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UNC50 (unc-50 inner nuclear membrane RNA binding protein)

Identity

Alias_namesunc-50 homolog (C. elegans)
Alias_symbol (synonym)URP
UNCL
GMH1
Other aliasHSD23
PDLs22
HGNC (Hugo) UNC50
LocusID (NCBI) 25972
Atlas_Id 75485
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 98608548 and ends at 98618514 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)
UNC50 (2q11.2) / GRSF1 (4q13.3)UNC50 (2q11.2) / STARD7 (2q11.2)UNC50 (2q11.2) / UBA6 (4q13.2)

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)UNC50   16046
Cards
Entrez_Gene (NCBI)UNC50  25972  unc-50 inner nuclear membrane RNA binding protein
AliasesGMH1; HSD23; PDLs22; UNCL; 
URP
GeneCards (Weizmann)UNC50
Ensembl hg19 (Hinxton)ENSG00000115446 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115446 [Gene_View]  chr2:98608548-98618514 [Contig_View]  UNC50 [Vega]
ICGC DataPortalENSG00000115446
TCGA cBioPortalUNC50
AceView (NCBI)UNC50
Genatlas (Paris)UNC50
WikiGenes25972
SOURCE (Princeton)UNC50
Genetics Home Reference (NIH)UNC50
Genomic and cartography
GoldenPath hg38 (UCSC)UNC50  -     chr2:98608548-98618514 +  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UNC50  -     2q11.2   [Description]    (hg19-Feb_2009)
EnsemblUNC50 - 2q11.2 [CytoView hg19]  UNC50 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBIUNC50 [Mapview hg19]  UNC50 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF077038 AK222599 AL080115 AY017215 AY251534
RefSeq transcript (Entrez)NM_001330353 NM_001330354 NM_014044
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UNC50
Cluster EST : UnigeneHs.13370 [ NCBI ]
CGAP (NCI)Hs.13370
Alternative Splicing GalleryENSG00000115446
Gene ExpressionUNC50 [ NCBI-GEO ]   UNC50 [ EBI - ARRAY_EXPRESS ]   UNC50 [ SEEK ]   UNC50 [ MEM ]
Gene Expression Viewer (FireBrowse)UNC50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25972
GTEX Portal (Tissue expression)UNC50
Human Protein AtlasENSG00000115446-UNC50 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53HI1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53HI1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53HI1
Splice isoforms : SwissVarQ53HI1
PhosPhoSitePlusQ53HI1
Domains : Interpro (EBI)UNC-50   
Domain families : Pfam (Sanger)UNC-50 (PF05216)   
Domain families : Pfam (NCBI)pfam05216   
Conserved Domain (NCBI)UNC50
DMDM Disease mutations25972
Blocks (Seattle)UNC50
SuperfamilyQ53HI1
Human Protein Atlas [tissue]ENSG00000115446-UNC50 [tissue]
Peptide AtlasQ53HI1
HPRD18259
IPIIPI00641805   IPI00916441   IPI00917881   IPI00918008   
Protein Interaction databases
DIP (DOE-UCLA)Q53HI1
IntAct (EBI)Q53HI1
FunCoupENSG00000115446
BioGRIDUNC50
STRING (EMBL)UNC50
ZODIACUNC50
Ontologies - Pathways
QuickGOQ53HI1
Ontology : AmiGORNA binding  nuclear inner membrane  transport  protein transport  integral component of Golgi membrane  
Ontology : EGO-EBIRNA binding  nuclear inner membrane  transport  protein transport  integral component of Golgi membrane  
NDEx NetworkUNC50
Atlas of Cancer Signalling NetworkUNC50
Wikipedia pathwaysUNC50
Orthology - Evolution
OrthoDB25972
GeneTree (enSembl)ENSG00000115446
Phylogenetic Trees/Animal Genes : TreeFamUNC50
HOVERGENQ53HI1
HOGENOMQ53HI1
Homologs : HomoloGeneUNC50
Homology/Alignments : Family Browser (UCSC)UNC50
Gene fusions - Rearrangements
Tumor Fusion PortalUNC50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUNC50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UNC50
dbVarUNC50
ClinVarUNC50
1000_GenomesUNC50 
Exome Variant ServerUNC50
ExAC (Exome Aggregation Consortium)ENSG00000115446
GNOMAD BrowserENSG00000115446
Genetic variants : HAPMAP25972
Genomic Variants (DGV)UNC50 [DGVbeta]
DECIPHERUNC50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUNC50 
Mutations
ICGC Data PortalUNC50 
TCGA Data PortalUNC50 
Broad Tumor PortalUNC50
OASIS PortalUNC50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUNC50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUNC50
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 UNC50
DgiDB (Drug Gene Interaction Database)UNC50
DoCM (Curated mutations)UNC50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UNC50 (select a term)
intoGenUNC50
Cancer3DUNC50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETUNC50
MedgenUNC50
Genetic Testing Registry UNC50
NextProtQ53HI1 [Medical]
TSGene25972
GENETestsUNC50
Target ValidationUNC50
Huge Navigator UNC50 [HugePedia]
snp3D : Map Gene to Disease25972
BioCentury BCIQUNC50
ClinGenUNC50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25972
Chemical/Pharm GKB GenePA134984566
Clinical trialUNC50
Miscellaneous
canSAR (ICR)UNC50 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUNC50
EVEXUNC50
GoPubMedUNC50
iHOPUNC50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:06:47 CET 2017

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