Human Gene MCF2L2 (ENST00000328913.8_11) from GENCODE V47lift37
  Description: MCF.2 cell line derived transforming sequence-like 2 (from RefSeq NM_015078.4)
Gencode Transcript: ENST00000328913.8_11
Gencode Gene: ENSG00000053524.13_17
Transcript (Including UTRs)
   Position: hg19 chr3:182,895,829-183,146,407 Size: 250,579 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg19 chr3:182,897,168-183,145,765 Size: 248,598 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:182,895,829-183,146,407)mRNA (may differ from genome)Protein (1114 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MF2L2_HUMAN
DESCRIPTION: RecName: Full=Probable guanine nucleotide exchange factor MCF2L2; AltName: Full=Dbs-related Rho family guanine nucleotide exchange factor; AltName: Full=MCF2-transforming sequence-like protein 2;
FUNCTION: Probably functions as a guanine nucleotide exchange factor (By similarity).
TISSUE SPECIFICITY: Significantly expressed in brain and modestly in pancreas, brain and testis.
DISEASE: Genetic variation in MCF2L2 may be associated with susceptibility to noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type 2.
SIMILARITY: Belongs to the MCF2 family.
SIMILARITY: Contains 1 CRAL-TRIO domain.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 spectrin repeat.
SEQUENCE CAUTION: Sequence=AAO19651.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCF2L2
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 5 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.92 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 125.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -321.40642-0.501 Picture PostScript Text
3' UTR -473.601339-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001251 - CRAL-TRIO_dom
IPR000219 - DH-domain
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR018159 - Spectrin/alpha-actinin

Pfam Domains:
PF00621 - RhoGEF domain
PF13716 - Divergent CRAL/TRIO domain

SCOP Domains:
46966 - Spectrin repeat
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
52087 - CRAL/TRIO domain

ModBase Predicted Comparative 3D Structure on Q86YR7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity

Biological Process:
GO:0035023 regulation of Rho protein signal transduction


-  Descriptions from all associated GenBank mRNAs
  AB020668 - Homo sapiens mRNA for KIAA0861 protein, partial cds.
AY172737 - Homo sapiens Rho family guanine-nucleotide exchange factor mRNA, complete cds.
BX649003 - Homo sapiens mRNA; cDNA DKFZp686K0690 (from clone DKFZp686K0690).
BC064632 - Homo sapiens MCF.2 cell line derived transforming sequence-like 2, mRNA (cDNA clone MGC:70350 IMAGE:5750039), complete cds.
KJ902281 - Synthetic construct Homo sapiens clone ccsbBroadEn_11675 MCF2L2 gene, encodes complete protein.
AK301698 - Homo sapiens cDNA FLJ51363 complete cds, highly similar to Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.
AK124500 - Homo sapiens cDNA FLJ42509 fis, clone BRACE2044286, moderately similar to GUANINE NUCLEOTIDE EXCHANGE FACTOR DBS.
AK310962 - Homo sapiens cDNA, FLJ18004.
BX648525 - Homo sapiens mRNA; cDNA DKFZp686H2395 (from clone DKFZp686H2395).
BX647790 - Homo sapiens mRNA; cDNA DKFZp686K0886 (from clone DKFZp686K0886).
BC029074 - Homo sapiens MCF.2 cell line derived transforming sequence-like 2, mRNA (cDNA clone IMAGE:4214717), partial cds.
JD267490 - Sequence 248514 from Patent EP1572962.
JD331103 - Sequence 312127 from Patent EP1572962.
JD242766 - Sequence 223790 from Patent EP1572962.
JD407505 - Sequence 388529 from Patent EP1572962.
JD256727 - Sequence 237751 from Patent EP1572962.
JD526242 - Sequence 507266 from Patent EP1572962.
JD352926 - Sequence 333950 from Patent EP1572962.
JD212892 - Sequence 193916 from Patent EP1572962.
JD301197 - Sequence 282221 from Patent EP1572962.
JD348309 - Sequence 329333 from Patent EP1572962.
JD464431 - Sequence 445455 from Patent EP1572962.
JD384230 - Sequence 365254 from Patent EP1572962.
JD535054 - Sequence 516078 from Patent EP1572962.
JD124134 - Sequence 105158 from Patent EP1572962.
JD323876 - Sequence 304900 from Patent EP1572962.
JD541543 - Sequence 522567 from Patent EP1572962.
JD443533 - Sequence 424557 from Patent EP1572962.
JD461700 - Sequence 442724 from Patent EP1572962.
JD233247 - Sequence 214271 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ARHGEF22, DRG, ENST00000328913.1, ENST00000328913.2, ENST00000328913.3, ENST00000328913.4, ENST00000328913.5, ENST00000328913.6, ENST00000328913.7, KIAA0861, MF2L2_HUMAN, NM_015078, O94942, Q6P2B8, Q6ZVJ5, Q86YR7, Q8N318, uc317spr.1, uc317spr.2
UCSC ID: ENST00000328913.8_11
RefSeq Accession: NM_015078.4
Protein: Q86YR7 (aka MF2L2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.