KIR2DS1 (killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3806
Gene name Gene Name - the full gene name approved by the HGNC.
Killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIR2DS1
Synonyms (NCBI Gene) Gene synonyms aliases
CD158H, CD158a, p50.1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.4
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
miRTarBase ID miRNA Experiments Reference
MIRT1095230 hsa-miR-1267 CLIP-seq
MIRT1095231 hsa-miR-1275 CLIP-seq
MIRT1095232 hsa-miR-138 CLIP-seq
MIRT1095233 hsa-miR-3147 CLIP-seq
MIRT1095234 hsa-miR-4425 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity NAS 8627176
GO:0005515 Function Protein binding IPI 18624290, 28546555
GO:0005886 Component Plasma membrane IDA 18682925
GO:0005886 Component Plasma membrane TAS
GO:0006955 Process Immune response NAS 8627176
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604952 6333 HGNC
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q14954
Protein name Killer cell immunoglobulin-like receptor 2DS1 (CD158 antigen-like family member H) (MHC class I NK cell receptor Eb6 ActI) (CD antigen CD158h)
Protein function Receptor on natural killer (NK) cells for some HLA-C alleles such as w6. Does not inhibit the activity of NK cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 32 → 115 Immunoglobulin domain Domain
PF00047 ig 132 → 213 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by NK cells. {ECO:0000269|PubMed:9430221}.
Sequence 
MSLTVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGRLVKSEETVILQCWSDVMFEHFLL
HREGMFNDTLRLIGEHHDGVSKANFSISRMKQDLAGTYRCYGSVTHSPYQLSAPSDPLDI
VIIGLYEKPSLSAQPGPTVLAGENVTLSCSSRSSYDMYHLSREGEAHERRLPAGTKVNGT
FQANFPLGPATHGGTYRCFGSFRDSPYEWSKSSDPLLVSVTGNPSNSWPSPTEPSSETGN
PRHLHVLIGTSVVKIPFTILLFFLLHRWCSDKKNAAVMDQEPAGNRTVNSEDSDEQDHQE
VSYA
Sequence length 304
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Antigen processing and presentation
Natural killer cell mediated cytotoxicity 		  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)		 19196962
Show/Hide Text Mining Associations (49)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Stimulate 28069185
Anemia Aplastic Associate 16263420
Anemia Aplastic Inhibit 30907293
Arthritis Psoriatic Associate 12218090
Arthritis Psoriatic Stimulate 15140215
Autoimmune Diseases Associate 16141329, 28546555
Bone Marrow Failure Disorders Associate 16263420
Carcinoma Hepatocellular Associate 37254046
Crohn Disease Associate 31194766
Dermatitis Atopic Stimulate 34408014