• Gene id: 310

Gene Summary

• Gene Symbol: ANXA7   Gene   UCSC   Ensembl
• Aliases: ANX7, SNX, SYNEXIN
• Gene name: annexin A7
• Alternate names: annexin A7, annexin VII, annexin-7,
• Gene location: 10q22.2 (73414057: 73375100)     Exons: 15     NC_000010.11
• Gene summary(Entrez): Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and
• OMIM: 186360

SNPs

rs17088625

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

NC_000008.11   g.22790337T>C
NC_000008.10   g.22647850T>C|SEQ=[T/C]|GENE=PEBP4

rs4997052

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

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

Protein Summary

• Protein general information: P20073  
  • Name: Annexin A7 (Annexin VII) (Annexin 7) (Synexin)
  • Length: 488  
  • Mass: 52739
  • Tissue specificity: Isoform 1 is expressed in brain, heart and skeletal muscle. Isoform 2 is more abundant in liver, lung, kidney, spleen, fibroblasts and placenta. {ECO
• Sequence:

  MSYPGYPPTGYPPFPGYPPAGQESSFPPSGQYPYPSGFPPMGGGAYPQVPSSGYPGAGGYPAPGGYPAPGGYPGA
  PQPGGAPSYPGVPPGQGFGVPPGGAGFSGYPQPPSQSYGGGPAQVPLPGGFPGGQMPSQYPGGQPTYPSQINTDS
  FSSYPVFSPVSLDYSSEPATVTQVTQGTIRPAANFDAIRDAEILRKAMKGFGTDEQAIVDVVANRSNDQRQKIKA
  AFKTSYGKDLIKDLKSELSGNMEELILALFMPPTYYDAWSLRKAMQGAGTQERVLIEILCTRTNQEIREIVRCYQ
  SEFGRDLEKDIRSDTSGHFERLLVSMCQGNRDENQSINHQMAQEDAQRLYQAGEGRLGTDESCFNMILATRSFPQ
  LRATMEAYSRMANRDLLSSVSREFSGYVESGLKTILQCALNRPAFFAERLYYAMKGAGTDDSTLVRIVVTRSEID
  LVQIKQMFAQMYQKTLGTMIAGDTSGDYRRLLLAIVGQ

• Structural information:
  • Interpro: IPR001464  IPR018502  IPR018252  IPR037104  
  • Prosite: PS00223 PS51897
  • STRING: ENSP00000362010
• Other Databases: GeneCards:  ANXA7  Malacards:  ANXA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061025	membrane fusion	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0009651	response to salt stress	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0031982	vesicle	IEA	cellular component
GO:0009992	cellular water homeostasis	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0042584	chromaffin granule membrane	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0006914	autophagy	IMP	biological process
GO:0005178	integrin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Non-Hodgkin lymphoma	PMID:17708571
Prostate cancer	PMID:17708571
Breast cancer	PMID:15073110
colon adenocarcinoma	PMID:17708571
Ovarian cancer	PMID:17708571
skin cancer	PMID:17708571
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray