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Aliases for MCF2L Gene

Aliases for MCF2L Gene

  • MCF.2 Cell Line Derived Transforming Sequence Like 2 3 5
  • DBLs Big Sister 3 4
  • OST 3 4
  • MCF2 Transforming Sequence-Like Protein 3
  • MCF2-Transforming Sequence-Like Protein 4
  • Guanine Nucleotide Exchange Factor DBS 3
  • ARHGEF14 3
  • KIAA0362 4
  • DBS 3

External Ids for MCF2L Gene

Previous GeneCards Identifiers for MCF2L Gene

  • GC13P112232
  • GC13U900016
  • GC13P112709
  • GC13P111570
  • GC13P112670
  • GC13P113548
  • GC13P094063

Summaries for MCF2L Gene

Entrez Gene Summary for MCF2L Gene

  • This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for MCF2L Gene

MCF2L (MCF.2 Cell Line Derived Transforming Sequence Like) is a Protein Coding gene. Diseases associated with MCF2L include Atypical Autism and Osteoarthritis. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity and 1-phosphatidylinositol binding. An important paralog of this gene is MCF2.

UniProtKB/Swiss-Prot for MCF2L Gene

  • Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669).

  • Isoform 3: Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669).

Gene Wiki entry for MCF2L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCF2L Gene

Genomics for MCF2L Gene

Regulatory Elements for MCF2L Gene

Enhancers for MCF2L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G112942 1.6 FANTOM5 ENCODE dbSUPER 42.7 +48.9 48907 1.9 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 DEK MCF2L TMEM255B GC13P112922 ENSG00000267868
GH13G112970 1.1 FANTOM5 dbSUPER 45.6 +76.3 76330 0.3 FEZF1 ZNF2 ZEB1 ZFHX2 CTBP1 GLIS2 ZBTB48 PATZ1 ZNF600 ZBTB20 MCF2L PROZ MCF2L-AS1 ENSG00000269356
GH13G113021 1.5 Ensembl ENCODE dbSUPER 19.2 +128.6 128581 2.5 PKNOX1 MLX ARID4B DMAP1 ZNF48 YY1 GATA2 FOS SP5 ZHX2 MCF2L MCF2L-AS1 F7 PROZ F10 KARSP2 F10-AS1 ENSG00000269376 PIR52168
GH13G113083 1 ENCODE dbSUPER 27.1 +189.4 189421 1.5 TBP CTCF KLF1 PKNOX1 MXI1 ZBTB21 MAX RFX5 ZNF366 SCRT2 MCF2L F7 PROZ MCF2L-AS1 GC13M113087 GC13M113086 PIR52168
GH13G112984 1.3 Ensembl ENCODE dbSUPER 17.6 +91.0 90951 1.4 ELF3 FOXA2 ZFP64 ARID4B DMAP1 RAD21 YY1 SCRT2 ZNF202 SP5 MCF2L DCUN1D2-AS DCUN1D2 ENSG00000267868 MCF2L-AS1 ENSG00000269356
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCF2L on UCSC Golden Path with GeneCards custom track

Promoters for MCF2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066051 -78 601 CTCF KLF1 SAP130 ARID4B DMAP1 RBBP5 ZIC2 GATA3 GLIS2 POLR2A

Genomic Location for MCF2L Gene

Chromosome:
13
Start:
112,894,378 bp from pter
End:
113,099,739 bp from pter
Size:
205,362 bases
Orientation:
Plus strand

Genomic View for MCF2L Gene

Genes around MCF2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCF2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCF2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCF2L Gene

Proteins for MCF2L Gene

  • Protein details for MCF2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15068-MCF2L_HUMAN
    Recommended name:
    Guanine nucleotide exchange factor DBS
    Protein Accession:
    O15068
    Secondary Accessions:
    • A2A2X1
    • A2A2X2
    • A2A3G6
    • A2A3G8
    • B4DHD6
    • B4DIL6
    • E9PDN8
    • Q5JU56
    • Q5VXT1
    • Q6ZWD4
    • Q765G8
    • Q765G9
    • Q8N679

    Protein attributes for MCF2L Gene

    Size:
    1137 amino acids
    Molecular mass:
    128109 Da
    Quaternary structure:
    • Interacts with GTP-bound RAC1 (By similarity). Interacts with CDC42 (PubMed:15157669). Interacts with RHOA. Interacts with CCPG1, which results in specific inhibition of its exchange activity toward RHOA, but does not affect its activity on CDC42 (By similarity).
    SequenceCaution:
    • Sequence=BAA20817.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MCF2L Gene

neXtProt entry for MCF2L Gene

Post-translational modifications for MCF2L Gene

  • Ubiquitination at posLast=182182
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MCF2L Gene

Domains & Families for MCF2L Gene

Graphical View of Domain Structure for InterPro Entry

O15068

UniProtKB/Swiss-Prot:

MCF2L_HUMAN :
  • The CRAL-TRIO domain mediates interaction with various inositol phospholipids, such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P).
  • Belongs to the MCF2 family.
Domain:
  • The CRAL-TRIO domain mediates interaction with various inositol phospholipids, such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P).
  • The DH domain is involved in interaction with CCPG1.
Family:
  • Belongs to the MCF2 family.
genes like me logo Genes that share domains with MCF2L: view

Function for MCF2L Gene

Molecular function for MCF2L Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669).
UniProtKB/Swiss-Prot Function:
Isoform 3: Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669).

Gene Ontology (GO) - Molecular Function for MCF2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IDA 15157669
genes like me logo Genes that share ontologies with MCF2L: view
genes like me logo Genes that share phenotypes with MCF2L: view

Animal Models for MCF2L Gene

MGI Knock Outs for MCF2L:

Animal Model Products

  • Taconic Biosciences Mouse Models for MCF2L

CRISPR Products

miRNA for MCF2L Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCF2L Gene

Localization for MCF2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCF2L Gene

Isoform 5: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
Isoform 3: Cytoplasm. Endomembrane system. Note=Interaction with membranes enriched in phosphoinositides is mediated by the CRAL-TRIO domain. {ECO:0000269 PubMed:15157669}.
Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.

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 MCF2L gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MCF2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MCF2L: view

Pathways & Interactions for MCF2L Gene

genes like me logo Genes that share pathways with MCF2L: view

Gene Ontology (GO) - Biological Process for MCF2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with MCF2L: view

No data available for SIGNOR curated interactions for MCF2L Gene

Drugs & Compounds for MCF2L Gene

(4) Drugs for MCF2L 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

(1) Additional Compounds for MCF2L Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MCF2L: view

Transcripts for MCF2L Gene

Unigene Clusters for MCF2L Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCF2L Gene

No ASD Table

Relevant External Links for MCF2L Gene

GeneLoc Exon Structure for
MCF2L
ECgene alternative splicing isoforms for
MCF2L

Expression for MCF2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCF2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCF2L Gene

This gene is overexpressed in Brain - Cerebellum (x6.1) and Brain - Cerebellar Hemisphere (x5.7).

Protein differential expression in normal tissues from HIPED for MCF2L Gene

This gene is overexpressed in Fetal Brain (44.9) and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCF2L Gene



NURSA nuclear receptor signaling pathways regulating expression of MCF2L Gene:

MCF2L

SOURCE GeneReport for Unigene cluster for MCF2L Gene:

Hs.170422

Evidence on tissue expression from TISSUES for MCF2L Gene

  • Nervous system(4.9)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with MCF2L: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCF2L Gene

Orthologs for MCF2L Gene

This gene was present in the common ancestor of animals.

Orthologs for MCF2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCF2L 34 35
  • 99.26 (n)
mouse
(Mus musculus)
Mammalia Mcf2l 34 16 35
  • 85.41 (n)
rat
(Rattus norvegicus)
Mammalia Mcf2l 34
  • 84.84 (n)
dog
(Canis familiaris)
Mammalia MCF2L 34 35
  • 84.43 (n)
cow
(Bos Taurus)
Mammalia MCF2L 34 35
  • 82.91 (n)
oppossum
(Monodelphis domestica)
Mammalia MCF2L 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCF2L 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCF2L 34 35
  • 71.08 (n)
lizard
(Anolis carolinensis)
Reptilia MCF2L 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497730 34
  • 67.43 (n)
zebrafish
(Danio rerio)
Actinopterygii mcf2la 34 35
  • 66.64 (n)
mcf2lb 35
  • 57 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6690 34
fruit fly
(Drosophila melanogaster)
Insecta CG30440 36 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea cgef-1 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for MCF2L was found in the sources mined by GeneCards:
  • 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)
  • 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 MCF2L Gene

ENSEMBL:
Gene Tree for MCF2L (if available)
TreeFam:
Gene Tree for MCF2L (if available)

Paralogs for MCF2L Gene

Variants for MCF2L Gene

Sequence variations from dbSNP and Humsavar for MCF2L Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000020208 -- 112,980,678(+) CACGG(A/G)CAGAG intron-variant
rs1000032608 -- 113,088,020(+) TCTCC(C/T)TCCCC intron-variant
rs1000060691 -- 112,943,656(+) TACCC(A/G)GGGAC intron-variant
rs1000065835 -- 113,097,459(+) GACTT(C/T)GGGGG utr-variant-3-prime
rs1000066324 -- 113,010,630(+) CCACC(G/T)GCTGC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MCF2L Gene

Variant ID Type Subtype PubMed ID
dgv3424n54 CNV loss 21841781
dgv3425n54 CNV loss 21841781
dgv3426n54 CNV gain 21841781
dgv3427n54 CNV loss 21841781
esv1002984 CNV deletion 20482838
esv1008448 CNV deletion 20482838
esv1071073 CNV deletion 17803354
esv1104322 CNV insertion 17803354
esv1191518 CNV insertion 17803354
esv1345410 CNV insertion 17803354
esv1660371 CNV deletion 17803354
esv2064600 CNV deletion 18987734
esv22881 CNV loss 19812545
esv2519311 CNV insertion 19546169
esv26193 CNV loss 19812545
esv2671771 CNV deletion 23128226
esv2748215 CNV deletion 23290073
esv2748216 CNV deletion 23290073
esv2748217 CNV deletion 23290073
esv2748219 CNV deletion 23290073
esv2748220 CNV deletion 23290073
esv2748221 CNV deletion 23290073
esv2748222 CNV deletion 23290073
esv2748223 CNV deletion 23290073
esv2748224 CNV deletion 23290073
esv2748225 CNV deletion 23290073
esv2748226 CNV deletion 23290073
esv2748227 CNV deletion 23290073
esv2748228 CNV deletion 23290073
esv2748230 CNV deletion 23290073
esv2748231 CNV deletion 23290073
esv2748232 CNV deletion 23290073
esv2748233 CNV deletion 23290073
esv2748234 CNV deletion 23290073
esv2748235 CNV deletion 23290073
esv2748236 CNV deletion 23290073
esv2748237 CNV deletion 23290073
esv2748238 CNV deletion 23290073
esv2748239 CNV deletion 23290073
esv2748241 CNV deletion 23290073
esv2748242 CNV deletion 23290073
esv2748243 CNV deletion 23290073
esv2759969 CNV loss 17122850
esv30000 CNV loss 17803354
esv3352952 CNV duplication 20981092
esv3368833 CNV duplication 20981092
esv3413701 CNV duplication 20981092
esv3440401 CNV duplication 20981092
esv3441083 CNV duplication 20981092
esv3445307 CNV duplication 20981092
esv3551136 CNV deletion 23714750
esv3551138 CNV deletion 23714750
esv3633594 CNV loss 21293372
esv3633595 CNV loss 21293372
esv3633596 CNV loss 21293372
esv992602 CNV insertion 20482838
nsv1044644 CNV gain 25217958
nsv1047144 CNV gain 25217958
nsv1048814 CNV gain 25217958
nsv1051556 CNV gain 25217958
nsv1131066 CNV deletion 24896259
nsv1132863 CNV insertion 24896259
nsv1142842 CNV tandem duplication 24896259
nsv428291 CNV loss 18775914
nsv509519 CNV insertion 20534489
nsv512341 CNV loss 21212237
nsv518044 CNV gain 19592680
nsv519639 CNV loss 19592680
nsv563258 CNV loss 21841781
nsv563260 CNV gain 21841781
nsv563261 CNV loss 21841781
nsv64645 CNV deletion 16902084
nsv818996 CNV gain 17921354
nsv819070 CNV gain 19587683
nsv821247 CNV deletion 20802225
nsv832723 CNV loss 17160897
nsv832724 CNV loss 17160897
nsv9111 CNV loss 18304495
nsv951924 CNV deletion 24416366

Variation tolerance for MCF2L Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCF2L Gene

Human Gene Mutation Database (HGMD)
MCF2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCF2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCF2L Gene

Disorders for MCF2L Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCF2L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atypical autism
  • pdd nos
osteoarthritis
  • arthropathy
- elite association - COSMIC cancer census association via MalaCards
Search MCF2L in MalaCards View complete list of genes associated with diseases

Relevant External Links for MCF2L

Genetic Association Database (GAD)
MCF2L
Human Genome Epidemiology (HuGE) Navigator
MCF2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCF2L
genes like me logo Genes that share disorders with MCF2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MCF2L Gene

Publications for MCF2L Gene

  1. Role of the Sec14-like domain of Dbl family exchange factors in the regulation of Rho family GTPases in different subcellular sites. (PMID: 15157669) Ueda S. … Satoh T. (Cell. Signal. 2004) 3 4 22 64
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4 64
  3. A variant in MCF2L is associated with osteoarthritis. (PMID: 21871595) Day-Williams A.G. … Zeggini E. (Am. J. Hum. Genet. 2011) 3 46 64
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M. … Kaibuchi K. (J. Hum. Genet. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for MCF2L Gene

Sources for MCF2L Gene

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