• Gene id: 946

Gene Summary

• Gene Symbol: SIGLEC6   Gene   UCSC   Ensembl
• Aliases: CD327, CD33L, CD33L1, CD33L2, CDW327, OBBP1
• Gene name: sialic acid binding Ig like lectin 6
• Alternate names: sialic acid-binding Ig-like lectin 6, CD33 antigen-like 1, obesity-binding protein 1,
• Gene location: 19q13.41 (51531802: 51517818)     Exons: 11     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia
• OMIM: 604405

SNPs

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: O43699  
  • Name: Sialic acid binding Ig like lectin 6 (Siglec 6) (CD33 antigen like 1) (CDw327) (Obesity binding protein 1) (OB BP1) (CD antigen CD327)
  • Length: 453  
  • Mass: 49913
  • Tissue specificity: Expressed at high levels in placenta (cyto- and syncytiotrophoblastic cells) and at lower levels in spleen, peripheral blood leukocytes (predominantly B-cells) and small intestine.
• Sequence:

  MQGAQEASASEMLPLLLPLLWAGALAQERRFQLEGPESLTVQEGLCVLVPCRLPTTLPASYYGYGYWFLEGADVP
  VATNDPDEEVQEETRGRFHLLWDPRRKNCSLSIRDARRRDNAAYFFRLKSKWMKYGYTSSKLSVRVMALTHRPNI
  SIPGTLESGHPSNLTCSVPWVCEQGTPPIFSWMSAAPTSLGPRTTQSSVLTITPRPQDHSTNLTCQVTFPGAGVT
  MERTIQLNVSYAPQKVAISIFQGNSAAFKILQNTSSLPVLEGQALRLLCDADGNPPAHLSWFQGFPALNATPISN
  TGVLELPQVGSAEEGDFTCRAQHPLGSLQISLSLFVHWKPEGRAGGVLGAVWGASITTLVFLCVCFIFRVKTRRK
  KAAQPVQNTDDVNPVMVSGSRGHQHQFQTGIVSDHPAEAGPISEDEQELHYAVLHFHKVQPQEPKVTDTEYSEIK
  IHK

• Structural information:
  • Protein Domains: (28..12-)
    (/note="Ig-like-V-type)
    (148..23-)
    1 (/note="Ig-like-C2-type)
    (238..33-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR013098   IPR003599  IPR003598  IPR013106  IPR013151  
  • Prosite: PS50835 PS00290
  • STRING: ENSP00000401502
• Other Databases: GeneCards:  SIGLEC6  Malacards:  SIGLEC6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033691	sialic acid binding	IBA	molecular function
GO:0007155	cell adhesion	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881