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ANXA6 (annexin A6)

Identity

Other namesANX6
CBP68
HGNC (Hugo) ANXA6
LocusID (NCBI) 309
Location 5q33.1
Location_base_pair Starts at 150480267 and ends at 150537443 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)ANXA6
Ensembl hg19 (Hinxton)ENSG00000197043 [Gene_View]  chr5:150480267-150537443 [Contig_View]  ANXA6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197043 [Gene_View]  chr5:150480267-150537443 [Contig_View]  ANXA6 [Vega]
ICGC DataPortalENSG00000197043
cBioPortalANXA6
AceView (NCBI)ANXA6
Genatlas (Paris)ANXA6
WikiGenes309
SOURCE (Princeton)ANXA6
Genomic and cartography
GoldenPath hg19 (UCSC)ANXA6  -     chr5:150480267-150537443 -  5q33.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ANXA6  -     5q33.1   [Description]    (hg38-Dec_2013)
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_004033
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NT_029289 NW_001838953 NW_004929324
Consensus coding sequences : CCDS (NCBI)ANXA6
Cluster EST : UnigeneHs.412117 [ NCBI ]
CGAP (NCI)Hs.412117
Alternative Splicing : Fast-db (Paris)GSHG0025186
Alternative Splicing GalleryENSG00000197043
Gene ExpressionANXA6 [ NCBI-GEO ]     ANXA6 [ SEEK ]   ANXA6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08133 (Uniprot)
NextProtP08133  [Medical]
With graphics : InterProP08133
Splice isoforms : SwissVarP08133 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANNEXIN (PS00223)   
Domains : Interpro (EBI)Annexin    Annexin_repeat    Annexin_repeat_CS    AnnexinVI   
Related proteins : CluSTrP08133
Domain families : Pfam (Sanger)Annexin (PF00191)   
Domain families : Pfam (NCBI)pfam00191   
Domain families : Smart (EMBL)ANX (SM00335)  
DMDM Disease mutations309
Blocks (Seattle)P08133
PDB (SRS)1M9I   
PDB (PDBSum)1M9I   
PDB (IMB)1M9I   
PDB (RSDB)1M9I   
Human Protein AtlasENSG00000197043
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
IntegromeDBANXA6
STRING (EMBL)ANXA6
Ontologies - Pathways
QuickGOP08133
Ontology : AmiGOcalcium ion binding  protein binding  GTP binding  calcium-dependent phospholipid binding  lysosomal membrane  calcium ion transport  regulation of muscle contraction  lipid binding  ligand-gated ion channel activity  cholesterol binding  membrane  late endosome membrane  ion transmembrane transport  melanosome  protein homodimerization activity  calcium-dependent protein binding  perinuclear region of cytoplasm  protein homooligomerization  extracellular vesicular exosome  
Ontology : EGO-EBIcalcium ion binding  protein binding  GTP binding  calcium-dependent phospholipid binding  lysosomal membrane  calcium ion transport  regulation of muscle contraction  lipid binding  ligand-gated ion channel activity  cholesterol binding  membrane  late endosome membrane  ion transmembrane transport  melanosome  protein homodimerization activity  calcium-dependent protein binding  perinuclear region of cytoplasm  protein homooligomerization  extracellular vesicular exosome  
Protein Interaction DatabaseANXA6
DoCM (Curated mutations)ANXA6
Wikipedia pathwaysANXA6
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerANXA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANXA6
dbVarANXA6
ClinVarANXA6
1000_GenomesANXA6 
Exome Variant ServerANXA6
SNP (GeneSNP Utah)ANXA6
SNP : HGBaseANXA6
Genetic variants : HAPMAPANXA6
Genomic VariantsANXA6  ANXA6 [DGVbeta]
Mutations
ICGC Data PortalENSG00000197043 
Somatic Mutations in Cancer : COSMICANXA6 
CONAN: Copy Number AnalysisANXA6 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:150480267-150537443
Mutations and Diseases : HGMDANXA6
OMIM114070   
MedgenANXA6
NextProtP08133 [Medical]
GENETestsANXA6
Disease Genetic AssociationANXA6
Huge Navigator ANXA6 [HugePedia]  ANXA6 [HugeCancerGEM]
snp3D : Map Gene to Disease309
DGIdb (Drug Gene Interaction db)ANXA6
General knowledge
Homologs : HomoloGeneANXA6
Homology/Alignments : Family Browser (UCSC)ANXA6
Phylogenetic Trees/Animal Genes : TreeFamANXA6
Chemical/Protein Interactions : CTD309
Chemical/Pharm GKB GenePA24834
Clinical trialANXA6
Cancer Resource (Charite)ENSG00000197043
Other databases
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
CoreMineANXA6
GoPubMedANXA6
iHOPANXA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:09:24 CET 2014

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