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CHML (CHM like, Rab escort protein 2)

Identity

Alias_nameschoroideremia-like (Rab escort protein 2)
Alias_symbol (synonym)REP-2
Other aliasREP2
HGNC (Hugo) CHML
LocusID (NCBI) 1122
Atlas_Id 61801
Location 1q43  [Link to chromosome band 1q43]
Location_base_pair Starts at 241628865 and ends at 241635930 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)CHML   1941
Cards
Entrez_Gene (NCBI)CHML  1122  CHM like, Rab escort protein 2
AliasesREP2
GeneCards (Weizmann)CHML
Ensembl hg19 (Hinxton)ENSG00000203668 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203668 [Gene_View]  chr1:241628865-241635930 [Contig_View]  CHML [Vega]
ICGC DataPortalENSG00000203668
TCGA cBioPortalCHML
AceView (NCBI)CHML
Genatlas (Paris)CHML
WikiGenes1122
SOURCE (Princeton)CHML
Genetics Home Reference (NIH)CHML
Genomic and cartography
GoldenPath hg38 (UCSC)CHML  -     chr1:241628865-241635930 -  1q43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHML  -     1q43   [Description]    (hg19-Feb_2009)
EnsemblCHML - 1q43 [CytoView hg19]  CHML - 1q43 [CytoView hg38]
Mapping of homologs : NCBICHML [Mapview hg19]  CHML [Mapview hg38]
OMIM118825   
Gene and transcription
Genbank (Entrez)AK000933 AK023423 AK314125 BC117360 BG108374
RefSeq transcript (Entrez)NM_001821
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHML
Cluster EST : UnigeneHs.654545 [ NCBI ]
CGAP (NCI)Hs.654545
Alternative Splicing GalleryENSG00000203668
Gene ExpressionCHML [ NCBI-GEO ]   CHML [ EBI - ARRAY_EXPRESS ]   CHML [ SEEK ]   CHML [ MEM ]
Gene Expression Viewer (FireBrowse)CHML [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1122
GTEX Portal (Tissue expression)CHML
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26374   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26374  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26374
Splice isoforms : SwissVarP26374
PhosPhoSitePlusP26374
Domains : Interpro (EBI)FAD/NAD-binding_dom    GDP_dissociation_inhibitor    Rab_escort   
Domain families : Pfam (Sanger)GDI (PF00996)   
Domain families : Pfam (NCBI)pfam00996   
Conserved Domain (NCBI)CHML
DMDM Disease mutations1122
Blocks (Seattle)CHML
SuperfamilyP26374
Human Protein AtlasENSG00000203668
Peptide AtlasP26374
HPRD00341
IPIIPI00031587   
Protein Interaction databases
DIP (DOE-UCLA)P26374
IntAct (EBI)P26374
FunCoupENSG00000203668
BioGRIDCHML
STRING (EMBL)CHML
ZODIACCHML
Ontologies - Pathways
QuickGOP26374
Ontology : AmiGOGDP-dissociation inhibitor activity  GTPase activator activity  nucleoplasm  cytosol  cytosol  Rab-protein geranylgeranyltransferase complex  intracellular protein transport  small GTPase mediated signal transduction  oxidoreductase activity  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  protein geranylgeranylation  positive regulation of GTPase activity  oxidation-reduction process  membrane organization  
Ontology : EGO-EBIGDP-dissociation inhibitor activity  GTPase activator activity  nucleoplasm  cytosol  cytosol  Rab-protein geranylgeranyltransferase complex  intracellular protein transport  small GTPase mediated signal transduction  oxidoreductase activity  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  protein geranylgeranylation  positive regulation of GTPase activity  oxidation-reduction process  membrane organization  
NDEx NetworkCHML
Atlas of Cancer Signalling NetworkCHML
Wikipedia pathwaysCHML
Orthology - Evolution
OrthoDB1122
GeneTree (enSembl)ENSG00000203668
Phylogenetic Trees/Animal Genes : TreeFamCHML
HOVERGENP26374
HOGENOMP26374
Homologs : HomoloGeneCHML
Homology/Alignments : Family Browser (UCSC)CHML
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHML [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHML
dbVarCHML
ClinVarCHML
1000_GenomesCHML 
Exome Variant ServerCHML
ExAC (Exome Aggregation Consortium)CHML (select the gene name)
Genetic variants : HAPMAP1122
Genomic Variants (DGV)CHML [DGVbeta]
DECIPHERCHML [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHML 
Mutations
ICGC Data PortalCHML 
TCGA Data PortalCHML 
Broad Tumor PortalCHML
OASIS PortalCHML [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHML  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHML
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHML
DgiDB (Drug Gene Interaction Database)CHML
DoCM (Curated mutations)CHML (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHML (select a term)
intoGenCHML
Cancer3DCHML(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118825   
Orphanet
MedgenCHML
Genetic Testing Registry CHML
NextProtP26374 [Medical]
TSGene1122
GENETestsCHML
Target ValidationCHML
Huge Navigator CHML [HugePedia]
snp3D : Map Gene to Disease1122
BioCentury BCIQCHML
ClinGenCHML
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1122
Chemical/Pharm GKB GenePA26472
Clinical trialCHML
Miscellaneous
canSAR (ICR)CHML (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHML
EVEXCHML
GoPubMedCHML
iHOPCHML
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 15:43:35 CEST 2017

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