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Aliases for ANXA6 Gene

Aliases for ANXA6 Gene

  • Annexin A6 2 3 5
  • 67 KDa Calelectrin 3 4
  • Chromobindin-20 3 4
  • Lipocortin VI 3 4
  • Annexin-6 3 4
  • CPB-II 3 4
  • ANX6 3 4
  • P68 3 4
  • P70 3 4
  • Testis Secretory Sperm-Binding Protein Li 198a 3
  • Calcium-Binding Protein P68 3
  • Annexin VI (P68) 3
  • Calphobindin II 3
  • Calphobindin-II 4
  • Calelectrin 3
  • Protein III 4
  • Annexin VI 4
  • CBP68 3

External Ids for ANXA6 Gene

Previous HGNC Symbols for ANXA6 Gene

  • ANX6

Previous GeneCards Identifiers for ANXA6 Gene

  • GC05M150549
  • GC05M150463
  • GC05M150509
  • GC05M150460
  • GC05M145626

Summaries for ANXA6 Gene

Entrez Gene Summary for ANXA6 Gene

  • Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

GeneCards Summary for ANXA6 Gene

ANXA6 (Annexin A6) is a Protein Coding gene. Diseases associated with ANXA6 include Neonatal Lupus Erythematosus and Papillary Hidradenoma. Among its related pathways are Prostaglandin Synthesis and Regulation and Smooth Muscle Contraction. GO annotations related to this gene include calcium ion binding and GTP binding. An important paralog of this gene is ANXA11.

UniProtKB/Swiss-Prot for ANXA6 Gene

  • May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.

Gene Wiki entry for ANXA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANXA6 Gene

Genomics for ANXA6 Gene

Regulatory Elements for ANXA6 Gene

Enhancers for ANXA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F151122 1.6 FANTOM5 Ensembl ENCODE 13.9 +33.1 33100 3.9 HDGF PKNOX1 WRNIP1 SIN3A ARID4B YBX1 ZNF2 YY1 GLIS2 GATA2 ANXA6 GPX3 TNIP1 RBM22 CCDC69 DCTN4
GH05F151208 1.5 FANTOM5 ENCODE 14.3 -58.7 -58686 16.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A YY1 ZNF143 ZNF207 FOS GM2A TNIP1 ANXA6 CCDC69 SLC36A1 LINC01933 DCTN4
GH05F151091 1.8 FANTOM5 Ensembl ENCODE 11 +61.0 60965 11.0 HDGF PKNOX1 ARNT WRNIP1 SIN3A YY1 ZNF766 ZNF143 FOS DEK TNIP1 ANXA6 GPX3 RBM22 CCDC69 DCTN4 SLC36A1 SMIM3
GH05F151074 1.6 FANTOM5 ENCODE 11.3 +76.6 76611 13.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS TNIP1 ZNF300P1 ANXA6 LINC01933 RBM22 CCDC69 IRGM CD74 DCTN4 SLC36A1
GH05F151147 1.4 FANTOM5 ENCODE 12.9 +4.4 4420 12.0 PKNOX1 CREB3L1 WRNIP1 ARID4B DMAP1 ZNF2 FOS ZNF263 SP5 NFYC ANXA6 GPX3 TNIP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANXA6 on UCSC Golden Path with GeneCards custom track

Promoters for ANXA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001294076 882 2801 CREB3L1 WRNIP1 ARID4B DMAP1 ZNF2 ZNF263 SP5 NFYC JUNB MXD4

Genomic Location for ANXA6 Gene

Chromosome:
5
Start:
151,100,706 bp from pter
End:
151,157,882 bp from pter
Size:
57,177 bases
Orientation:
Minus strand

Genomic View for ANXA6 Gene

Genes around ANXA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANXA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANXA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANXA6 Gene

Proteins for ANXA6 Gene

  • Protein details for ANXA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08133-ANXA6_HUMAN
    Recommended name:
    Annexin A6
    Protein Accession:
    P08133
    Secondary Accessions:
    • B7Z8A7
    • D3DQH4
    • E9PGK1
    • Q6ZT79

    Protein attributes for ANXA6 Gene

    Size:
    673 amino acids
    Molecular mass:
    75873 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Seems to bind one calcium ion with high affinity.

    Three dimensional structures from OCA and Proteopedia for ANXA6 Gene

    Alternative splice isoforms for ANXA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANXA6 Gene

Post-translational modifications for ANXA6 Gene

  • Phosphorylated in response to growth factor stimulation.
  • Ubiquitination at Lys 9, Lys 68, Lys 81, Lys 102, Lys 135, Lys 240, Lys 377, and Lys 456
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for ANXA6

No data available for DME Specific Peptides for ANXA6 Gene

Domains & Families for ANXA6 Gene

Gene Families for ANXA6 Gene

Protein Domains for ANXA6 Gene

Suggested Antigen Peptide Sequences for ANXA6 Gene

Graphical View of Domain Structure for InterPro Entry

P08133

UniProtKB/Swiss-Prot:

ANXA6_HUMAN :
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
  • Belongs to the annexin family.
  • Contains 8 annexin repeats.
Domain:
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
Family:
  • Belongs to the annexin family.
Similarity:
  • Contains 8 annexin repeats.
genes like me logo Genes that share domains with ANXA6: view

Function for ANXA6 Gene

Molecular function for ANXA6 Gene

GENATLAS Biochemistry:
annexin A6,p68 calcium and phospholipid binding protein
UniProtKB/Swiss-Prot Function:
May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.
UniProtKB/Swiss-Prot Induction:
By Epstein-Barr virus (EBV).

Gene Ontology (GO) - Molecular Function for ANXA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15576473
GO:0005525 GTP binding IMP 16605264
GO:0005544 calcium-dependent phospholipid binding IEA,IDA 2138016
GO:0008289 lipid binding IMP 16605264
genes like me logo Genes that share ontologies with ANXA6: view
genes like me logo Genes that share phenotypes with ANXA6: view

Animal Models for ANXA6 Gene

MGI Knock Outs for ANXA6:

Animal Model Products

miRNA for ANXA6 Gene

miRTarBase miRNAs that target ANXA6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANXA6 Gene

Localization for ANXA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANXA6 Gene

Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANXA6 gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
cytosol 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ANXA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 23360953
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ANXA6: view

Pathways & Interactions for ANXA6 Gene

genes like me logo Genes that share pathways with ANXA6: view

Pathways by source for ANXA6 Gene

Gene Ontology (GO) - Biological Process for ANXA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IEA --
GO:0006937 regulation of muscle contraction IEA --
GO:0034220 ion transmembrane transport IMP 16605264
GO:0051260 protein homooligomerization IMP 16605264
GO:0051560 mitochondrial calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with ANXA6: view

No data available for SIGNOR curated interactions for ANXA6 Gene

Drugs & Compounds for ANXA6 Gene

(12) Drugs for ANXA6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(9) Additional Compounds for ANXA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANXA6: view

Transcripts for ANXA6 Gene

Unigene Clusters for ANXA6 Gene

Annexin A6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANXA6 Gene

No ASD Table

Relevant External Links for ANXA6 Gene

GeneLoc Exon Structure for
ANXA6
ECgene alternative splicing isoforms for
ANXA6

Expression for ANXA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANXA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANXA6 Gene

This gene is overexpressed in Lymph node (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANXA6 Gene



Protein tissue co-expression partners for ANXA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANXA6 Gene:

ANXA6

SOURCE GeneReport for Unigene cluster for ANXA6 Gene:

Hs.412117
genes like me logo Genes that share expression patterns with ANXA6: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANXA6 Gene

Orthologs for ANXA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANXA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANXA6 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia ANXA6 34 35
  • 92.16 (n)
cow
(Bos Taurus)
Mammalia ANXA6 34 35
  • 92.12 (n)
oppossum
(Monodelphis domestica)
Mammalia ANXA6 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Anxa6 34 16 35
  • 89.4 (n)
rat
(Rattus norvegicus)
Mammalia Anxa6 34
  • 89.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANXA6 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANXA6 34 35
  • 77.01 (n)
lizard
(Anolis carolinensis)
Reptilia ANXA6 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anxa6 34
  • 72.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13585 34
zebrafish
(Danio rerio)
Actinopterygii anxa6 34 35
  • 68.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5307 34
African malaria mosquito
(Anopheles gambiae)
Insecta ANXB10B 34
  • 55.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta AnnX 36 34
  • 55.91 (n)
AnnIX 36
  • 48 (a)
Anxb11 36
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea nex-2 36
  • 47 (a)
nex-1 36
  • 40 (a)
nex-3 36
  • 37 (a)
nex-4 36
  • 29 (a)
Species where no ortholog for ANXA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANXA6 Gene

ENSEMBL:
Gene Tree for ANXA6 (if available)
TreeFam:
Gene Tree for ANXA6 (if available)

Paralogs for ANXA6 Gene

Variants for ANXA6 Gene

Sequence variations from dbSNP and Humsavar for ANXA6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10037788 -- 151,104,737(+) AGAAG(G/T)GCAGG intron-variant
rs10037814 -- 151,125,955(+) GTCTC(C/T)GGAAT intron-variant
rs10039049 -- 151,138,338(+) TCCTT(C/T)AAGAT intron-variant
rs10040510 -- 151,140,109(+) TCTAC(A/T)TTTGG intron-variant
rs10045859 -- 151,125,616(+) TTTGA(C/T)GTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANXA6 Gene

Variant ID Type Subtype PubMed ID
nsv950427 CNV duplication 24416366
nsv1128201 CNV deletion 24896259

Variation tolerance for ANXA6 Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANXA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANXA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANXA6 Gene

Disorders for ANXA6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANXA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neonatal lupus erythematosus
  • neonatal systemic lupus erythematosus
papillary hidradenoma
- elite association - COSMIC cancer census association via MalaCards
Search ANXA6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ANXA6

Genetic Association Database (GAD)
ANXA6
Human Genome Epidemiology (HuGE) Navigator
ANXA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANXA6
genes like me logo Genes that share disorders with ANXA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANXA6 Gene

Publications for ANXA6 Gene

  1. The structure of recombinant human annexin VI in crystals and membrane-bound. (PMID: 8709144) Benz J. … Voges D. (J. Mol. Biol. 1996) 3 4 22 64
  2. Structure and properties of calphobindin II, an anticoagulant protein from human placenta. (PMID: 2139657) Yoshizaki H. … Maki M. (J. Biochem. 1990) 3 4 22 64
  3. Primary structure of the human, membrane-associated Ca2+-binding protein p68 a novel member of a protein family. (PMID: 3258820) Crompton M.R. … Crumpton M.J. (EMBO J. 1988) 2 3 4 64
  4. Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts. (PMID: 19900398) Sztolsztener M.E. … Bandorowicz-Pikula J. (Arch. Biochem. Biophys. 2010) 3 22 64
  5. Interaction of annexin A6 with cholesterol rich membranes is pH-dependent and mediated by the sterol OH. (PMID: 20363475) Domon M.M. … Besson F. (J Colloid Interface Sci 2010) 3 22 64

Products for ANXA6 Gene

Sources for ANXA6 Gene

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