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FGD4 (FYVE, RhoGEF and PH domain containing 4)

Identity

Other namesCMT4H
FRABP
ZFYVE6
HGNC (Hugo) FGD4
LocusID (NCBI) 121512
Atlas_Id 43262
Location 12p11.21
Location_base_pair Starts at 32687227 and ends at 32798984 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DDX6 (11q23.3) / FGD4 (12p11.21)EFNA5 (5q21.3) / FGD4 (12p11.21)FGD4 (12p11.21) / ABCC9 (12p12.1)
FGD4 (12p11.21) / LRRK2 (12q12)FGD4 (12p11.21) / TTC39B (9p22.3)FGD4 (12p11.21) / VPS13D (1p36.22)
FGD4 (12p11.21) / YEATS2 (3q27.1)NPC1 (18q11.2) / FGD4 (12p11.21)PRICKLE1 (12q12) / FGD4 (12p11.21)
FGD4 12p11.21 / ABCC9 12p12.1FGD4 12p11.21 / LRRK2 12q12NPC1 18q11.2 / FGD4 12p11.21
PRICKLE1 12q12 / FGD4 12p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FGD4   19125
Cards
Entrez_Gene (NCBI)FGD4  121512  FYVE, RhoGEF and PH domain containing 4
AliasesCMT4H; FRABP; ZFYVE6
GeneCards (Weizmann)FGD4
Ensembl hg19 (Hinxton)ENSG00000139132 [Gene_View]  chr12:32687227-32798984 [Contig_View]  FGD4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139132 [Gene_View]  chr12:32687227-32798984 [Contig_View]  FGD4 [Vega]
ICGC DataPortalENSG00000139132
TCGA cBioPortalFGD4
AceView (NCBI)FGD4
Genatlas (Paris)FGD4
WikiGenes121512
SOURCE (Princeton)FGD4
Genomic and cartography
GoldenPath hg19 (UCSC)FGD4  -     chr12:32687227-32798984 +  12p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FGD4  -     12p11.21   [Description]    (hg38-Dec_2013)
EnsemblFGD4 - 12p11.21 [CytoView hg19]  FGD4 - 12p11.21 [CytoView hg38]
Mapping of homologs : NCBIFGD4 [Mapview hg19]  FGD4 [Mapview hg38]
OMIM609311   611104   
Gene and transcription
Genbank (Entrez)AK057294 AK091689 AK124654 AK297025 AK303334
RefSeq transcript (Entrez)NM_001304480 NM_001304481 NM_001304483 NM_001304484 NM_139241
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008626 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)FGD4
Cluster EST : UnigeneHs.117835 [ NCBI ]
CGAP (NCI)Hs.117835
Alternative Splicing GalleryENSG00000139132
Gene ExpressionFGD4 [ NCBI-GEO ]   FGD4 [ EBI - ARRAY_EXPRESS ]   FGD4 [ SEEK ]   FGD4 [ MEM ]
Gene Expression Viewer (FireBrowse)FGD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)121512
GTEX Portal (Tissue expression)FGD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96M96 (Uniprot)
NextProtQ96M96  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96M96
Splice isoforms : SwissVarQ96M96 (Swissvar)
PhosPhoSitePlusQ96M96
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain    Znf_FYVE    Znf_FYVE-rel    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    PH (PF00169)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam01363    pfam00169    pfam00621   
Domain families : Smart (EMBL)FYVE (SM00064)  PH (SM00233)  RhoGEF (SM00325)  
DMDM Disease mutations121512
Blocks (Seattle)FGD4
SuperfamilyQ96M96
Human Protein AtlasENSG00000139132
Peptide AtlasQ96M96
HPRD16891
IPIIPI00065435   IPI00940940   IPI00429579   IPI01009704   IPI01022292   IPI01021852   IPI01022310   IPI00554726   IPI00983851   IPI00980854   IPI00980605   IPI00982642   
Protein Interaction databases
DIP (DOE-UCLA)Q96M96
IntAct (EBI)Q96M96
FunCoupENSG00000139132
BioGRIDFGD4
STRING (EMBL)FGD4
ZODIACFGD4
Ontologies - Pathways
QuickGOQ96M96
Ontology : AmiGOruffle  actin binding  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytoplasm  Golgi apparatus  cytosol  cytoskeleton organization  regulation of cell shape  actin cytoskeleton  lamellipodium  actin cytoskeleton organization  filopodium  small GTPase binding  regulation of Rho protein signal transduction  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  filopodium assembly  metal ion binding  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIruffle  actin binding  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytoplasm  Golgi apparatus  cytosol  cytoskeleton organization  regulation of cell shape  actin cytoskeleton  lamellipodium  actin cytoskeleton organization  filopodium  small GTPase binding  regulation of Rho protein signal transduction  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  filopodium assembly  metal ion binding  regulation of small GTPase mediated signal transduction  
NDEx Network
Atlas of Cancer Signalling NetworkFGD4
Wikipedia pathwaysFGD4
Orthology - Evolution
OrthoDB121512
GeneTree (enSembl)ENSG00000139132
Phylogenetic Trees/Animal Genes : TreeFamFGD4
Homologs : HomoloGeneFGD4
Homology/Alignments : Family Browser (UCSC)FGD4
Gene fusions - Rearrangements
Fusion: TCGAFGD4 12p11.21 ABCC9 12p12.1 BRCA
Fusion: TCGAFGD4 12p11.21 LRRK2 12q12 GBM
Fusion: TCGANPC1 18q11.2 FGD4 12p11.21 LUAD
Fusion: TCGAPRICKLE1 12q12 FGD4 12p11.21 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerFGD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FGD4
dbVarFGD4
ClinVarFGD4
1000_GenomesFGD4 
Exome Variant ServerFGD4
ExAC (Exome Aggregation Consortium)FGD4 (select the gene name)
Genetic variants : HAPMAP121512
Genomic Variants (DGV)FGD4 [DGVbeta]
Mutations
ICGC Data PortalFGD4 
TCGA Data PortalFGD4 
Broad Tumor PortalFGD4
OASIS PortalFGD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFGD4 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FGD4
DgiDB (Drug Gene Interaction Database)FGD4
DoCM (Curated mutations)FGD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FGD4 (select a term)
intoGenFGD4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:32687227-32798984  ENSG00000139132
CONAN: Copy Number AnalysisFGD4 
Mutations and Diseases : HGMDFGD4
OMIM609311    611104   
MedgenFGD4
Genetic Testing Registry FGD4
NextProtQ96M96 [Medical]
TSGene121512
GENETestsFGD4
Huge Navigator FGD4 [HugePedia]
snp3D : Map Gene to Disease121512
BioCentury BCIQFGD4
ClinGenFGD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD121512
Chemical/Pharm GKB GenePA134907925
Clinical trialFGD4
Miscellaneous
canSAR (ICR)FGD4 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFGD4
EVEXFGD4
GoPubMedFGD4
iHOPFGD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:02:45 CEST 2016

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