• Gene id: 3809

Gene Summary

• Gene Symbol: KIR2DS4   Gene   UCSC   Ensembl
• Aliases: CD158I, KIR-2DS4, KIR1D, KIR412, KKA3, NKAT-8, NKAT8
• Gene name: killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4
• Alternate names: killer cell immunoglobulin-like receptor 2DS4, CD158 antigen-like family member I, KIR antigen 2DS4, P58 natural killer cell receptor clones CL-39/CL-17, killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, killer inhibitory recept,
• Gene location: 19q13.42 (54832706: 54848574)     Exons: 8     NC_000019.10
• Gene summary(Entrez): Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the
• OMIM: 604955

Protein Summary

• Protein general information: P43632  
  • Name: Killer cell immunoglobulin like receptor 2DS4 (CD158 antigen like family member I) (MHC class I NK cell receptor) (Natural killer associated transcript 8) (NKAT 8) (P58 natural killer cell receptor clones CL 39/CL 17) (p58 NK receptor CL 39/CL 17) (CD ant
  • Length: 304  
  • Mass: 33583
• Sequence:

  MSLMVIIMACVGFFLLQGAWPQEGVHRKPSFLALPGHLVKSEETVILQCWSDVMFEHFLLHREGKFNNTLHLIGE
  HHDGVSKANFSIGPMMPVLAGTYRCYGSVPHSPYQLSAPSDPLDMVIIGLYEKPSLSAQPGPTVQAGENVTLSCS
  SRSSYDMYHLSREGEAHERRLPAVRSINGTFQADFPLGPATHGGTYRCFGSFRDAPYEWSNSSDPLLVSVTGNPS
  NSWPSPTEPSSKTGNPRHLHVLIGTSVVKIPFTILLFFLLHRWCSDKKNAAVMDQEPAGNRTVNSEDSDEQDHQE
  VSYA

• Structural information:
  • Protein Domains: (42..10-)
    1 (/note="Ig-like-C2-type)
    (142..20-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR036179  IPR013783  IPR003599  IPR013151  
  • PDB: 3H8N
  • PDBsum: 3H8N
• Other Databases: GeneCards:  KIR2DS4  Malacards:  KIR2DS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0023029	MHC class Ib protein binding	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq