Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RPH3AL (rabphilin 3A like (without C2 domains))

Identity

Alias_symbol (synonym)Noc2
Other aliasNOC2
HGNC (Hugo) RPH3AL
LocusID (NCBI) 9501
Atlas_Id 46051
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 212389 and ends at 352842 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PUM1 (1p35.2) / RPH3AL (17p13.3)RPH3AL (17p13.3) / ESYT2 (7q36.3)RPH3AL (17p13.3) / PAM (5q21.1)
RPH3AL (17p13.3) / TENM1 (Xq25)PUM1 1p35.2 / RPH3AL 17p13.3

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)RPH3AL   10296
Cards
Entrez_Gene (NCBI)RPH3AL  9501  rabphilin 3A like (without C2 domains)
AliasesNOC2
GeneCards (Weizmann)RPH3AL
Ensembl hg19 (Hinxton)ENSG00000181031 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181031 [Gene_View]  chr17:212389-352842 [Contig_View]  RPH3AL [Vega]
ICGC DataPortalENSG00000181031
TCGA cBioPortalRPH3AL
AceView (NCBI)RPH3AL
Genatlas (Paris)RPH3AL
WikiGenes9501
SOURCE (Princeton)RPH3AL
Genetics Home Reference (NIH)RPH3AL
Genomic and cartography
GoldenPath hg38 (UCSC)RPH3AL  -     chr17:212389-352842 -  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPH3AL  -     17p13.3   [Description]    (hg19-Feb_2009)
EnsemblRPH3AL - 17p13.3 [CytoView hg19]  RPH3AL - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIRPH3AL [Mapview hg19]  RPH3AL [Mapview hg38]
OMIM604881   
Gene and transcription
Genbank (Entrez)AF129812 AK000469 AK291950 BC005153 BC093776
RefSeq transcript (Entrez)NM_001190411 NM_001190412 NM_001190413 NM_006987
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_023031 NT_187662 NW_003315952
Consensus coding sequences : CCDS (NCBI)RPH3AL
Cluster EST : UnigeneHs.651925 [ NCBI ]
CGAP (NCI)Hs.651925
Alternative Splicing GalleryENSG00000181031
Gene ExpressionRPH3AL [ NCBI-GEO ]   RPH3AL [ EBI - ARRAY_EXPRESS ]   RPH3AL [ SEEK ]   RPH3AL [ MEM ]
Gene Expression Viewer (FireBrowse)RPH3AL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9501
GTEX Portal (Tissue expression)RPH3AL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UNE2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UNE2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UNE2
Splice isoforms : SwissVarQ9UNE2
PhosPhoSitePlusQ9UNE2
Domaine pattern : Prosite (Expaxy)RABBD (PS50916)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)Rab_BD    Rab_effect_Noc2    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE_2 (PF02318)   
Domain families : Pfam (NCBI)pfam02318   
Conserved Domain (NCBI)RPH3AL
DMDM Disease mutations9501
Blocks (Seattle)RPH3AL
SuperfamilyQ9UNE2
Human Protein AtlasENSG00000181031
Peptide AtlasQ9UNE2
HPRD05345
IPIIPI00012958   IPI00186016   
Protein Interaction databases
DIP (DOE-UCLA)Q9UNE2
IntAct (EBI)Q9UNE2
FunCoupENSG00000181031
BioGRIDRPH3AL
STRING (EMBL)RPH3AL
ZODIACRPH3AL
Ontologies - Pathways
QuickGOQ9UNE2
Ontology : AmiGOcalcium ion binding  protein binding  calcium-dependent phospholipid binding  cytoplasm  plasma membrane  intracellular protein transport  exocytosis  cytoskeletal protein binding  Rab GTPase binding  regulation of calcium ion-dependent exocytosis  secretory granule  LIM domain binding  transport vesicle membrane  secretory granule membrane  response to drug  glucose homeostasis  negative regulation of G-protein coupled receptor protein signaling pathway  positive regulation of protein secretion  
Ontology : EGO-EBIcalcium ion binding  protein binding  calcium-dependent phospholipid binding  cytoplasm  plasma membrane  intracellular protein transport  exocytosis  cytoskeletal protein binding  Rab GTPase binding  regulation of calcium ion-dependent exocytosis  secretory granule  LIM domain binding  transport vesicle membrane  secretory granule membrane  response to drug  glucose homeostasis  negative regulation of G-protein coupled receptor protein signaling pathway  positive regulation of protein secretion  
NDEx NetworkRPH3AL
Atlas of Cancer Signalling NetworkRPH3AL
Wikipedia pathwaysRPH3AL
Orthology - Evolution
OrthoDB9501
GeneTree (enSembl)ENSG00000181031
Phylogenetic Trees/Animal Genes : TreeFamRPH3AL
HOVERGENQ9UNE2
HOGENOMQ9UNE2
Homologs : HomoloGeneRPH3AL
Homology/Alignments : Family Browser (UCSC)RPH3AL
Gene fusions - Rearrangements
Fusion : MitelmanPUM1/RPH3AL [1p35.2/17p13.3]  [t(1;17)(p35;p13)]  
Fusion: TCGAPUM1 1p35.2 RPH3AL 17p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPH3AL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPH3AL
dbVarRPH3AL
ClinVarRPH3AL
1000_GenomesRPH3AL 
Exome Variant ServerRPH3AL
ExAC (Exome Aggregation Consortium)RPH3AL (select the gene name)
Genetic variants : HAPMAP9501
Genomic Variants (DGV)RPH3AL [DGVbeta]
DECIPHERRPH3AL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPH3AL 
Mutations
ICGC Data PortalRPH3AL 
TCGA Data PortalRPH3AL 
Broad Tumor PortalRPH3AL
OASIS PortalRPH3AL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPH3AL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPH3AL
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 RPH3AL
DgiDB (Drug Gene Interaction Database)RPH3AL
DoCM (Curated mutations)RPH3AL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPH3AL (select a term)
intoGenRPH3AL
Cancer3DRPH3AL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604881   
Orphanet
MedgenRPH3AL
Genetic Testing Registry RPH3AL
NextProtQ9UNE2 [Medical]
TSGene9501
GENETestsRPH3AL
Target ValidationRPH3AL
Huge Navigator RPH3AL [HugePedia]
snp3D : Map Gene to Disease9501
BioCentury BCIQRPH3AL
ClinGenRPH3AL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9501
Chemical/Pharm GKB GenePA34658
Clinical trialRPH3AL
Miscellaneous
canSAR (ICR)RPH3AL (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPH3AL
EVEXRPH3AL
GoPubMedRPH3AL
iHOPRPH3AL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:53:45 CEST 2017

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