Gene Gene information from NCBI Gene database.
Entrez ID 84868
Gene name Hepatitis A virus cellular receptor 2
Gene symbol HAVCR2
Synonyms (NCBI Gene)
CD366HAVcr-2KIM-3SPTCLTIM3TIMD-3TIMD3Tim-3
Chromosome 5
Chromosome location 5q33.3
Summary 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.
3
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.
302
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002281 Process Macrophage activation involved in immune response IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606652 18437 ENSG00000135077
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs1036199 RCV005922338
HAVCR2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs70984443, rs190484372, rs73815925, rs140201248, rs184868814, rs147827860, rs72805186 RCV003980926
RCV003982501
RCV003941489
RCV003931952
RCV003966779
RCV003976457
RCV003955498
RCV003918257
RCV003926236
Subcutaneous panniculitis-like T-cell lymphoma Uncertain significance; Benign; Conflicting classifications of pathogenicity rs367701067, rs1036199, rs1757083456, rs184868814, rs35960726, rs147827860 RCV001354547
RCV001702051
RCV003142569
RCV000768411
RCV000768412
RCV000768413
Associations from Text MiningDisease associations identified through Pubtator
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