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Aliases for MCF2L2 Gene

Aliases for MCF2L2 Gene

  • MCF.2 Cell Line Derived Transforming Sequence-Like 2 2 3 5
  • Dbs-Related Rho Family Guanine Nucleotide Exchange Factor 3 4
  • MCF2-Transforming Sequence-Like Protein 2 3 4
  • Probable Guanine Nucleotide Exchange Factor MCF2L2 3
  • ARHGEF22 3
  • KIAA0861 4
  • DRG 4

External Ids for MCF2L2 Gene

Previous GeneCards Identifiers for MCF2L2 Gene

  • GC03M184378
  • GC03M182895
  • GC03M180301

Summaries for MCF2L2 Gene

GeneCards Summary for MCF2L2 Gene

MCF2L2 (MCF.2 Cell Line Derived Transforming Sequence-Like 2) is a Protein Coding gene. Diseases associated with MCF2L2 include Myasthenic Syndrome, Congenital, 5. 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 for MCF2L2 Gene

  • Probably functions as a guanine nucleotide exchange factor.

Additional gene information for MCF2L2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCF2L2 Gene

Genomics for MCF2L2 Gene

GeneHancer (GH) Regulatory Elements for MCF2L2 Gene

Promoters and enhancers for MCF2L2 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
GH03I183427 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 561.7 +0.2 187 1.6 PKNOX1 ATF1 SIN3A POLR2B GLIS2 E2F8 ZNF207 ATF7 SP3 REST MCF2L2 LINC00888 GC03M183259 RNA5SP151
GH03I183536 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -108.6 -108617 2.7 HDGF HDAC1 BATF KLF5 IRF4 TCF12 ZNF143 ATF7 ETV6 IKZF2 KLHL6 KLHL24 B3GNT5 YEATS2 MCF2L2 KLHL6-AS1 ENSG00000271682
GH03I183305 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +121.2 121155 5.1 PKNOX1 ATF1 MLX FEZF1 TCF12 ZNF766 ATF7 RUNX3 RXRA REST B3GNT5 KLHL6 EIF2B5 RNA5SP151 LAMP3 MCF2L2 KLHL24 GC03M183259
GH03I183369 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.7 +57.9 57886 3.7 HDGF PKNOX1 TCF12 ZNF766 ARID2 FOS ATF7 DEK REST ZNF592 B3GNT5 KLHL6 LAMP3 MCCC1 MCF2L2 KLHL24 GC03M183259 RNA5SP151
GH03I183539 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -112.5 -112457 3 HDGF BMI1 BATF IRF4 ZNF366 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 KLHL6 B3GNT5 KLHL24 YEATS2 MCF2L2 KLHL6-AS1 ENSG00000271682
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCF2L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCF2L2 gene promoter:

Genomic Locations for MCF2L2 Gene

Genomic Locations for MCF2L2 Gene
chr3:183,178,004-183,428,778
(GRCh38/hg38)
Size:
250,775 bases
Orientation:
Minus strand
chr3:182,895,831-183,146,566
(GRCh37/hg19)

Genomic View for MCF2L2 Gene

Genes around MCF2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCF2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCF2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCF2L2 Gene

Proteins for MCF2L2 Gene

  • Protein details for MCF2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YR7-MF2L2_HUMAN
    Recommended name:
    Probable guanine nucleotide exchange factor MCF2L2
    Protein Accession:
    Q86YR7
    Secondary Accessions:
    • O94942
    • Q6P2B8
    • Q6ZVJ5
    • Q8N318

    Protein attributes for MCF2L2 Gene

    Size:
    1114 amino acids
    Molecular mass:
    126993 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAO19651.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MCF2L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCF2L2 Gene

Post-translational modifications for MCF2L2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MCF2L2 Gene

Domains & Families for MCF2L2 Gene

Gene Families for MCF2L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q86YR7

UniProtKB/Swiss-Prot:

MF2L2_HUMAN :
  • Belongs to the MCF2 family.
Family:
  • Belongs to the MCF2 family.
genes like me logo Genes that share domains with MCF2L2: view

Function for MCF2L2 Gene

Molecular function for MCF2L2 Gene

UniProtKB/Swiss-Prot Function:
Probably functions as a guanine nucleotide exchange factor.

Phenotypes From GWAS Catalog for MCF2L2 Gene

Gene Ontology (GO) - Molecular Function for MCF2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with MCF2L2: view

Phenotypes for MCF2L2 Gene

genes like me logo Genes that share phenotypes with MCF2L2: view

miRNA for MCF2L2 Gene

miRTarBase miRNAs that target MCF2L2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCF2L2 Gene

Localization for MCF2L2 Gene

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 MCF2L2 gene
Compartment Confidence
cytosol 4
plasma membrane 2
nucleus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MCF2L2 Gene

Pathways & Interactions for MCF2L2 Gene

SuperPathways for MCF2L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MCF2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with MCF2L2: view

No data available for Pathways by source and SIGNOR curated interactions for MCF2L2 Gene

Drugs & Compounds for MCF2L2 Gene

(3) Drugs for MCF2L2 Gene - From: HMDB

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
genes like me logo Genes that share compounds with MCF2L2: view

Transcripts for MCF2L2 Gene

Unigene Clusters for MCF2L2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCF2L2 Gene

No ASD Table

Relevant External Links for MCF2L2 Gene

GeneLoc Exon Structure for
MCF2L2
ECgene alternative splicing isoforms for
MCF2L2

Expression for MCF2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCF2L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCF2L2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.6), Brain - Cortex (x6.7), Brain - Anterior cingulate cortex (BA24) (x6.2), Brain - Hippocampus (x4.3), Brain - Nucleus accumbens (basal ganglia) (x4.2), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for MCF2L2 Gene

This gene is overexpressed in Heart (52.7) and Platelet (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MCF2L2 Gene



Protein tissue co-expression partners for MCF2L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCF2L2 Gene:

MCF2L2

SOURCE GeneReport for Unigene cluster for MCF2L2 Gene:

Hs.208267

mRNA Expression by UniProt/SwissProt for MCF2L2 Gene:

Q86YR7-MF2L2_HUMAN
Tissue specificity: Significantly expressed in brain and modestly in pancreas, brain and testis.

Evidence on tissue expression from TISSUES for MCF2L2 Gene

  • Nervous system(4.3)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with MCF2L2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MCF2L2 Gene

Orthologs for MCF2L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCF2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCF2L2 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia MCF2L2 33 34
  • 86.99 (n)
cow
(Bos Taurus)
Mammalia MCF2L2 33 34
  • 85.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCF2L2 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCF2L2 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCF2L2 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCF2L2 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MCF2L2 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30440 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cgef-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for MCF2L2 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MCF2L2 Gene

ENSEMBL:
Gene Tree for MCF2L2 (if available)
TreeFam:
Gene Tree for MCF2L2 (if available)

Paralogs for MCF2L2 Gene

Paralogs for MCF2L2 Gene

(5) SIMAP similar genes for MCF2L2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MCF2L2 Gene

genes like me logo Genes that share paralogs with MCF2L2: view

Variants for MCF2L2 Gene

Sequence variations from dbSNP and Humsavar for MCF2L2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs767614039 A colorectal cancer sample 183,231,015(-) C/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
VAR_043588 A colorectal cancer sample p.Leu254Pro
VAR_043597 A breast cancer sample p.Leu1039Phe
rs1000006011 -- 183,347,386(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000008253 -- 183,287,178(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MCF2L2 Gene

Variant ID Type Subtype PubMed ID
nsv822362 CNV gain 20364138
nsv592655 CNV gain 21841781
nsv522644 CNV loss 19592680
nsv517754 CNV loss 19592680
nsv508970 CNV insertion 20534489
nsv472303 CNV novel sequence insertion 20440878
nsv4142 CNV insertion 18451855
nsv1145008 CNV deletion 24896259
nsv1128007 CNV deletion 24896259
nsv1123714 CNV deletion 24896259
nsv1006872 CNV loss 25217958
esv996921 CNV deletion 20482838
esv8568 CNV gain 19470904
esv3893833 CNV gain 25118596
esv3598923 CNV loss 21293372
esv3598922 CNV loss 21293372
esv3563006 CNV deletion 23714750
esv3442467 CNV insertion 20981092
esv3389783 CNV duplication 20981092
esv2726291 CNV deletion 23290073
esv2726290 CNV deletion 23290073
esv2726289 CNV deletion 23290073
esv2726288 CNV deletion 23290073
esv25942 CNV loss 19812545
esv2583133 CNV insertion 19546169
esv1779554 CNV insertion 17803354
esv1507474 CNV deletion 17803354
dgv960e214 CNV gain 21293372
dgv899e199 CNV deletion 23128226
dgv308e215 CNV deletion 23714750

Variation tolerance for MCF2L2 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.04; 93.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCF2L2 Gene

Human Gene Mutation Database (HGMD)
MCF2L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCF2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCF2L2 Gene

Disorders for MCF2L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MCF2L2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 5
  • cms5
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MF2L2_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:18259684}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for MCF2L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MCF2L2: view

No data available for Genatlas for MCF2L2 Gene

Publications for MCF2L2 Gene

  1. Family-based association study of the MCF2L2 gene and polycystic ovary syndrome. (PMID: 19648752) Zheng Q … Chen ZJ (Gynecologic and obstetric investigation 2009) 3 22 44 58
  2. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. (PMID: 18259684) Takeuchi F … Kato N (Journal of human genetics 2008) 3 4 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus. (PMID: 20667095) Zhang D … Gu HF (BMC medical genetics 2010) 3 44 58
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58

Products for MCF2L2 Gene

Sources for MCF2L2 Gene

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