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ANXA6 (annexin A6)

Identity

Alias_namesANX6
Other aliasCBP68
CPB-II
p68
p70
HGNC (Hugo) ANXA6
LocusID (NCBI) 309
Atlas_Id 50196
Location 5q33.1  [Link to chromosome band 5q33]
Location_base_pair Starts at 151100706 and ends at 151141655 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)
ANXA6 (5q33.1) / ANXA6 (5q33.1)MAFG (17q25.3) / ANXA6 (5q33.1)SLC14A2 (18q12.3) / ANXA6 (5q33.1)

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)ANXA6   544
Cards
Entrez_Gene (NCBI)ANXA6  309  annexin A6
AliasesANX6; CBP68; CPB-II; p68; 
p70
GeneCards (Weizmann)ANXA6
Ensembl hg19 (Hinxton)ENSG00000197043 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197043 [Gene_View]  ENSG00000197043 [Sequence]  chr5:151100706-151141655 [Contig_View]  ANXA6 [Vega]
ICGC DataPortalENSG00000197043
TCGA cBioPortalANXA6
AceView (NCBI)ANXA6
Genatlas (Paris)ANXA6
WikiGenes309
SOURCE (Princeton)ANXA6
Genetics Home Reference (NIH)ANXA6
Genomic and cartography
GoldenPath hg38 (UCSC)ANXA6  -     chr5:151100706-151141655 -  5q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANXA6  -     5q33.1   [Description]    (hg19-Feb_2009)
EnsemblANXA6 - 5q33.1 [CytoView hg19]  ANXA6 - 5q33.1 [CytoView hg38]
Mapping of homologs : NCBIANXA6 [Mapview hg19]  ANXA6 [Mapview hg38]
OMIM114070   
Gene and transcription
Genbank (Entrez)AI566871 AK126836 AK130077 AK290672 AK298582
RefSeq transcript (Entrez)NM_001155 NM_001193544 NM_001363114 NM_004033
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANXA6
Cluster EST : UnigeneHs.412117 [ NCBI ]
CGAP (NCI)Hs.412117
Alternative Splicing GalleryENSG00000197043
Gene ExpressionANXA6 [ NCBI-GEO ]   ANXA6 [ EBI - ARRAY_EXPRESS ]   ANXA6 [ SEEK ]   ANXA6 [ MEM ]
Gene Expression Viewer (FireBrowse)ANXA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)309
GTEX Portal (Tissue expression)ANXA6
Human Protein AtlasENSG00000197043-ANXA6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08133   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08133  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08133
Splice isoforms : SwissVarP08133
PhosPhoSitePlusP08133
Domaine pattern : Prosite (Expaxy)ANNEXIN (PS00223)   
Domains : Interpro (EBI)Annexin    Annexin_repeat    Annexin_repeat_CS    Annexin_sf    ANX6   
Domain families : Pfam (Sanger)Annexin (PF00191)   
Domain families : Pfam (NCBI)pfam00191   
Domain families : Smart (EMBL)ANX (SM00335)  
Conserved Domain (NCBI)ANXA6
DMDM Disease mutations309
Blocks (Seattle)ANXA6
PDB (SRS)1M9I   
PDB (PDBSum)1M9I   
PDB (IMB)1M9I   
PDB (RSDB)1M9I   
Structural Biology KnowledgeBase1M9I   
SCOP (Structural Classification of Proteins)1M9I   
CATH (Classification of proteins structures)1M9I   
SuperfamilyP08133
Human Protein Atlas [tissue]ENSG00000197043-ANXA6 [tissue]
Peptide AtlasP08133
HPRD00231
IPIIPI00221226   IPI00002459   IPI00978313   IPI00975868   IPI01011319   IPI00442825   IPI00974274   IPI00982352   IPI00981703   IPI00982995   IPI00985043   IPI00974094   IPI00979012   
Protein Interaction databases
DIP (DOE-UCLA)P08133
IntAct (EBI)P08133
FunCoupENSG00000197043
BioGRIDANXA6
STRING (EMBL)ANXA6
ZODIACANXA6
Ontologies - Pathways
QuickGOP08133
Ontology : AmiGOneural crest cell migration  phosphatidylserine binding  growth plate cartilage chondrocyte differentiation  calcium channel activity  calcium ion binding  protein binding  GTP binding  GTP binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  mitochondrion  lysosomal membrane  focal adhesion  focal adhesion  regulation of muscle contraction  heparin binding  lipid binding  ligand-gated ion channel activity  ligand-gated ion channel activity  cholesterol binding  cholesterol binding  membrane  enzyme binding  biomineral tissue development  late endosome membrane  ion transmembrane transport  chondroitin sulfate binding  signaling receptor activity  melanosome  protein homodimerization activity  protein homodimerization activity  protein-containing complex binding  calcium-dependent protein binding  calcium-dependent protein binding  perinuclear region of cytoplasm  actin filament binding  protein homooligomerization  protein homooligomerization  negative regulation of sequestering of calcium ion  mitochondrial calcium ion homeostasis  collagen-containing extracellular matrix  extracellular exosome  calcium ion import  calcium ion transmembrane transport  apoptotic signaling pathway  
Ontology : EGO-EBIneural crest cell migration  phosphatidylserine binding  growth plate cartilage chondrocyte differentiation  calcium channel activity  calcium ion binding  protein binding  GTP binding  GTP binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  mitochondrion  lysosomal membrane  focal adhesion  focal adhesion  regulation of muscle contraction  heparin binding  lipid binding  ligand-gated ion channel activity  ligand-gated ion channel activity  cholesterol binding  cholesterol binding  membrane  enzyme binding  biomineral tissue development  late endosome membrane  ion transmembrane transport  chondroitin sulfate binding  signaling receptor activity  melanosome  protein homodimerization activity  protein homodimerization activity  protein-containing complex binding  calcium-dependent protein binding  calcium-dependent protein binding  perinuclear region of cytoplasm  actin filament binding  protein homooligomerization  protein homooligomerization  negative regulation of sequestering of calcium ion  mitochondrial calcium ion homeostasis  collagen-containing extracellular matrix  extracellular exosome  calcium ion import  calcium ion transmembrane transport  apoptotic signaling pathway  
NDEx NetworkANXA6
Atlas of Cancer Signalling NetworkANXA6
Wikipedia pathwaysANXA6
Orthology - Evolution
OrthoDB309
GeneTree (enSembl)ENSG00000197043
Phylogenetic Trees/Animal Genes : TreeFamANXA6
HOVERGENP08133
HOGENOMP08133
Homologs : HomoloGeneANXA6
Homology/Alignments : Family Browser (UCSC)ANXA6
Gene fusions - Rearrangements
Fusion : QuiverANXA6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANXA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANXA6
dbVarANXA6
ClinVarANXA6
1000_GenomesANXA6 
Exome Variant ServerANXA6
ExAC (Exome Aggregation Consortium)ENSG00000197043
GNOMAD BrowserENSG00000197043
Varsome BrowserANXA6
Genetic variants : HAPMAP309
Genomic Variants (DGV)ANXA6 [DGVbeta]
DECIPHERANXA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANXA6 
Mutations
ICGC Data PortalANXA6 
TCGA Data PortalANXA6 
Broad Tumor PortalANXA6
OASIS PortalANXA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANXA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANXA6
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 ANXA6
DgiDB (Drug Gene Interaction Database)ANXA6
DoCM (Curated mutations)ANXA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANXA6 (select a term)
intoGenANXA6
Cancer3DANXA6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114070   
Orphanet
DisGeNETANXA6
MedgenANXA6
Genetic Testing Registry ANXA6
NextProtP08133 [Medical]
TSGene309
GENETestsANXA6
Target ValidationANXA6
Huge Navigator ANXA6 [HugePedia]
snp3D : Map Gene to Disease309
BioCentury BCIQANXA6
ClinGenANXA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD309
Chemical/Pharm GKB GenePA24834
Clinical trialANXA6
Miscellaneous
canSAR (ICR)ANXA6 (select the gene name)
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANXA6
EVEXANXA6
GoPubMedANXA6
iHOPANXA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:51:24 CET 2018

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