• Gene id: 309

Gene Summary

• Gene Symbol: ANXA6   Gene   UCSC   Ensembl
• Aliases: ANX6, CBP68
• Gene name: annexin A6
• Alternate names: annexin A6, 67 kDa calelectrin, CPB-II, annexin VI (p68), annexin-6, calcium-binding protein p68, calelectrin, calphobindin II, chromobindin-20, lipocortin VI, p68, p70, testis secretory sperm-binding protein Li 198a,
• Gene location: 5q33.1 (151157881: 151100705)     Exons: 27     NC_000005.10
• Gene summary(Entrez): 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 approxi
• OMIM: 114070

SNPs

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs16927997

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125236118A>G
NC_000009.11   g.127998397A>G
NG_027761.1   g.10270T>C
NM_005347.5   c.*474T>C
NM_005347.4   c.*474T>C|SEQ=[A/G]|GENE=HSPA5

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

Protein Summary

• Protein general information: P08133  
  • Name: Annexin A6 (67 kDa calelectrin) (Annexin VI) (Annexin 6) (Calphobindin II) (CPB II) (Chromobindin 20) (Lipocortin VI) (Protein III) (p68) (p70)
  • Length: 673  
  • Mass: 75,873
• Sequence:

  MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSRSNRQRQEVCQSYKSLYGKDLIADLK
  YELTGKFERLIVGLMRPPAYCDAKEIKDAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDT
  SGHFQKMLVVLLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEYLKTTGKP
  IEASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIRIMVSRSELDMLDIREIFRTKYEKS
  LYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPEAAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKA
  MKGLGTDEDTIIDIITHRSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEG
  AGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGHREEGGENLDQAREDAQV
  AAEILEIADTPSGDKTSLETRFMTILCTRSYPHLRRVFQEFIKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNK
  PLFFADKLYKSMKGAGTDEKTLTRIMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED

• Structural information:
  • Interpro: IPR001464  IPR018502  IPR018252  IPR037104  IPR002393  
  • Prosite: PS00223
  • PDB: 1M9I
  • PDBsum: 1M9I
  • STRING: ENSP00000346550
• Other Databases: GeneCards:  ANXA6  Malacards:  ANXA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IMP	molecular function
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0008289	lipid binding	IMP	molecular function
GO:0014704	intercalated disc	IEA	cellular component
GO:0015276	ligand-gated ion channel activity	IMP	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0032403	protein complex binding	IEA	molecular function
GO:0034220	ion transmembrane transport	IMP	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0042803	protein homodimerization activity	IMP	molecular function
GO:0043234	protein complex	IEA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051260	protein homooligomerization	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IMP	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0008289	lipid binding	IMP	molecular function
GO:0014704	intercalated disc	IEA	cellular component
GO:0015276	ligand-gated ion channel activity	IMP	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0032403	protein complex binding	IEA	molecular function
GO:0034220	ion transmembrane transport	IMP	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0042803	protein homodimerization activity	IMP	molecular function
GO:0043234	protein complex	IEA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051260	protein homooligomerization	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IMP	molecular function
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0008289	lipid binding	IMP	molecular function
GO:0015276	ligand-gated ion channel activity	IMP	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0034220	ion transmembrane transport	IMP	biological process
GO:0042803	protein homodimerization activity	IMP	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0051260	protein homooligomerization	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Polycystic ovary syndrome (PCOS)	INFBASE: 27046189
Asthenozoospermia	MIK: 20369545
Male factor infertility	MIK: 20369545
Femur head necrosis	GAD: 19345290
Asthenozoospermia	MIK: 20369545

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20369545	Asthenozoospermia			6 seminal plasma samples were collected by Percoll respectively from healthy fertile and asthenozoospermia volunteers	Male infertility	annexin VI isoform 2 isoform 1 of interleukin-6 receptor subunit beta precursor Mr 400 000 protein cytosolic dynein heavy chain alpha-actinin-4 receptor-type tyrosine-protein phosphatase eta precursor vitamin D-binding protein precursor protein S10