Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ANO5 (anoctamin 5)

Identity

Alias_namesTMEM16E
LGMD2L
transmembrane protein 16E
limb girdle muscular dystrophy 2L (autosomal recessive)
Alias_symbol (synonym)GDD1
Other aliasLGMDR12
HGNC (Hugo) ANO5
LocusID (NCBI) 203859
Atlas_Id 57142
Location 11p14.3  [Link to chromosome band 11p14]
Location_base_pair Starts at 22193176 and ends at 22283367 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)
CD247 (1q24.2) / ANO5 (11p14.3)

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)ANO5   27337
LRG (Locus Reference Genomic)LRG_868
Cards
Entrez_Gene (NCBI)ANO5  203859  anoctamin 5
AliasesGDD1; LGMD2L; LGMDR12; TMEM16E
GeneCards (Weizmann)ANO5
Ensembl hg19 (Hinxton)ENSG00000171714 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171714 [Gene_View]  ENSG00000171714 [Sequence]  chr11:22193176-22283367 [Contig_View]  ANO5 [Vega]
ICGC DataPortalENSG00000171714
TCGA cBioPortalANO5
AceView (NCBI)ANO5
Genatlas (Paris)ANO5
WikiGenes203859
SOURCE (Princeton)ANO5
Genetics Home Reference (NIH)ANO5
Genomic and cartography
GoldenPath hg38 (UCSC)ANO5  -     chr11:22193176-22283367 +  11p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANO5  -     11p14.3   [Description]    (hg19-Feb_2009)
GoldenPathANO5 - 11p14.3 [CytoView hg19]  ANO5 - 11p14.3 [CytoView hg38]
ImmunoBaseENSG00000171714
Mapping of homologs : NCBIANO5 [Mapview hg19]  ANO5 [Mapview hg38]
OMIM166260   608662   611307   613319   
Gene and transcription
Genbank (Entrez)AB125267 AK092680 AK125046 AL832374 AL833271
RefSeq transcript (Entrez)NM_001142649 NM_213599
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANO5
Cluster EST : UnigeneHs.154329 [ NCBI ]
CGAP (NCI)Hs.154329
Alternative Splicing GalleryENSG00000171714
Gene ExpressionANO5 [ NCBI-GEO ]   ANO5 [ EBI - ARRAY_EXPRESS ]   ANO5 [ SEEK ]   ANO5 [ MEM ]
Gene Expression Viewer (FireBrowse)ANO5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)203859
GTEX Portal (Tissue expression)ANO5
Human Protein AtlasENSG00000171714-ANO5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ75V66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ75V66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ75V66
Splice isoforms : SwissVarQ75V66
PhosPhoSitePlusQ75V66
Domains : Interpro (EBI)Anoct_dimer    Anoctamin    Anoctamin-5   
Domain families : Pfam (Sanger)Anoct_dimer (PF16178)    Anoctamin (PF04547)   
Domain families : Pfam (NCBI)pfam16178    pfam04547   
Conserved Domain (NCBI)ANO5
DMDM Disease mutations203859
Blocks (Seattle)ANO5
SuperfamilyQ75V66
Human Protein Atlas [tissue]ENSG00000171714-ANO5 [tissue]
Peptide AtlasQ75V66
IPIIPI00412694   IPI00915911   
Protein Interaction databases
DIP (DOE-UCLA)Q75V66
IntAct (EBI)Q75V66
FunCoupENSG00000171714
BioGRIDANO5
STRING (EMBL)ANO5
ZODIACANO5
Ontologies - Pathways
QuickGOQ75V66
Ontology : AmiGOintracellular calcium activated chloride channel activity  intracellular calcium activated chloride channel activity  endoplasmic reticulum membrane  plasma membrane  plasma membrane  chloride transport  integral component of membrane  vesicle  ion transmembrane transport  protein dimerization activity  
Ontology : EGO-EBIintracellular calcium activated chloride channel activity  intracellular calcium activated chloride channel activity  endoplasmic reticulum membrane  plasma membrane  plasma membrane  chloride transport  integral component of membrane  vesicle  ion transmembrane transport  protein dimerization activity  
NDEx NetworkANO5
Atlas of Cancer Signalling NetworkANO5
Wikipedia pathwaysANO5
Orthology - Evolution
OrthoDB203859
GeneTree (enSembl)ENSG00000171714
Phylogenetic Trees/Animal Genes : TreeFamANO5
HOGENOMQ75V66
Homologs : HomoloGeneANO5
Homology/Alignments : Family Browser (UCSC)ANO5
Gene fusions - Rearrangements
Fusion : QuiverANO5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANO5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANO5
dbVarANO5
ClinVarANO5
1000_GenomesANO5 
Exome Variant ServerANO5
ExAC (Exome Aggregation Consortium)ENSG00000171714
GNOMAD BrowserENSG00000171714
Varsome BrowserANO5
Genetic variants : HAPMAP203859
Genomic Variants (DGV)ANO5 [DGVbeta]
DECIPHERANO5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANO5 
Mutations
ICGC Data PortalANO5 
TCGA Data PortalANO5 
Broad Tumor PortalANO5
OASIS PortalANO5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANO5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DANO5
Mutations and Diseases : HGMDANO5
BioMutasearch ANO5
DgiDB (Drug Gene Interaction Database)ANO5
DoCM (Curated mutations)ANO5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANO5 (select a term)
intoGenANO5
Cancer3DANO5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM166260    608662    611307    613319   
Orphanet
DisGeNETANO5
MedgenANO5
Genetic Testing Registry ANO5
NextProtQ75V66 [Medical]
TSGene203859
GENETestsANO5
Target ValidationANO5
Huge Navigator ANO5 [HugePedia]
snp3D : Map Gene to Disease203859
BioCentury BCIQANO5
ClinGenANO5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD203859
Chemical/Pharm GKB GenePA164715641
Clinical trialANO5
Miscellaneous
canSAR (ICR)ANO5 (select the gene name)
DataMed IndexANO5
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANO5
EVEXANO5
GoPubMedANO5
iHOPANO5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:32:18 CET 2019
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