Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84868
Gene name Gene Name - the full gene name approved by the HGNC.
Hepatitis A virus cellular receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAVCR2
Synonyms (NCBI Gene) Gene synonyms aliases
CD366, HAVcr-2, KIM-3, SPTCL, TIM3, TIMD-3, TIMD3, Tim-3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPTCL
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involv
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35960726 T>C Risk-factor Coding sequence variant, missense variant
rs147827860 G>A Risk-factor Coding sequence variant, missense variant
rs184868814 T>C Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT459333 hsa-miR-6808-5p PAR-CLIP 23592263
MIRT459332 hsa-miR-6893-5p PAR-CLIP 23592263
MIRT459331 hsa-miR-940 PAR-CLIP 23592263
MIRT459330 hsa-miR-302c-3p PAR-CLIP 23592263
MIRT459329 hsa-miR-520f-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002281 Process Macrophage activation involved in immune response IEA
GO:0002519 Process Natural killer cell tolerance induction IMP 25578313
GO:0002652 Process Regulation of tolerance induction dependent upon immune response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606652 18437 ENSG00000135077
Protein
UniProt ID Q8TDQ0
Protein name Hepatitis A virus cellular receptor 2 (HAVcr-2) (T-cell immunoglobulin and mucin domain-containing protein 3) (TIMD-3) (T-cell immunoglobulin mucin receptor 3) (TIM-3) (T-cell membrane protein 3) (CD antigen CD366)
Protein function Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or t
PDB 5DZL , 5F71 , 6DHB , 6TXZ , 7KQL , 7M3Y , 7M3Z , 7M41 , 8HGJ , 8TBB , 8TFT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 21 130 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in T-helper type 1 (Th1) lymphocytes. Expressed on regulatory T (Treg) cells after TCR stimulation. Expressed in dendritic cells and natural killer (NK) cells. Expressed in epithelial tissues. Expression is increased on CD4+
Sequence
MFSHLPFDCVLLLLLLLLTRSSEVEYRAEVGQNAYLPCFYTPAAPGNLVPVCWGKGACPV
FECGNVVLRTDERDVNYWTSRYWLNGDFRKGDVSLTIENVTLADSGIYCCRIQIPGIMND
EKFNLKLVIK
PAKVTPAPTRQRDFTAAFPRMLTTRGHGPAETQTLGSLPDINLTQISTLA
NELRDSRLANDLRDSGATIRIGIYIGAGICAGLALALIFGALIFKWYSHSKEKIQNLSLI
SLANLPPSGLANAVAEGIRSEENIYTIEENVYEVEEPNEYYCYVSSRQQPSQPLGCRFAM
P
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Efferocytosis  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis, Familial, 1 rs796065024, rs796065025, rs796065026, rs777759523, rs121434352, rs201908137, rs121434353, rs121434354, rs483352901, rs104893996, rs121918540, rs1599398298, rs121918541, rs1599395085, rs2146217813
View all (66 more)
30374066
Hypofibrinogenemia Hypofibrinogenemia rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Unknown
Disease term Disease name Evidence References Source
Subcutaneous panniculitis-like t-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma 30374066 ClinVar
Subcutaneous Panniculitis-Like T-Cell Lymphoma subcutaneous panniculitis-like T-cell lymphoma GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 40068377
Acrocephalosyndactylia Associate 37118659
Acute On Chronic Liver Failure Associate 35502507
Adenocarcinoma Associate 35228614, 35708739, 35800186, 36759392
Adenocarcinoma of Lung Associate 26851185, 35476781, 35836920, 36197217, 36759392, 36865498, 37131252, 37536668
Adenomyosis Stimulate 32319832
Anemia Associate 37479109
Anxiety Disorders Associate 38016492
Arteriosclerosis Obliterans Stimulate 32467985
Arteriosclerosis Obliterans Associate 35757718