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
  • Probable Guanine Nucleotide Exchange Factor MCF2L2 3 4
  • MCF2-Transforming Sequence-Like Protein 2 3 4
  • ARHGEF22 2 3
  • KIAA0861 2 4
  • MCF2L2 5
  • DRG 4

External Ids for MCF2L2 Gene

Previous GeneCards Identifiers for MCF2L2 Gene

  • GC03M184378
  • GC03M182895
  • GC03M180301
  • GC03M183178

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 Microphthalmia, Syndromic 3 and Diabetes Mellitus. 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 MCF2L2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCF2L2 Gene

Genomics for MCF2L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCF2L2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J183427 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 261.6 +0.5 477 2.6 ZNF207 MYC ZNF600 POLR2A ZIC2 REST SMAD5 BHLHE40 ZNF341 MNT MCF2L2 YEATS2 RPS3P3 LINC00888 piR-57801-015 B3GNT5
GH03J183400 Promoter 0.9 EPDnew 261.4 +28.2 28212 0.1 IKZF1 HES1 BHLHE40 SKIL HDAC2 ZEB2 ATF4 NR2F6 HDAC1 TRIM28 MCF2L2 LAMP3 piR-57801-015 B3GNT5
GH03J183482 Enhancer 1 Ensembl ENCODE dbSUPER 17.4 -56.1 -56122 5 ATF3 YY1 CEBPB MAFF RXRA ZNF316 MAFK JUND HNF4A MAFG lnc-KLHL24-6 MCF2L2 LINC00888 ENSG00000251730 ENSG00000253092 SNORA63D SNORA63E KLHL6 YEATS2 KLHL24
GH03J183178 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10.5 +249.5 249547 2.5 EZH2 REST ZNF341 NFATC3 CTCF EBF1 SAFB SKIL SMARCA4 MAZ lnc-LAMP3-1 MCCC1 RPS3P3 DVL3 MCF2L2 ATP11B EIF2B5 SNODB1713 SNORD3P4 LAMP3
GH03J183536 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -108.6 -108617 2.7 MYC POLR2A BCL11A IRF4 TAL1 ZNF316 EBF1 CBFB SMARCA5 NFE2 KLHL6 KLHL24 B3GNT5 YEATS2 MCF2L2 HSALNG0031165 piR-30350-037
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCF2L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCF2L2

Top Transcription factor binding sites by QIAGEN in the MCF2L2 gene promoter:
  • En-1

Genomic Locations for MCF2L2 Gene

Latest Assembly
252,663 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
250,579 bases
Minus strand

(GRCh37/hg19 by Ensembl)
250,736 bases
Minus strand

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

    Protein attributes for MCF2L2 Gene

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

    Alternative splice isoforms for MCF2L2 Gene


neXtProt entry for MCF2L2 Gene

Post-translational modifications for MCF2L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCF2L2 Gene

Domains & Families for MCF2L2 Gene

Gene Families for MCF2L2 Gene

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

Protein Domains for MCF2L2 Gene

Suggested Antigen Peptide Sequences for MCF2L2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51363, highly similar to Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA (B4DWV8_HUMAN)
  • MCF2-transforming sequence-like protein 2 (MF2L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MCF2 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:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with MCF2L2: view
genes like me logo Genes that share phenotypes with MCF2L2: view

miRNA for MCF2L2 Gene

miRTarBase miRNAs that target MCF2L2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCF2L2

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

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 3
plasma membrane 2
nucleus 2
extracellular 1
mitochondrion 1
cytoskeleton 0
peroxisome 0

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

PathCards logo

SuperPathways for MCF2L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MCF2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity 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

mRNA/cDNA for MCF2L2 Gene

14 NCBI additional mRNA sequence :
14 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 MCF2L2

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

No ASD Table

Relevant External Links for MCF2L2 Gene

GeneLoc Exon Structure for

Expression for MCF2L2 Gene

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

Protein tissue co-expression partners for MCF2L2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCF2L2

SOURCE GeneReport for Unigene cluster for MCF2L2 Gene:


mRNA Expression by UniProt/SwissProt for MCF2L2 Gene:

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

Primer products for research

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
(Pan troglodytes)
Mammalia MCF2L2 29 30
  • 99.31 (n)
(Canis familiaris)
Mammalia MCF2L2 29 30
  • 86.99 (n)
(Bos Taurus)
Mammalia MCF2L2 29 30
  • 85.44 (n)
(Ornithorhynchus anatinus)
Mammalia MCF2L2 30
  • 84 (a)
(Monodelphis domestica)
Mammalia MCF2L2 30
  • 52 (a)
(Gallus gallus)
Aves MCF2L2 30
  • 50 (a)
(Anolis carolinensis)
Reptilia MCF2L2 30
  • 49 (a)
(Danio rerio)
Actinopterygii MCF2L2 30
  • 49 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG30440 30
  • 19 (a)
(Caenorhabditis elegans)
Secernentea cgef-1 30
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
Species where no ortholog for MCF2L2 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)
  • 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 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for MCF2L2 Gene

Gene Tree for MCF2L2 (if available)
Gene Tree for MCF2L2 (if available)
Evolutionary constrained regions (ECRs) for MCF2L2: view image
Alliance of Genome Resources:
Additional Orthologs for MCF2L2

Paralogs for MCF2L2 Gene

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

  • C9J326_HUMAN Pseudogenes for MCF2L2 Gene

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

Variants for MCF2L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCF2L2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs156032739 A breast cancer sample p.Leu1039Phe
rs767614039 A colorectal cancer sample p.Arg622His
VAR_043588 A colorectal cancer sample p.Leu254Pro
rs12632177 -- p.Thr159Met
rs13082605 -- p.Asn277Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCF2L2 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 MCF2L2 Gene

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for MCF2L2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCF2L2 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
microphthalmia, syndromic 3
  • mcops3
diabetes mellitus
  • diabetes
- elite association - COSMIC cancer census association via MalaCards


  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's 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 variants affecting the gene represented in this entry.

Additional Disease Information for MCF2L2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  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 40
  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 40
  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 40
  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

Products for MCF2L2 Gene

Sources for MCF2L2 Gene