171876

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000520602(uc011mwn.1) ENST00000437564 ENST00000370576(uc004fav.3 uc004fau.3 uc010nsh.2 uc011mwl.2)

ENST00000446225 ENST00000519895 ENST00000370573 ENST00000338585 ENST00000483690

ENST00000536274(uc011mwm.2) ENST00000370578 ENST00000414978(uc011mwo.1 uc004faw.2)

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		SwitchGear 3'UTR luciferase reporter plasmid: MCF2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCF2

Additional cDNA sequence:

AB085901.1 AB085902.1 AK296488.1 AK296529.1 AK302957.1 AK313900.1 AK316416.1 AL117234.1

BC151247.1 J03639.1 X12556.1 X13230.1

5 DOTS entries:

DT.95366728 DT.92070670 DT.92070671 DT.95366727 DT.121301235

24 AceView cDNA sequences:

AB085902 BQ189571 BQ632854 BQ632565 BX093553 AB085901 AL117234 AL040486

AL120131 AW341436 NM_005369 AL046410 BF062094 X12556 BG205068 X13230

AV752834 N35192 AI004109 AA610032 N23406 J03639 AA758713 BU568480

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MCF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTAATTCT

About this image

MCF2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Stylopod Long Bone

Bone

Zeugopod Long Bone

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See MCF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCF2

SOURCE GeneReport for Unigene cluster: Hs.387262

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911

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

SABiosciences Custom PCR Arrays for MCF2

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCF2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCF2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MCF2 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MCF2¹	MCF.2 cell line derived transforming sequence	69.23(n) 65.78(a)		422253 XM_420239.3 XP_420239.3
lizard (Anolis carolinensis)	Reptilia	MCF2⁶	--	61(a)	1 ↔ 1	GL343694.1(1612-63783)
zebrafish (Danio rerio)	Actinopterygii	mcf2a¹	MCF.2 cell line derived transforming sequence a	58.92(n) 54.85(a)		557201 XM_680215.5 XP_685307.5
fruit fly (Drosophila melanogaster)	Insecta	CG30440³	guanyl-nucleotide exchange factor	39(a)		41F4 --
worm (Caenorhabditis elegans)	Secernentea	cgef-1⁶	CDC-42 Guanine nucleotide Exchange Factor family m...	18(a)	1 → many	X(2785593-2799235)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MCF2 gene

KALRN² ARHGEF25² PLEKHG4B² MCF2L2² TRIO² MCF2L² KIAA1755² PLEKHG4²

ARHGEF40²

6 SIMAP similar genes for MCF2 using alignment to 4 protein entries: MCF2_HUMAN (see all proteins):

MCF2L tgat MCF2L2 KALRN PREX2 TRIO

MCF2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150965069^1,2		--	138663577(+)	`AGCTAG/TCTATG`	6	--	ds500¹		0	--	--	--	--
rs183914308^1,2		--	138663643(+)	`GCATTA/CCCATG`	6	--	ds500¹		0	--	--	--	--
rs6635886^1,2	C,F,A,H	--	138663732(+)	`TTTGCT/CTGGAG`	6	--	ds500¹		10		NS EA NA	1190
rs186766683^1,2		--	138663989(+)	`GAAAAC/TAGCAG`	6	--	ut3¹		0	--	--	--	--
rs191674698^1,2		--	138664045(+)	`AAAAAA/TGTGTG`	6	--	ut3¹		0	--	--	--	--
rs144640348^1,2	C	--	138664120(+)	`ACAGAC/TAGTAG`	6	--	ut3¹		0	--	--	--	--
rs73634050^1,2	C	--	138664615(+)	`CATTTC/GACATA`	8	S *	ut3¹ stg¹		1		WA	2
rs148114792^1,2	C	--	138664635(+)	`TCAATA/GTAGGA`	12	H Y	mis¹ syn¹		1		NA	4544
rs141871184^1,2	F	--	138664636(+)	`CAATAT/CAGGAG`	12	/L /Y /C	syn¹ mis¹		1		NA	4544
rs150638729^1,2	C,F	--	138664661(+)	`CAGGTC/TTCTAC`	12	K R N D	mis¹		1		NA	4544

HapMap Linkage Disequilibrium report for MCF2 (138663929 - 138790386 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for MCF2
2 CNVs: 97008 83774
6 Indels: 97010 83777 97009 83776 83775 83778
Locus Specific Mutation Databases (LSDB): MCF2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MCF2 for disorders About GeneDecksing

OMIM gene information: 311030 OMIM disorders: --

UniProtKB/Swiss-Prot: MCF2_HUMAN, P10911

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

13 diseases for MCF2: About MalaCards

aarskog-scott syndrome scott syndrome testicular germ cell tumor germ cell tumor

autism spectrum disorder b-cell lymphomas neuroectodermal tumors lateral sclerosis

sarcoma leukemia schizophrenia malaria

neuronitis

2 diseases from the University of Copenhagen DISEASES database for MCF2:

Aarskog-Scott syndrome Malaria

5 Novoseek disease relationships for MCF2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphoma b-cell	11.5	2	15163014 (1), 15306850 (1)
dysplasia	6.74	3	8969170 (1), 8994827 (1), 9671479 (1)
leukemia	2.92	2	15276214 (1), 15163014 (1)
tumors	0	1	2098495 (1)
lymphoma	0	1	15163014 (1)

Tumor Gene Database (TGDB): MCF2

Export disorders for MCF2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MCF2 gene, integrated from 9 sources (see all 187):
(articles sorted by number of sources associating them with MCF2)

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Activation of a mcf.2 oncogene by deletion of amino-terminal coding sequences. (PubMed id 2577874)^{1, 2, 3} Noguchi T.... Birnbaum D. (1988)
Activation of the guanine nucleotide exchange factor Dbl following ACK1-dependent tyrosine phosphorylation. (PubMed id 10652228)^{1, 2, 9} Kato J....Satoh T. (2000)
Alternative splicing variants of the human DBL (MCF-2) proto- oncogene. (PubMed id 12445822)^{1, 2, 9} Komai K.... Shiozawa S. (2002)
Localization of the 5' end of the MCF2 oncogene to hu man chromosome 15q15----q23. (PubMed id 1611909)^{1, 3, 9} Galland F....Birnbaum D. (1992)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Cellular transformation and guanine nucleotide exchange activity are catalyzed by a common domain on the dbl oncogene product. (PubMed id 8276860)^{1, 2} Hart M.J.... Zheng Y. (1994)
A region of proto-dbl essential for its transforming activity shows sequence similarity to a yeast cell cycle gene, CDC24, and the human breakpoint cluster gene, bcr. (PubMed id 2065022)^{1, 2} Ron D.... Eva A. (1991)
The predicted DBL oncogene product defines a distinct class of transforming proteins. (PubMed id 3281159)^{1, 2} Eva A.... Aaronson S.A. (1988)
Molecular cloning and characterization of the human dbl proto- oncogene: evidence that its overexpression is sufficient to transform NIH/3T3 cells. (PubMed id 3056717)^{1, 2} Ron D.... Eva A. (1988)
Characterization of novel splicing variants of the mouse MCF-2 (DBL) proto-oncogene. (PubMed id 13679059)^{1, 9} Komai K....Shiozawa S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4168	HGNC: 6940	AceView: MCF2	Ensembl:ENSG00000101977	euGenes: HUgn4168
ECgene: MCF2	H-InvDB: MCF2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MCF2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MCF2	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MCF2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MCF2 gene:
Search GeneIP for patents involving MCF2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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MCF.2 cell line derived transforming sequence

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MCF.2 cell line derived transforming sequence

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