Atlas of Genetics and Cytogenetics in Oncology and Haematology


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FRMPD2 (FERM and PDZ domain containing 2)

Identity

Alias_namesPDZD5C
PDZK5C
PDZ domain containing 5C
Alias_symbol (synonym)MGC35285
Other aliasPDZK4
HGNC (Hugo) FRMPD2
LocusID (NCBI) 143162
Atlas_Id 63599
Location 10q11.22  [Link to chromosome band 10q11]
Location_base_pair Starts at 48156559 and ends at 48274898 bp from pter ( according to hg38-Dec_2013)

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)FRMPD2   28572
Cards
Entrez_Gene (NCBI)FRMPD2  143162  FERM and PDZ domain containing 2
AliasesPDZD5C; PDZK4; PDZK5C
GeneCards (Weizmann)FRMPD2
Ensembl hg19 (Hinxton)ENSG00000170324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170324 [Gene_View]  chr10:48156559-48274898 [Contig_View]  FRMPD2 [Vega]
ICGC DataPortalENSG00000170324
TCGA cBioPortalFRMPD2
AceView (NCBI)FRMPD2
Genatlas (Paris)FRMPD2
WikiGenes143162
SOURCE (Princeton)FRMPD2
Genetics Home Reference (NIH)FRMPD2
Genomic and cartography
GoldenPath hg38 (UCSC)FRMPD2  -     chr10:48156559-48274898 -  10q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRMPD2  -     10q11.22   [Description]    (hg19-Feb_2009)
EnsemblFRMPD2 - 10q11.22 [CytoView hg19]  FRMPD2 - 10q11.22 [CytoView hg38]
Mapping of homologs : NCBIFRMPD2 [Mapview hg19]  FRMPD2 [Mapview hg38]
OMIM613323   
Gene and transcription
Genbank (Entrez)AK123038 AK131386 AK303923 AY491519 BC031614
RefSeq transcript (Entrez)NM_001017929 NM_001018071 NM_001042512 NM_001318191 NM_152428
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRMPD2
Cluster EST : UnigeneHs.709611 [ NCBI ]
CGAP (NCI)Hs.709611
Alternative Splicing GalleryENSG00000170324
Gene ExpressionFRMPD2 [ NCBI-GEO ]   FRMPD2 [ EBI - ARRAY_EXPRESS ]   FRMPD2 [ SEEK ]   FRMPD2 [ MEM ]
Gene Expression Viewer (FireBrowse)FRMPD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)143162
GTEX Portal (Tissue expression)FRMPD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ68DX3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ68DX3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ68DX3
Splice isoforms : SwissVarQ68DX3
PhosPhoSitePlusQ68DX3
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    KIND (PS51377)    PDZ (PS50106)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    FERM_N    FERM_PH-like_C    FRMPD2    KIND_dom    PDZ    PH_dom-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam09380    pfam00373    pfam09379    pfam00595   
Domain families : Smart (EMBL)B41 (SM00295)  FERM_C (SM01196)  KIND (SM00750)  PDZ (SM00228)  
Conserved Domain (NCBI)FRMPD2
DMDM Disease mutations143162
Blocks (Seattle)FRMPD2
SuperfamilyQ68DX3
Human Protein AtlasENSG00000170324
Peptide AtlasQ68DX3
HPRD17019
IPIIPI00783413   IPI00604498   IPI00867584   IPI00939368   IPI00604685   
Protein Interaction databases
DIP (DOE-UCLA)Q68DX3
IntAct (EBI)Q68DX3
FunCoupENSG00000170324
BioGRIDFRMPD2
STRING (EMBL)FRMPD2
ZODIACFRMPD2
Ontologies - Pathways
QuickGOQ68DX3
Ontology : AmiGOprotein binding  1-phosphatidylinositol binding  cytoplasm  cytoskeleton  bicellular tight junction  basolateral plasma membrane  bicellular tight junction assembly  
Ontology : EGO-EBIprotein binding  1-phosphatidylinositol binding  cytoplasm  cytoskeleton  bicellular tight junction  basolateral plasma membrane  bicellular tight junction assembly  
NDEx NetworkFRMPD2
Atlas of Cancer Signalling NetworkFRMPD2
Wikipedia pathwaysFRMPD2
Orthology - Evolution
OrthoDB143162
GeneTree (enSembl)ENSG00000170324
Phylogenetic Trees/Animal Genes : TreeFamFRMPD2
HOVERGENQ68DX3
HOGENOMQ68DX3
Homologs : HomoloGeneFRMPD2
Homology/Alignments : Family Browser (UCSC)FRMPD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMPD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRMPD2
dbVarFRMPD2
ClinVarFRMPD2
1000_GenomesFRMPD2 
Exome Variant ServerFRMPD2
ExAC (Exome Aggregation Consortium)FRMPD2 (select the gene name)
Genetic variants : HAPMAP143162
Genomic Variants (DGV)FRMPD2 [DGVbeta]
DECIPHERFRMPD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRMPD2 
Mutations
ICGC Data PortalFRMPD2 
TCGA Data PortalFRMPD2 
Broad Tumor PortalFRMPD2
OASIS PortalFRMPD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRMPD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRMPD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FRMPD2
DgiDB (Drug Gene Interaction Database)FRMPD2
DoCM (Curated mutations)FRMPD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRMPD2 (select a term)
intoGenFRMPD2
Cancer3DFRMPD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613323   
Orphanet
MedgenFRMPD2
Genetic Testing Registry FRMPD2
NextProtQ68DX3 [Medical]
TSGene143162
GENETestsFRMPD2
Target ValidationFRMPD2
Huge Navigator FRMPD2 [HugePedia]
snp3D : Map Gene to Disease143162
BioCentury BCIQFRMPD2
ClinGenFRMPD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD143162
Chemical/Pharm GKB GenePA134947461
Clinical trialFRMPD2
Miscellaneous
canSAR (ICR)FRMPD2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRMPD2
EVEXFRMPD2
GoPubMedFRMPD2
iHOPFRMPD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:49:56 CEST 2017

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