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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
  • MCF2 Transforming Sequence-Like Protein 3
  • MCF2-Transforming Sequence-Like Protein 4
  • ARHGEF14 3
  • KIAA0362 4
  • OST 3
  • 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 Congenital Disorder Of Glycosylation, Type Ir and Atypical Autism. Among its related pathways are ERK Signaling and p75 NTR receptor-mediated signalling. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity and 1-phosphatidylinositol binding. An important paralog of this gene is ARHGEF40.

UniProtKB/Swiss-Prot for MCF2L Gene

  • Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the brain. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42.

Gene Wiki entry for MCF2L Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MCF2L on UCSC Golden Path with GeneCards custom track

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 CCPG1, which results in specific inhibition of its exchange activity toward RHOA (By similarity). Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P).
    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

Proteomics data for MCF2L Gene at MOPED

Post-translational modifications for MCF2L Gene

  • Ubiquitination at Lys 182
  • 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 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 involved in interaction with CCPG1.
  • Contains 1 CRAL-TRIO domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MCF2 family.
Similarity:
  • Contains 1 spectrin repeat.
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 potentially links pathways that signal through RAC1, RHOA and CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the brain. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42.

Gene Ontology (GO) - Molecular Function for MCF2L Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Flow Cytometry 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

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCF2L Gene COMPARTMENTS Subcellular localization image for MCF2L gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MCF2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15157669
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:0035025 positive regulation of Rho protein signal transduction IDA 15157669
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:

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 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, MOPED, and MaxQB for MCF2L Gene



SOURCE GeneReport for Unigene cluster for MCF2L Gene Hs.170422

genes like me logo Genes that share expression patterns with MCF2L: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MCF2L 35
  • 82.91 (n)
  • 83.18 (a)
MCF2L 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCF2L 35
  • 84.43 (n)
  • 86.12 (a)
MCF2L 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcf2l 35
  • 85.41 (n)
  • 89.31 (a)
Mcf2l 16
Mcf2l 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCF2L 35
  • 99.26 (n)
  • 99.56 (a)
MCF2L 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcf2l 35
  • 84.84 (n)
  • 88.66 (a)
oppossum
(Monodelphis domestica)
Mammalia MCF2L 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCF2L 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCF2L 35
  • 71.08 (n)
  • 76.64 (a)
MCF2L 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCF2L 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497730 35
  • 67.43 (n)
  • 71.22 (a)
zebrafish
(Danio rerio)
Actinopterygii mcf2la 35
  • 66.64 (n)
  • 66.45 (a)
mcf2la 36
  • 62 (a)
OneToMany
mcf2lb 36
  • 57 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6690 35
fruit fly
(Drosophila melanogaster)
Insecta CG30440 37
  • 40 (a)
CG30440 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cgef-1 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for MCF2L:
  • 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

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

Variants for MCF2L Gene

Sequence variations from dbSNP and Humsavar for MCF2L Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs2042 -- 112,957,529(-) GAGGC(A/G)CGGCA intron-variant
rs10665 -- 113,098,517(+) TATGG(A/G)TGACG utr-variant-3-prime
rs478261 -- 113,090,920(-) GGGCA(C/T)GGGAG intron-variant
rs486849 -- 113,077,772(-) GACAC(A/G)GAGGT intron-variant
rs487612 -- 113,086,964(-) TACAC(A/G)CCTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv596e1 CNV Complex 17122850
nsv428291 CNV Loss 18775914
nsv901039 CNV Loss 21882294
nsv832723 CNV Loss 17160897
essv1950 CNV CNV 17122850
dgv1797n71 CNV Loss 21882294
nsv509519 CNV Insertion 20534489
nsv901043 CNV Loss 21882294
nsv901045 CNV Loss 21882294
dgv1798n71 CNV Loss 21882294
esv2519311 CNV Insertion 19546169
esv1191518 CNV Insertion 17803354
esv2748215 CNV Deletion 23290073
esv2748216 CNV Deletion 23290073
esv1008448 CNV Deletion 20482838
esv1345410 CNV Insertion 17803354
esv2748217 CNV Deletion 23290073
esv2748219 CNV Deletion 23290073
esv2064600 CNV Deletion 18987734
esv2748220 CNV Deletion 23290073
nsv901049 CNV Loss 21882294
esv2748221 CNV Deletion 23290073
esv2748222 CNV Deletion 23290073
nsv518044 CNV Gain 19592680
nsv9111 CNV Loss 18304495
esv26193 CNV Loss 19812545
nsv821247 CNV Deletion 20802225
nsv512341 CNV Loss 21212237
nsv901050 CNV Loss 21882294
esv2748223 CNV Deletion 23290073
esv22881 CNV Loss 19812545
esv2748224 CNV Deletion 23290073
esv2671771 CNV Deletion 23128226
esv2748225 CNV Deletion 23290073
dgv1799n71 CNV Loss 21882294
esv2748226 CNV Deletion 23290073
esv2748227 CNV Deletion 23290073
esv2748228 CNV Deletion 23290073
esv2748230 CNV Deletion 23290073
esv30000 CNV Loss 17803354
esv2748231 CNV Deletion 23290073
esv2748232 CNV Deletion 23290073
nsv901053 CNV Loss 21882294
esv2748233 CNV Deletion 23290073
nsv901054 CNV Loss 21882294
esv2748234 CNV Deletion 23290073
esv1660371 CNV Deletion 17803354
dgv1800n71 CNV Loss 21882294
nsv832724 CNV Loss 17160897
nsv519639 CNV Loss 19592680
nsv819070 CNV Gain 19587683
esv2748235 CNV Deletion 23290073
esv2748236 CNV Deletion 23290073
esv2748237 CNV Deletion 23290073
esv2748238 CNV Deletion 23290073
esv1104322 CNV Insertion 17803354
nsv64645 CNV Loss 16902084
esv2748239 CNV Deletion 23290073
esv1071073 CNV Deletion 17803354
esv1002984 CNV Deletion 20482838
nsv818996 CNV Gain 17921354
esv2748241 CNV Deletion 23290073
esv992602 CNV Insertion 20482838
esv2748242 CNV Deletion 23290073
esv2748243 CNV Deletion 23290073

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

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

Disorders for MCF2L Gene

MalaCards: The human disease database

(3) MalaCards diseases for MCF2L Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ir
  • congenital disorder of glycosylation 1r
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. 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 67
  2. The rho-specific guanine nucleotide exchange factor Dbs regulates breast cancer cell migration. (PMID: 19366686) Liu Z. … Whitehead I.P. (J. Biol. Chem. 2009) 3 23
  3. Ccpg1, a novel scaffold protein that regulates the activity of the Rho guanine nucleotide exchange factor Dbs. (PMID: 17000758) Kostenko E.V. … Whitehead I.P. (Mol. Cell. Biol. 2006) 3 23
  4. 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 23
  5. Crystal structure of the DH/PH fragment of Dbs without bound GTPase. (PMID: 15274927) Worthylake D.K. … Sondek J. (Structure 2004) 3 23

Products for MCF2L Gene

Sources for MCF2L Gene

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