• Gene id: 312

Gene Summary

• Gene Symbol: ANXA13   Gene   UCSC   Ensembl
• Aliases: ANX13, ISA
• Gene name: annexin A13
• Alternate names: annexin A13, annexin XIII, annexin, intestine-specific, annexin-13, intestine-specific annexin,
• Gene location: 8q24.13 (123737392: 123680793)     Exons: 12     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet be
• OMIM: 602573

SNPs

rs606231461

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

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs3129878

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

NC_000006.12   g.32440958A>C
NC_000006.11   g.32408735A>C
NT_113891.3   g.3879082C>A
NT_113891.2   g.3879188C>A
NG_002392.2   g.5293C>A
NT_167248.2   g.3664005A>C
NT_167248.1   g.3669601A>C
NT_167245.2   g.3681261A>C
NT_167245.1   g.3686846A>C
NT_167249.2   g.3756099A>C

rs4680

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

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs7194

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

NC_000006.12   g.32444703G>A
NC_000006.12   g.32444703G>C
NC_000006.11   g.32412480G>A
NC_000006.11   g.32412480G>C
NT_113891.3   g.3882792G>A
NT_113891.3   g.3882792G>C
NT_113891.2   g.3882898G>A
NT_113891.2   g.3882898G>C
NG_002392.2   g.9003G>A
NG_002392.2   g.9003G>

rs370681

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

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

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

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

Protein Summary

• Protein general information: P27216  
  • Name: Annexin A13 (Annexin XIII) (Annexin 13) (Intestine specific annexin) (ISA)
  • Length: 316  
  • Mass: 35415
  • Tissue specificity: Detected in epithelial cells in colon and jejunum (at protein level). Detected in epithelial cells in jejunum. {ECO
• Sequence:

  MGNRHAKASSPQGFDVDRDAKKLNKACKGMGTNEAAIIEILSGRTSDERQQIKQKYKATYGKELEEVLKSELSGN
  FEKTALALLDRPSEYAARQLQKAMKGLGTDESVLIEVLCTRTNKEIIAIKEAYQRLFDRSLESDVKGDTSGNLKK
  ILVSLLQANRNEGDDVDKDLAGQDAKDLYDAGEGRWGTDELAFNEVLAKRSYKQLRATFQAYQILIGKDIEEAIE
  EETSGDLQKAYLTLVRCAQDCEDYFAERLYKSMKGAGTDEETLIRIVVTRAEVDLQGIKAKFQEKYQKSLSDMVR
  SDTSGDFRKLLVALLH

• Structural information:
  • Interpro: IPR001464  IPR018502  IPR018252  IPR037104  IPR009166  
  • Prosite: PS00223 PS51897
  • PDB: 6B3I
  • PDBsum: 6B3I
  • STRING: ENSP00000262219
• Other Databases: GeneCards:  ANXA13  Malacards:  ANXA13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:1901611	phosphatidylglycerol binding	IDA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0030154	cell differentiation	NAS	biological process
GO:0005886	plasma membrane	NAS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray