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CLTRN (collectrin, amino acid transport regulator)

Identity

Other aliasNX-17
NX17
TMEM27
HGNC (Hugo) CLTRN
LocusID (NCBI) 57393
Atlas_Id 57309
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 15627316 and ends at 15665031 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


External links

Nomenclature
HGNC (Hugo)CLTRN   29437
Cards
Entrez_Gene (NCBI)CLTRN  57393  collectrin, amino acid transport regulator
AliasesNX-17; NX17; TMEM27
GeneCards (Weizmann)CLTRN
Ensembl hg19 (Hinxton)ENSG00000147003 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147003 [Gene_View]  ENSG00000147003 [Sequence]  chrX:15627316-15665031 [Contig_View]  CLTRN [Vega]
ICGC DataPortalENSG00000147003
TCGA cBioPortalCLTRN
AceView (NCBI)CLTRN
Genatlas (Paris)CLTRN
WikiGenes57393
SOURCE (Princeton)CLTRN
Genetics Home Reference (NIH)CLTRN
Genomic and cartography
GoldenPath hg38 (UCSC)CLTRN  -     chrX:15627316-15665031 -  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLTRN  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblCLTRN - Xp22.2 [CytoView hg19]  CLTRN - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBICLTRN [Mapview hg19]  CLTRN [Mapview hg38]
OMIM300631   
Gene and transcription
Genbank (Entrez)AF229179 AI470468 AK313835 AY359060 BC014317
RefSeq transcript (Entrez)NM_020665
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLTRN
Cluster EST : UnigeneHs.129614 [ NCBI ]
CGAP (NCI)Hs.129614
Alternative Splicing GalleryENSG00000147003
Gene ExpressionCLTRN [ NCBI-GEO ]   CLTRN [ EBI - ARRAY_EXPRESS ]   CLTRN [ SEEK ]   CLTRN [ MEM ]
Gene Expression Viewer (FireBrowse)CLTRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57393
GTEX Portal (Tissue expression)CLTRN
Human Protein AtlasENSG00000147003-CLTRN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBJ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBJ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBJ8
Splice isoforms : SwissVarQ9HBJ8
PhosPhoSitePlusQ9HBJ8
Domains : Interpro (EBI)Collectrin_dom    Peptidase_M2   
Domain families : Pfam (Sanger)Collectrin (PF16959)   
Domain families : Pfam (NCBI)pfam16959   
Conserved Domain (NCBI)CLTRN
DMDM Disease mutations57393
Blocks (Seattle)CLTRN
SuperfamilyQ9HBJ8
Human Protein Atlas [tissue]ENSG00000147003-CLTRN [tissue]
Peptide AtlasQ9HBJ8
IPIIPI00010191   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBJ8
IntAct (EBI)Q9HBJ8
FunCoupENSG00000147003
BioGRIDCLTRN
STRING (EMBL)CLTRN
ZODIACCLTRN
Ontologies - Pathways
QuickGOQ9HBJ8
Ontology : AmiGOprotein binding  cytoplasm  plasma membrane  proteolysis  metallopeptidase activity  peptidyl-dipeptidase activity  integral component of membrane  positive regulation of SNARE complex assembly  positive regulation of insulin secretion involved in cellular response to glucose stimulus  protein homodimerization activity  positive regulation of calcium ion-dependent exocytosis  extracellular exosome  
Ontology : EGO-EBIprotein binding  cytoplasm  plasma membrane  proteolysis  metallopeptidase activity  peptidyl-dipeptidase activity  integral component of membrane  positive regulation of SNARE complex assembly  positive regulation of insulin secretion involved in cellular response to glucose stimulus  protein homodimerization activity  positive regulation of calcium ion-dependent exocytosis  extracellular exosome  
NDEx NetworkCLTRN
Atlas of Cancer Signalling NetworkCLTRN
Wikipedia pathwaysCLTRN
Orthology - Evolution
OrthoDB57393
GeneTree (enSembl)ENSG00000147003
Phylogenetic Trees/Animal Genes : TreeFamCLTRN
HOVERGENQ9HBJ8
HOGENOMQ9HBJ8
Homologs : HomoloGeneCLTRN
Homology/Alignments : Family Browser (UCSC)CLTRN
Gene fusions - Rearrangements
Fusion : QuiverCLTRN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLTRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLTRN
dbVarCLTRN
ClinVarCLTRN
1000_GenomesCLTRN 
Exome Variant ServerCLTRN
ExAC (Exome Aggregation Consortium)ENSG00000147003
GNOMAD BrowserENSG00000147003
Varsome BrowserCLTRN
Genetic variants : HAPMAP57393
Genomic Variants (DGV)CLTRN [DGVbeta]
DECIPHERCLTRN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLTRN 
Mutations
ICGC Data PortalCLTRN 
TCGA Data PortalCLTRN 
Broad Tumor PortalCLTRN
OASIS PortalCLTRN [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCLTRN
BioMutasearch CLTRN
DgiDB (Drug Gene Interaction Database)CLTRN
DoCM (Curated mutations)CLTRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLTRN (select a term)
intoGenCLTRN
Cancer3DCLTRN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300631   
Orphanet
DisGeNETCLTRN
MedgenCLTRN
Genetic Testing Registry CLTRN
NextProtQ9HBJ8 [Medical]
TSGene57393
GENETestsCLTRN
Target ValidationCLTRN
Huge Navigator CLTRN [HugePedia]
snp3D : Map Gene to Disease57393
BioCentury BCIQCLTRN
ClinGenCLTRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57393
Chemical/Pharm GKB GenePA134994199
Clinical trialCLTRN
Miscellaneous
canSAR (ICR)CLTRN (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLTRN
EVEXCLTRN
GoPubMedCLTRN
iHOPCLTRN
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 6 10:58:58 CET 2018

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