Human Gene FGD2 (ENST00000274963.13_5) from GENCODE V47lift37
  Description: FYVE, RhoGEF and PH domain containing 2 (from RefSeq NM_173558.4)
Gencode Transcript: ENST00000274963.13_5
Gencode Gene: ENSG00000146192.16_9
Transcript (Including UTRs)
   Position: hg19 chr6:36,973,431-36,996,845 Size: 23,415 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr6:36,973,594-36,995,939 Size: 22,346 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:36,973,431-36,996,845)mRNA (may differ from genome)Protein (655 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGD2_HUMAN
DESCRIPTION: RecName: Full=FYVE, RhoGEF and PH domain-containing protein 2; AltName: Full=Zinc finger FYVE domain-containing protein 4;
FUNCTION: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5- bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4- monophosphate and phosphatidylinositol 3-monophosphate (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable). Cytoplasm (By similarity). Nucleus (By similarity). Early endosome (By similarity). Early endosome membrane (By similarity). Cell projection, ruffle membrane (By similarity). Note=Recruitment to the endosome and ruffle membrane requires the presence of phosphoinositides (By similarity).
DOMAIN: The FYVE-type zinc-finger is necessary for early endosome localization. Recruitment to endosomal membranes via this domain requires the presence of phosphatidylinositol 3-phosphate or other phosphatidylinositides (By similarity).
DOMAIN: The PH domain is necessary for localization to the ruffle membrane. Recruitment to ruffle membrane occurs through binding of phosphoinositides by the PH domain. This domain also contributes to the lipid-binding properties of the protein (By similarity).
DOMAIN: The DH domain is necessary for its ability to activate JNK1 via CDC42 (By similarity).
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 2 PH domains.
SEQUENCE CAUTION: Sequence=BAB15746.1; Type=Erroneous initiation; Sequence=BAC85129.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC85129.1; Type=Frameshift; Positions=460; Sequence=CAI20471.1; 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


-  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: 93.24 RPKM in Spleen
Total median expression: 296.24 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 -52.40163-0.321 Picture PostScript Text
3' UTR -298.60906-0.330 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
IPR000219 - DH-domain
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00169 - PH domain
PF00621 - RhoGEF domain
PF01363 - FYVE zinc finger

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
57889 - Cysteine-rich domain
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q7Z6J4
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:0005515 protein binding
GO:0031267 small GTPase binding
GO:0046872 metal ion binding
GO:1901981 phosphatidylinositol phosphate binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007186 G-protein coupled receptor signaling pathway
GO:0008360 regulation of cell shape
GO:0030036 actin cytoskeleton organization
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0043507 positive regulation of JUN kinase activity
GO:0046847 filopodium assembly
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0031901 early endosome membrane
GO:0032587 ruffle membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC062363 - Homo sapiens FYVE, RhoGEF and PH domain containing 2, mRNA (cDNA clone IMAGE:5440975), with apparent retained intron.
BC023645 - Homo sapiens FYVE, RhoGEF and PH domain containing 2, mRNA (cDNA clone MGC:29450 IMAGE:5087501), complete cds.
GQ900971 - Homo sapiens clone HEL-T-83 epididymis secretory sperm binding protein mRNA, complete cds.
AK290419 - Homo sapiens cDNA FLJ75636 complete cds, highly similar to Homo sapiens FYVE, RhoGEF and PH domain containing 2, mRNA.
AK301156 - Homo sapiens cDNA FLJ61425 complete cds, highly similar to FYVE, RhoGEF and PH domain-containing protein2.
AK300964 - Homo sapiens cDNA FLJ58428 complete cds, highly similar to FYVE, RhoGEF and PH domain-containing protein 2.
AK092732 - Homo sapiens cDNA FLJ35413 fis, clone SMINT2000602, highly similar to Faciogenital dysplasia protein 2.
AX747694 - Sequence 1219 from Patent EP1308459.
AK024456 - Homo sapiens mRNA for FLJ00048 protein, partial cds.
JD039962 - Sequence 20986 from Patent EP1572962.
BC053655 - Homo sapiens FYVE, RhoGEF and PH domain containing 2, mRNA (cDNA clone MGC:61693 IMAGE:5755893), complete cds.
BX648164 - Homo sapiens mRNA; cDNA DKFZp686H1440 (from clone DKFZp686H1440).
JD273509 - Sequence 254533 from Patent EP1572962.
JD447787 - Sequence 428811 from Patent EP1572962.
KJ904034 - Synthetic construct Homo sapiens clone ccsbBroadEn_13428 FGD2 gene, encodes complete protein.
DQ893612 - Synthetic construct clone IMAGE:100006242; FLH182471.01X; RZPDo839G07138D FYVE, RhoGEF and PH domain containing 2 (FGD2) gene, encodes complete protein.
DQ894928 - Synthetic construct Homo sapiens clone IMAGE:100009388; FLH182467.01L; RZPDo839G07137D FYVE, RhoGEF and PH domain containing 2 (FGD2) gene, encodes complete protein.
JD475659 - Sequence 456683 from Patent EP1572962.
AK098248 - Homo sapiens cDNA FLJ40929 fis, clone UTERU2006705.
AK097981 - Homo sapiens cDNA FLJ40662 fis, clone THYMU2020198, highly similar to Mus musculus faciogenital dysplasia protein 2 (Fgd2) mRNA.
AX721073 - Sequence 33 from Patent WO0220754.
AK131079 - Homo sapiens mRNA for FLJ00276 protein.
JD101106 - Sequence 82130 from Patent EP1572962.
JD382059 - Sequence 363083 from Patent EP1572962.
AK097230 - Homo sapiens cDNA FLJ39911 fis, clone SPLEN2018181, highly similar to Mus musculus faciogenital dysplasia protein 2 (Fgd2) mRNA.
JD465242 - Sequence 446266 from Patent EP1572962.
JD150972 - Sequence 131996 from Patent EP1572962.
JD114294 - Sequence 95318 from Patent EP1572962.
JD277533 - Sequence 258557 from Patent EP1572962.
JD060612 - Sequence 41636 from Patent EP1572962.
JD038507 - Sequence 19531 from Patent EP1572962.
JD566064 - Sequence 547088 from Patent EP1572962.
JD239448 - Sequence 220472 from Patent EP1572962.
JD503166 - Sequence 484190 from Patent EP1572962.
JD241062 - Sequence 222086 from Patent EP1572962.
JD428633 - Sequence 409657 from Patent EP1572962.
JD297584 - Sequence 278608 from Patent EP1572962.
JD388877 - Sequence 369901 from Patent EP1572962.
JD212850 - Sequence 193874 from Patent EP1572962.
JD519087 - Sequence 500111 from Patent EP1572962.
JD395811 - Sequence 376835 from Patent EP1572962.
JD295453 - Sequence 276477 from Patent EP1572962.
JD064488 - Sequence 45512 from Patent EP1572962.
JD365144 - Sequence 346168 from Patent EP1572962.
JD108009 - Sequence 89033 from Patent EP1572962.
JD412167 - Sequence 393191 from Patent EP1572962.
JD383735 - Sequence 364759 from Patent EP1572962.
JD511846 - Sequence 492870 from Patent EP1572962.
JD310508 - Sequence 291532 from Patent EP1572962.
JD415388 - Sequence 396412 from Patent EP1572962.
JD505741 - Sequence 486765 from Patent EP1572962.
JD107510 - Sequence 88534 from Patent EP1572962.
JD279657 - Sequence 260681 from Patent EP1572962.

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

Protein Q7Z6J4 (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: ENST00000274963.1, ENST00000274963.10, ENST00000274963.11, ENST00000274963.12, ENST00000274963.2, ENST00000274963.3, ENST00000274963.4, ENST00000274963.5, ENST00000274963.6, ENST00000274963.7, ENST00000274963.8, ENST00000274963.9, FGD2_HUMAN, NM_173558, Q5T8I1, Q6P6A8, Q6ZNL5, Q7Z6J4, Q8IZ32, Q8N868, Q9H7M2, uc317jgw.1, uc317jgw.2, ZFYVE4
UCSC ID: ENST00000274963.13_5
RefSeq Accession: NM_173558.4
Protein: Q7Z6J4 (aka FGD2_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.