Atlas of Genetics and Cytogenetics in Oncology and Haematology


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FRMPD2 (FERM and PDZ domain containing 2)

Identity

Alias (NCBI)PDZD5C
PDZK4
PDZK5C
HGNC (Hugo) FRMPD2
HGNC Alias symbMGC35285
HGNC Previous namePDZD5C
 PDZK5C
HGNC Previous namePDZ domain containing 5C
LocusID (NCBI) 143162
Atlas_Id 63599
Location 10q11.22  [Link to chromosome band 10q11]
Location_base_pair Starts at 48156559 and ends at 48251757 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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    FERM and PDZ domain containing 2
AliasesPDZD5C; PDZK4; PDZK5C
GeneCards (Weizmann)FRMPD2
Ensembl hg19 (Hinxton)ENSG00000170324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170324 [Gene_View]  ENSG00000170324 [Sequence]  chr10:48156559-48251757 [Contig_View]  FRMPD2 [Vega]
ICGC DataPortalENSG00000170324
TCGA cBioPortalFRMPD2
AceView (NCBI)FRMPD2
Genatlas (Paris)FRMPD2
SOURCE (Princeton)FRMPD2
Genetics Home Reference (NIH)FRMPD2
Genomic and cartography
GoldenPath hg38 (UCSC)FRMPD2  -     chr10:48156559-48251757 -  10q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRMPD2  -     10q11.22   [Description]    (hg19-Feb_2009)
GoldenPathFRMPD2 - 10q11.22 [CytoView hg19]  FRMPD2 - 10q11.22 [CytoView hg38]
ImmunoBaseENSG00000170324
Genome Data Viewer NCBIFRMPD2 [Mapview hg19]  
OMIM613323   
Gene and transcription
Genbank (Entrez)AK123038 AK131386 AK303923 AY491519 BC031614
RefSeq transcript (Entrez)NM_001017929 NM_001018071 NM_001042512 NM_001318191 NM_152428
Consensus coding sequences : CCDS (NCBI)FRMPD2
Gene ExpressionFRMPD2 [ NCBI-GEO ]   FRMPD2 [ EBI - ARRAY_EXPRESS ]   FRMPD2 [ SEEK ]   FRMPD2 [ MEM ]
Gene Expression Viewer (FireBrowse)FRMPD2 [ Firebrowse - Broad ]
GenevisibleExpression of FRMPD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)143162
GTEX Portal (Tissue expression)FRMPD2
Human Protein AtlasENSG00000170324-FRMPD2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ68DX3
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    KIND (PS51377)    PDZ (PS50106)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_sf    FERM_2    FERM_central    FERM_domain    FERM_N    FERM_PH-like_C    FRMPD2    KIND_dom    PDZ    PDZ_sf    PH-like_dom_sf    Ubiquitin-like_domsf   
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
SuperfamilyQ68DX3
AlphaFold pdb e-kbQ68DX3   
Human Protein Atlas [tissue]ENSG00000170324-FRMPD2 [tissue]
HPRD17019
Protein Interaction databases
DIP (DOE-UCLA)Q68DX3
IntAct (EBI)Q68DX3
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
Homologs : HomoloGeneFRMPD2
Homology/Alignments : Family Browser (UCSC)FRMPD2
Gene fusions - Rearrangements
Fusion : QuiverFRMPD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMPD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRMPD2
dbVarFRMPD2
ClinVarFRMPD2
MonarchFRMPD2
1000_GenomesFRMPD2 
Exome Variant ServerFRMPD2
GNOMAD BrowserENSG00000170324
Varsome BrowserFRMPD2
ACMGFRMPD2 variants
VarityQ68DX3
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]  
Somatic Mutations in Cancer : COSMIC3DFRMPD2
Mutations and Diseases : HGMDFRMPD2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFRMPD2
DgiDB (Drug Gene Interaction Database)FRMPD2
DoCM (Curated mutations)FRMPD2
CIViC (Clinical Interpretations of Variants in Cancer)FRMPD2
Cancer3DFRMPD2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613323   
Orphanet
DisGeNETFRMPD2
MedgenFRMPD2
Genetic Testing Registry FRMPD2
NextProtQ68DX3 [Medical]
GENETestsFRMPD2
Target ValidationFRMPD2
Huge Navigator FRMPD2 [HugePedia]
ClinGenFRMPD2
Clinical trials, drugs, therapy
MyCancerGenomeFRMPD2
Protein Interactions : CTDFRMPD2
Pharm GKB GenePA134947461
PharosQ68DX3
Clinical trialFRMPD2
Miscellaneous
canSAR (ICR)FRMPD2
HarmonizomeFRMPD2
DataMed IndexFRMPD2
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFRMPD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:50:55 CEST 2021

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