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FLASH GENE
Symbol ANXA6 contributors: shn/npt - updated : 04-03-2020
HGNC name annexin A6
HGNC id 544
Location 5q33.1      Physical location : 150.480.267 - 150.537.443
Synonym name
  • lipocortin VI
  • annexin-6
  • calelectrin
  • calphobindin II
  • annexin VI (p68)
  • calcium-binding protein p68
  • chromobindin-20
  • Synonym symbol(s) LPC6, P68CB, ANX6, CBP68, CPB-II, p70
    DNA
    TYPE functioning gene
    STRUCTURE 57.10 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    MAPPING cloned Y linked N status confirmed
    Map cen - D5S640 - D5S470 - ANXA6 - D5S2077 - D5S673 - qter
    Physical map
    PDE6A 5q31.3 phosphodiesterase 6A, cGMP-specific, rod, alpha SLC26A2 5q31.3 solute carrier family 26 (sulfate transporter), member 2 TIGD6 5q32 tigger transposable element derived 6 RPS20P4 5q33-qter ribosomal protein S20 pseudogene 4 CSF1R 5q31.3 colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog RPL7P 5q33.3 ribosomal protein L7 pseudogene PDGFRB 5q31.3 platelet-derived growth factor receptor, beta polypeptide CDX1 5q31.3 caudal type homeo box transcription factor 1 SLC6A7 5q31-q32 solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 CAMK2A 5q33.2 calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha LOC340075 5q33.1 similar to RIKEN cDNA 9330196J05 TCOF1 5q32-q33.1 Treacher Collins-Franceschetti syndrome 1 CD74 5q31.3 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) RPS14 5q32 ribosomal protein S14 NDST1 5q31.3-q32 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 SYNPO 5q33.1 synaptopodin MYOZ3 5q33.1 myozenin 3 FLJ10290 5q33.1 hypothetical protein FLJ10290 DCTN4 5q31-q32 dynactin 4 (p62) NID67 5q33.1 putative small membrane protein NID67 LRG47 5q33.1 LRG-47-like protein ZNF300 21 zinc finger protein 300 GPX3 5q23 glutathione peroxidase 3 (plasma) TNIP1 5q32-q33.1 TNFAIP3 interacting protein 1 ANXA6 5q32 annexin A6 DKFZP434C171 5q33.1 DKFZP434C171 protein GM2A 5q32 GM2 ganglioside activator protein SLC36A3 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 3 SLC36A2 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 2 LOC391840 5 similar to Thyroid hormone receptor-associated protein complex 240 kDa component (Trap240) (Activator-recruited cofactor 250 kDa component) (ARC250) LOC391841 5 similar to hypothetical protein DKFZp761H0421 SLC36A1 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 1 FAT2 5q31-q32 FAT tumor suppressor homolog 2 (Drosophila) SPARC 5q32 secreted protein, acidic, cysteine-rich (osteonectin) ATOX1 5q32-q33 ATX1 antioxidant protein 1 homolog (yeast) LOC389338 5 LOC389338 G3BP 5q33.3 LOC389338 GLRA1 5q32 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) GLULL1 5q33 glutamate-ammonia ligase (glutamine synthase)-like 1
    RNA
    TRANSCRIPTS type messenger
    text transcription start site contains TATAA and CAAT motifs
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 splicing 2889 75.87 673 - 2018 29636414
    25 splicing 2871 75.15 667 - 2018 29636414
  • a 26 exons variant
  • missing exon 21
  • lacking VAAEIL (6 aminos acids) at the start of the seventh repeat of the eight protein repeat motif
  • 25 - 2898 - 641 - 2018 29636414
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveliver     Homo sapiens
    Lymphoid/Immunespleen   highly
     thymus   moderately
    Nervousnerve   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a relatively short N terminus
  • a C terminal "core" region containing four repeats homolog to the endonexin fold
  • contains 8 annexin repeats
  • conjugated PhosphoP , Other
    HOMOLOGY
    interspecies ortholog to anxa6, Danio rerio
    ortholog to ANXA6, Pan troglodytes
    ortholog to Anxa6, Rattus norvegicus
    ortholog to Anxa6, Mus musculus
    Homologene
    FAMILY
  • calcium-dependent membrane and phospholipid binding protein
  • annexin family
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis
  • regulating the release of calcium Ca2+ from intracellular strores
  • a retinoid binding activity
  • putative roles in adhesion-related cellular processes that contribute to breast cancer progression
  • may play a particular role in the organization of lipid microdomains in Niemann-Pick disease
  • in the presence of calcium, ANXA6 re-located to the fractions enriched in detergent-resistant microdomains only in the Niemann-Pick disease cells, suggestive of ANXA6 participation in organization of these microdomains
  • ANXA6 via its stimulatory actions on PRKCA and its role in mediating Ca(2+) flux across membranes regulates terminal differentiation and mineralization events of chondrocytes
  • ANXA6-induced plasma membrane remodelling indicated that elevated ANXA6 expression decreased membrane order through the regulation of cellular cholesterol homeostasis and the actin cytoskeleton
  • ANXA6 protein in adipocytes was upregulated by oxidative stress which might trigger ANXA6 induction in adipose tissues and contribute to impaired fat storage and adiponectin release
  • implicated in many biological processes, including cell proliferation, survival, differentiation, inflammation, but also membrane repair and viral infection
  • novel role for ANXA6 in articular chondrocytes via its modulation of WNT/CTNNB1 and NFKB1 signaling activities and the cross-talk between these two signaling pathways
  • controls cholesterol and membrane transport in endo- and exocytosis, and modulates triglyceride accumulation and storage
  • acts as a scaffolding protein for negative regulators of growth factor receptors and their effector pathways in many different cell types
  • is a novel gatekeeper that controls cellular distribution of late endosome-cholesterol via regulation of a RAB7-GAP and membrane contact sites (MCS) formation
  • stabilize and establish the formation of multifactorial signaling complexes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, other,
  • calcium Ca2+
  • phospholipid
  • vitamin A (all-trans retinol)
  • protein
  • CD21
  • Ras p21 regulatory protein p120GAP
  • Ca(2+)-regulated EF-hand proteins S100A1 and S100B
  • EBV/C3d receptor (CR2)
  • active H-Ras (HRasG12V)
  • ANXA6 inhibits DNM1L activity, and Ca2+-binding to ANXA6 relieves this inhibition to permit DNM1L-mediated mitochondrial fission
  • cooperative mechanism where ANXA6 potentiates NPPA-dependent counterhypertrophic responses in cardiomyocytes by facilitating regulated traffic of pro-NPPA
  • elevated ANXA6 levels cause late endosome (LE) cholesterol accumulation, ANXA6 and blockage of LE cholesterol transport are critical for endosomal function required for STX6-mediated recycling of integrins in cell migration
  • PLA2G4A -dependent pathways contribute to the novel regulatory role of hepatic ANXA6 in lipid droplet (LD) formation
  • ANXA6 acts as a scaffold for RASGRF2 and RAS proteins and its interaction with RASGRF2 is modulated by GTP and/or activation of Ras proteins
  • cell & other
  • cytoskeleton in a calcium-dependent manner
  • interacts with membranes in a Ca2+-dependent manner
  • REGULATION
    induced by EBV
    Other phosphorylated in response to growth factor stimulation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    contributes to breast cancer progression by promoting the loss of functional cell-cell and/or cell-ECM contacts and anchorage-independent cell proliferation
    tumoral     --low  
    is specifically reduced in human hepatocellular carcinoma suggesting a role of this protein in hepatocarcinogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    annexin A6 can be exploited to inhibit chronic mechanical pain
    ANIMAL & CELL MODELS
  • Annexin A6-deficient mice showed increased sensitivity to mechanical stimuli