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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HAVCR2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE 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 lymphocytic leukemia Lymphocytic Leukemia BEFREE 30635636, 31376919
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 29254227, 29632738, 31291985
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30459127
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24046178
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26428847, 29844001, 29858021, 31516613
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30635636
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 31007846
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30384489
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 15603868
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 30243069
★☆☆☆☆
Found in Text Mining only