Gene Gene information from NCBI Gene database.
Entrez ID 3824
Gene name Killer cell lectin like receptor D1
Gene symbol KLRD1
Synonyms (NCBI Gene)
CD94
Chromosome 12
Chromosome location 12p13.2
Summary Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells
miRNA miRNA information provided by mirtarbase database.
604
miRTarBase ID miRNA Experiments Reference
MIRT713357 hsa-miR-106a-5p HITS-CLIP 19536157
MIRT713356 hsa-miR-106b-5p HITS-CLIP 19536157
MIRT713355 hsa-miR-17-5p HITS-CLIP 19536157
MIRT713354 hsa-miR-20a-5p HITS-CLIP 19536157
MIRT713353 hsa-miR-20b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001915 Process Negative regulation of T cell mediated cytotoxicity IDA 9485206
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway IBA
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway IDA 9655483
GO:0002228 Process Natural killer cell mediated immunity IDA 9655483
GO:0002228 Process Natural killer cell mediated immunity IDA 18448674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602894 6378 ENSG00000134539
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13241
Protein name Natural killer cells antigen CD94 (KP43) (Killer cell lectin-like receptor subfamily D member 1) (NK cell receptor) (CD antigen CD94)
Protein function Immune receptor involved in self-nonself discrimination. In complex with KLRC1 or KLRC2 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides der
PDB 1B6E , 3BDW , 3CDG , 3CII
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 78 176 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in NK cell subsets (at protein level) (PubMed:21825173, PubMed:9430220, PubMed:9485206). Expressed in memory/effector CD8-positive alpha-beta T cell subsets (at protein level) (PubMed:12387742, PubMed:20952657). Expressed in
Sequence
MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNSFTKLSIEPAFTPGPNIELQKDSDCCS
CQEKWVGYRCNCYFISSEQKTWNESRHLCASQKSSLLQLQNTDELDFMSSSQQFYWIGLS
YSEEHTAWLWENGSALSQYLFPSFETFNTKNCIAYNPNGNALDESCEDKNRYICKQ
QLI
Sequence length 179
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Graft-versus-host disease
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
DAP12 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 28630305
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 38045693 Associate
★☆☆☆☆
Found in Text Mining only
Angina Pectoris Angina pectoris Pubtator 26823790 Inhibit
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22102879, 24673109 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24033084
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 40448140 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28546555
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 17767552
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome LHGDN 17767552
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39363164 Associate
★☆☆☆☆
Found in Text Mining only