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Aliases for MCF2L2 Gene

Aliases for MCF2L2 Gene

  • MCF.2 Cell Line Derived Transforming Sequence-Like 2 2 3
  • 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

Summaries for MCF2L2 Gene

GeneCards Summary for MCF2L2 Gene

MCF2L2 (MCF.2 Cell Line Derived Transforming Sequence-Like 2) is a Protein Coding gene. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

UniProtKB/Swiss-Prot for MCF2L2 Gene

  • Probably functions as a guanine nucleotide exchange factor.

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

Genomics for MCF2L2 Gene

Genomic Location for MCF2L2 Gene

Start:
183,178,004 bp from pter
End:
183,428,778 bp from pter
Size:
250,775 bases
Orientation:
Minus strand

Genomic View for MCF2L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCF2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCF2L2 Gene

Regulatory Elements for MCF2L2 Gene

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

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

Proteomics data for MCF2L2 Gene at MOPED

Post-translational modifications for MCF2L2 Gene

No Post-translational modifications

Other Protein References for MCF2L2 Gene

No data available for DME Specific Peptides for MCF2L2 Gene

Domains for MCF2L2 Gene

Gene Families for MCF2L2 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors

Protein Domains for MCF2L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YR7

UniProtKB/Swiss-Prot:

MF2L2_HUMAN
Domain:
  • Contains 1 CRAL-TRIO domain.:
    • Q86YR7
  • Contains 1 DH (DBL-homology) domain.:
    • Q86YR7
  • Contains 1 PH domain.:
    • Q86YR7
Family:
  • Belongs to the MCF2 family.:
    • Q86YR7
Similarity:
  • Contains 1 spectrin repeat.:
    • Q86YR7
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.

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 --
GO:0005515 protein binding --
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MCF2L2 Gene

Localization for MCF2L2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCF2L2 Gene COMPARTMENTS Subcellular localization image for MCF2L2 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
peroxisome 1
plasma membrane 1

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

Pathways 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 --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with MCF2L2: view

No data available for Pathways by source for MCF2L2 Gene

Compounds for MCF2L2 Gene

(3) HMDB Compounds for MCF2L2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

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 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) (7.6), Brain - Cortex (6.7), Brain - Anterior cingulate cortex (BA24) (6.2), Brain - Hippocampus (4.3), Brain - Nucleus accumbens (basal ganglia) (4.2), and Brain - Amygdala (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MCF2L2 Gene

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.
genes like me logo Genes that share expressions with MCF2L2: view

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 35
  • 99.31 (n)
  • 99.01 (a)
MCF2L2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MCF2L2 35
  • 85.44 (n)
  • 80.44 (a)
MCF2L2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCF2L2 35
  • 86.99 (n)
  • 83.86 (a)
MCF2L2 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCF2L2 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCF2L2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCF2L2 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCF2L2 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MCF2L2 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30440 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cgef-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for MCF2L2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs472795 -- 183,188,020(+) TAACA(A/G)AGGCC intron-variant
rs502289 -- 183,188,861(+) tactc(A/G)gaagg intron-variant
rs507079 -- 183,189,432(+) TCTTG(A/G)AAAGG intron-variant
rs529055 -- 183,181,220(+) CAAGT(A/G)GCGTC intron-variant
rs534333 -- 183,190,077(+) tagtc(C/T)gaccc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508970 CNV Insertion 20534489
nsv822362 CNV Gain 20364138
esv996921 CNV Deletion 20482838
esv1507474 CNV Deletion 17803354
esv2726288 CNV Deletion 23290073
esv2726289 CNV Deletion 23290073
nsv4142 CNV Insertion 18451855
esv2583133 CNV Insertion 19546169
esv1779554 CNV Insertion 17803354
esv8568 CNV Gain 19470904
esv2726290 CNV Deletion 23290073
esv2726291 CNV Deletion 23290073
dgv899e199 CNV Deletion 23128226
esv25942 CNV Loss 19812545
nsv522644 CNV Loss 19592680
nsv517754 CNV Loss 19592680

Relevant External Links for MCF2L2 Gene

HapMap Linkage Disequilibrium report
MCF2L2
Human Gene Mutation Database (HGMD)
MCF2L2

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

Disorders for MCF2L2 Gene

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. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Relevant External Links for MCF2L2

Genetic Association Database (GAD)
MCF2L2
Human Genome Epidemiology (HuGE) Navigator
MCF2L2
genes like me logo Genes that share disorders with MCF2L2: view

Publications for MCF2L2 Gene

  1. Family-based association study of the MCF2L2 gene and polycystic ovary syndrome. (PMID: 19648752) Zheng Q. … Chen Z.J. (Gynecol. Obstet. Invest. 2009) 3 23 48
  2. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. (PMID: 18259684) Takeuchi F. … Kato N. (J. Hum. Genet. 2008) 3 4 48
  3. 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 Res. 1998) 3 4
  4. 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 48
  5. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus. (PMID: 20667095) Zhang D. … Gu H.F. (BMC Med. Genet. 2010) 3 48

Products for MCF2L2 Gene

Sources for MCF2L2 Gene

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