• Gene id: 100132285

Gene Summary

• Gene Symbol: KIR2DS2   Gene   UCSC   Ensembl
• Aliases: 183ActI, CD158J, CD158b, KIR-2DS2, NKAT-5, NKAT5, cl-49
• Gene name: killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2
• Alternate names: killer cell immunoglobulin-like receptor 2DS2, CD158 antigen-like family member J, MHC class I NK cell receptor, NK receptor 183 ActI, killer cell immunoglobulin-like receptor KIR2DS2, killer cell immunoglobulin-like receptor, two domains, short cytoplasm,
• Gene location: 19q13.4 (: )     Exons:     
• 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: 604953

Protein Summary

• Protein general information: P43631  
  • Name: Killer cell immunoglobulin like receptor 2DS2 (CD158 antigen like family member J) (MHC class I NK cell receptor) (NK receptor 183 ActI) (Natural killer associated transcript 5) (NKAT 5) (p58 natural killer cell receptor clone CL 49) (p58 NK receptor CL 4
  • Length: 304  
  • Mass: 33,502
• Sequence:

  MSLMVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGPLVKSEETVILQCWSDVRFEHFLLHREGKYKDTLHLIGE
  HHDGVSKANFSIGPMMQDLAGTYRCYGSVTHSPYQLSAPSDPLDIVITGLYEKPSLSAQPGPTVLAGESVTLSCS
  SRSSYDMYHLSREGEAHERRFSAGPKVNGTFQADFPLGPATHGGTYRCFGSFRDSPYEWSNSSDPLLVSVTGNPS
  NSWPSPTEPSSKTGNPRHLHVLIGTSVVKIPFTILLFFLLHRWCSNKKNAAVMDQEPAGNRTVNSEDSDEQDHQE
  VSYA

• Structural information:
  • Protein Domains: Ig-like (42-107)
    Ig-like (142-205)
  • Interpro: IPR036179  IPR013783  IPR003599  IPR013151  
  • PDB: 1M4K 4N8V
  • PDBsum: 1M4K 4N8V
• Other Databases: GeneCards:  KIR2DS2  Malacards:  KIR2DS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	NAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	NAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa00480	Glutathione metabolism
hsa00512	Mucin type O-glycan biosynthesis
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Cancer (Hepatocellular)	GAD: 19326408
Cancer (leukemia)	GAD: 19450876
Cancer (lymphoma)	GAD: 20207982
Cancer (Neuroblastoma)	GAD: 19934297
Cardiovascular disease	GAD: 18755860
Graves disease	GAD: 19664392
Chorioretinitis	GAD: 18340360
Arthritis	GAD: 17882223
Behcet's disease	GAD: 17868255
Ulcerative colitis	GAD: 16929347
Rheumatoid arthritis	GAD: 11369787
Multiple sclerosis	GAD: 19421224
Scleroderma	GAD: 20082621
Psoriasis	GAD: 18681957
Psoriatic arthritis	GAD: 16112031
Systemic lupus erythematosus (SLE)	GAD: 17445179
Systemic lupus erythematosus (SLE)	GAD: 18687225
Autoimmune diseases	GAD: 20082482
Axial spondyloarthropathy	GAD: 19850842
Diabetes	GAD: 14514651
Osteoarthritis	GAD: 19489269
Osteoarthritis	GAD: 19489269
Ankylosing spondylitis	GAD: 19019897
Paraparesis	GAD: 20483367
Uveomeningoencephalitic syndrome	GAD: 18571006
Vogt-Koyanagi-Harada syndrome	GAD: 19897003
Abortion	GAD: 20210919
Pregnancy loss	GAD: 19279038
Spontaneous abortion	GAD: 19875891
Cryptorchidism	MIK: 26679162
Cryptorchidism	MIK: 26679162

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26679162	Cryptorchidism			245 (109 prepubertal boys with cryptorchidism, 136 ethnically matched young male donors)	Male infertility