Atlas of Genetics and Cytogenetics in Oncology and Haematology


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REEP1 (receptor accessory protein 1)

Identity

Alias_namesC2orf23
chromosome 2 open reading frame 23
Alias_symbol (synonym)FLJ13110
SPG31
Yip2a
Other aliasHMN5B
HGNC (Hugo) REEP1
LocusID (NCBI) 65055
Atlas_Id 72568
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 86213997 and ends at 86338083 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
POLR1A (2p11.2) / REEP1 (2p11.2)REEP1 (2p11.2) / STXBP1 (9q34.11)

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)REEP1   25786
LRG (Locus Reference Genomic)LRG_713
Cards
Entrez_Gene (NCBI)REEP1  65055  receptor accessory protein 1
AliasesC2orf23; HMN5B; SPG31; Yip2a
GeneCards (Weizmann)REEP1
Ensembl hg19 (Hinxton)ENSG00000068615 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000068615 [Gene_View]  chr2:86213997-86338083 [Contig_View]  REEP1 [Vega]
ICGC DataPortalENSG00000068615
TCGA cBioPortalREEP1
AceView (NCBI)REEP1
Genatlas (Paris)REEP1
WikiGenes65055
SOURCE (Princeton)REEP1
Genetics Home Reference (NIH)REEP1
Genomic and cartography
GoldenPath hg38 (UCSC)REEP1  -     chr2:86213997-86338083 -  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)REEP1  -     2p11.2   [Description]    (hg19-Feb_2009)
EnsemblREEP1 - 2p11.2 [CytoView hg19]  REEP1 - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBIREEP1 [Mapview hg19]  REEP1 [Mapview hg38]
OMIM609139   610250   614751   
Gene and transcription
Genbank (Entrez)AB073662 AK022775 AK023172 AK294300 AK297201
RefSeq transcript (Entrez)NM_001164730 NM_001164731 NM_001164732 NM_022912
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)REEP1
Cluster EST : UnigeneHs.368884 [ NCBI ]
CGAP (NCI)Hs.368884
Alternative Splicing GalleryENSG00000068615
Gene ExpressionREEP1 [ NCBI-GEO ]   REEP1 [ EBI - ARRAY_EXPRESS ]   REEP1 [ SEEK ]   REEP1 [ MEM ]
Gene Expression Viewer (FireBrowse)REEP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65055
GTEX Portal (Tissue expression)REEP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H902   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H902  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H902
Splice isoforms : SwissVarQ9H902
PhosPhoSitePlusQ9H902
Domains : Interpro (EBI)TB2_DP1_HVA22   
Domain families : Pfam (Sanger)TB2_DP1_HVA22 (PF03134)   
Domain families : Pfam (NCBI)pfam03134   
Conserved Domain (NCBI)REEP1
DMDM Disease mutations65055
Blocks (Seattle)REEP1
SuperfamilyQ9H902
Human Protein AtlasENSG00000068615
Peptide AtlasQ9H902
HPRD07810
IPIIPI00924625   IPI00922152   IPI00944476   IPI00009673   IPI00917387   
Protein Interaction databases
DIP (DOE-UCLA)Q9H902
IntAct (EBI)Q9H902
FunCoupENSG00000068615
BioGRIDREEP1
STRING (EMBL)REEP1
ZODIACREEP1
Ontologies - Pathways
QuickGOQ9H902
Ontology : AmiGOprotein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  microtubule binding  membrane  integral component of membrane  olfactory receptor binding  mitochondrial membrane  regulation of intracellular transport  protein insertion into membrane  endoplasmic reticulum tubular network  endoplasmic reticulum tubular network organization  
Ontology : EGO-EBIprotein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  microtubule binding  membrane  integral component of membrane  olfactory receptor binding  mitochondrial membrane  regulation of intracellular transport  protein insertion into membrane  endoplasmic reticulum tubular network  endoplasmic reticulum tubular network organization  
NDEx NetworkREEP1
Atlas of Cancer Signalling NetworkREEP1
Wikipedia pathwaysREEP1
Orthology - Evolution
OrthoDB65055
GeneTree (enSembl)ENSG00000068615
Phylogenetic Trees/Animal Genes : TreeFamREEP1
HOVERGENQ9H902
HOGENOMQ9H902
Homologs : HomoloGeneREEP1
Homology/Alignments : Family Browser (UCSC)REEP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerREEP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)REEP1
dbVarREEP1
ClinVarREEP1
1000_GenomesREEP1 
Exome Variant ServerREEP1
ExAC (Exome Aggregation Consortium)REEP1 (select the gene name)
Genetic variants : HAPMAP65055
Genomic Variants (DGV)REEP1 [DGVbeta]
DECIPHERREEP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisREEP1 
Mutations
ICGC Data PortalREEP1 
TCGA Data PortalREEP1 
Broad Tumor PortalREEP1
OASIS PortalREEP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICREEP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDREEP1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch REEP1
DgiDB (Drug Gene Interaction Database)REEP1
DoCM (Curated mutations)REEP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)REEP1 (select a term)
intoGenREEP1
Cancer3DREEP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609139    610250    614751   
Orphanet16916    14722   
MedgenREEP1
Genetic Testing Registry REEP1
NextProtQ9H902 [Medical]
TSGene65055
GENETestsREEP1
Target ValidationREEP1
Huge Navigator REEP1 [HugePedia]
snp3D : Map Gene to Disease65055
BioCentury BCIQREEP1
ClinGenREEP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65055
Chemical/Pharm GKB GenePA134906680
Clinical trialREEP1
Miscellaneous
canSAR (ICR)REEP1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineREEP1
EVEXREEP1
GoPubMedREEP1
iHOPREEP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:38:27 CEST 2017

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