Human Gene MCF2L (ENST00000535094.7_11) from GENCODE V47lift37
  Description: MCF.2 cell line derived transforming sequence like, transcript variant 8 (from RefSeq NM_001366646.2)
Gencode Transcript: ENST00000535094.7_11
Gencode Gene: ENSG00000126217.22_19
Transcript (Including UTRs)
   Position: hg19 chr13:113,623,528-113,754,056 Size: 130,529 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr13:113,623,694-113,751,173 Size: 127,480 Coding Exon Count: 30 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:113,623,528-113,754,056)mRNA (may differ from genome)Protein (1125 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCF2L_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide exchange factor DBS; AltName: Full=DBL's big sister; AltName: Full=MCF2-transforming sequence-like protein;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
DOMAIN: The CRAL-TRIO domain is involved in interaction with inositol phospholipids.
DOMAIN: The DH domain is involved in interaction with CCPG1 (By similarity).
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 SH3 domain.
SIMILARITY: Contains 1 spectrin repeat.
SEQUENCE CAUTION: Sequence=BAA20817.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAM24069.3; Type=Erroneous gene model prediction; Sequence=CAM24070.1; Type=Erroneous gene model prediction;

-  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: MCF2L
Diseases sorted by gene-association score: atypical autism (11), osteoarthritis (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 45.06 RPKM in Brain - Cerebellum
Total median expression: 302.88 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 -78.10166-0.470 Picture PostScript Text
3' UTR -985.802883-0.342 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
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR011511 - SH3_2
IPR001452 - SH3_domain
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat

Pfam Domains:
PF00169 - PH domain
PF00435 - Spectrin repeat
PF00621 - RhoGEF domain
PF07653 - Variant SH3 domain
PF13716 - Divergent CRAL/TRIO domain

SCOP Domains:
47874 - Annexin
46966 - Spectrin repeat
48065 - DBL homology domain (DH-domain)
50044 - SH3-domain
50729 - PH domain-like
52087 - CRAL/TRIO domain

ModBase Predicted Comparative 3D Structure on O15068
FrontTopSide
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    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0008289 lipid binding
GO:0035091 phosphatidylinositol binding

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0035023 regulation of Rho protein signal transduction
GO:0035025 positive regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AB002360 - Homo sapiens mRNA for KIAA0362 gene, partial cds.
AB383861 - Synthetic construct DNA, clone: pF1KSDA0362, Homo sapiens MCF2L gene for guanine nucleotide exchange factor DBS, complete cds, without stop codon, in Flexi system.
AK315969 - Homo sapiens cDNA, FLJ78868 partial cds, highly similar to Guanine nucleotide exchange factor DBS.
AK295670 - Homo sapiens cDNA FLJ59537 complete cds, highly similar to Guanine nucleotide exchange factor DBS.
AK307867 - Homo sapiens cDNA, FLJ97815.
AB116074 - Homo sapiens KIAA0362 mRNA for Ost-II, complete cds.
AK295047 - Homo sapiens cDNA FLJ61256 complete cds, highly similar to Guanine nucleotide exchange factor DBS.
BC011853 - Homo sapiens MCF.2 cell line derived transforming sequence-like, mRNA (cDNA clone MGC:19890 IMAGE:4138009), complete cds.
BC020208 - Homo sapiens MCF.2 cell line derived transforming sequence-like, mRNA (cDNA clone MGC:31830 IMAGE:4121441), complete cds.
KJ902314 - Synthetic construct Homo sapiens clone ccsbBroadEn_11708 MCF2L gene, encodes complete protein.
DQ895233 - Synthetic construct Homo sapiens clone IMAGE:100009693; FLH182595.01L; RZPDo839H11137D MCF.2 cell line derived transforming sequence-like (MCF2L) gene, encodes complete protein.
DQ892041 - Synthetic construct clone IMAGE:100004671; FLH182599.01X; RZPDo839H11138D MCF.2 cell line derived transforming sequence-like (MCF2L) gene, encodes complete protein.
BX648279 - Homo sapiens mRNA; cDNA DKFZp686B04125 (from clone DKFZp686B04125).
AK094768 - Homo sapiens cDNA FLJ37449 fis, clone BRAWH2010329, highly similar to GUANINE NUCLEOTIDE EXCHANGE FACTOR DBS.
AB116075 - Homo sapiens KIAA0362 mRNA for Ost-I, complete cds.
BC107066 - Homo sapiens MCF.2 cell line derived transforming sequence-like, mRNA (cDNA clone IMAGE:40007824), partial cds.
AK057899 - Homo sapiens cDNA FLJ25170 fis, clone CBR08752.
AK123267 - Homo sapiens cDNA FLJ41273 fis, clone BRAMY2036567.
BC107067 - Homo sapiens MCF.2 cell line derived transforming sequence-like, mRNA (cDNA clone IMAGE:40007827), partial cds.
AK092739 - Homo sapiens cDNA FLJ35420 fis, clone SMINT2001183.
AX747698 - Sequence 1223 from Patent EP1308459.
JD190218 - Sequence 171242 from Patent EP1572962.
JD395189 - Sequence 376213 from Patent EP1572962.
JD203553 - Sequence 184577 from Patent EP1572962.
JD321777 - Sequence 302801 from Patent EP1572962.
JD390395 - Sequence 371419 from Patent EP1572962.
JD457858 - Sequence 438882 from Patent EP1572962.
JD403571 - Sequence 384595 from Patent EP1572962.
AF086413 - Homo sapiens full length insert cDNA clone ZD77E02.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15068 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: A2A2X1, A2A2X2, A2A3G6, A2A3G8, B4DHD6, B4DIL6, E9PDN8, ENST00000535094.1, ENST00000535094.2, ENST00000535094.3, ENST00000535094.4, ENST00000535094.5, ENST00000535094.6, KIAA0362, MCF2L_HUMAN, NM_001366646, O15068, OST , Q5JU56, Q5VXT1, Q6ZWD4, Q765G8, Q765G9, Q8N679, uc324nqj.1, uc324nqj.2
UCSC ID: ENST00000535094.7_11
RefSeq Accession: NM_001112732.3
Protein: O15068 (aka MCF2L_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.