• Gene id: 27181

Gene Summary

• Gene Symbol: SIGLEC8   Gene   UCSC   Ensembl
• Aliases: SAF2, SIGLEC-8, SIGLEC8L
• Gene name: sialic acid binding Ig like lectin 8
• Alternate names: sialic acid-binding Ig-like lectin 8, CDw329, SAF-2, sialoadhesin family member 2,
• Gene location: 19q13.41 (51458453: 51450996)     Exons: 7     NC_000019.10
• Gene summary(Entrez): Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup o
• OMIM: 605639

Protein Summary

• Protein general information: Q9NYZ4  
  • Name: Sialic acid binding Ig like lectin 8 (Siglec 8) (Sialoadhesin family member 2) (SAF 2)
  • Length: 499  
  • Mass: 54042
  • Tissue specificity: Expressed specifically on red blood cells namely basophil, mast cells and eosinophils. {ECO
• Sequence:

  MLLLLLLLPLLWGTKGMEGDRQYGDGYLLQVQELVTVQEGLCVHVPCSFSYPQDGWTDSDPVHGYWFRAGDRPYQ
  DAPVATNNPDREVQAETQGRFQLLGDIWSNDCSLSIRDARKRDKGSYFFRLERGSMKWSYKSQLNYKTKQLSVFV
  TALTHRPDILILGTLESGHSRNLTCSVPWACKQGTPPMISWIGASVSSPGPTTARSSVLTLTPKPQDHGTSLTCQ
  VTLPGTGVTTTSTVRLDVSYPPWNLTMTVFQGDATASTALGNGSSLSVLEGQSLRLVCAVNSNPPARLSWTRGSL
  TLCPSRSSNPGLLELPRVHVRDEGEFTCRAQNAQGSQHISLSLSLQNEGTGTSRPVSQVTLAAVGGAGATALAFL
  SFCIIFIIVRSCRKKSARPAAGVGDTGMEDAKAIRGSASQGPLTESWKDGNPLKKPPPAVAPSSGEEGELHYATL
  SFHKVKPQDPQGQEATDSEYSEIKIHKRETAETQACLRNHNPSSKEVRG

• Structural information:
  • Protein Domains: (40..12-)
    (/note="Ig-like-V-type)
    (157..24-)
    1 (/note="Ig-like-C2-type)
    (246..34-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR013106  
  • Prosite: PS50835
  • PDB: 2N7A 2N7B
  • PDBsum: 2N7A 2N7B
  • STRING: ENSP00000321077
• Other Databases: GeneCards:  SIGLEC8  Malacards:  SIGLEC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033691	sialic acid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0030246	carbohydrate binding	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)