AutismKB 2.0

Annotation Details for HAVCR2


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Basic Information Top
Gene Symbol:HAVCR2 ( FLJ14428,KIM-3,TIM3,TIMD3,Tim-3 )
Gene Full Name: hepatitis A virus cellular receptor 2
Band: 5q33.3
Quick LinksEntrez ID:84868; OMIM: 606652; Uniprot ID:TIMD3_HUMAN; ENSEMBL ID: ENSG00000135077; HGNC ID: 18437
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001772IEA-immunological synapse-
GO:0005769IEA-early endosome-
GO:0009986IDA-cell surface25363763
GO:0016021IEA-integral component of membrane-
GO:0030054IEA-cell junction-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25363763
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0002250IEA-adaptive immune response-
GO:0002281IEA-macrophage activation involved in immune response-
GO:0002519IMP-natural killer cell tolerance induction25578313
GO:0002652IEA-regulation of tolerance induction dependent upon immune response-
GO:0002826IEA-negative regulation of T-helper 1 type immune response-
GO:0002859IEA-negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target-
GO:0006954IEA-inflammatory response-
GO:0010629IMP-negative regulation of gene expression25578313
GO:0030886IMP-negative regulation of myeloid dendritic cell activation22842346
GO:0032088IMP-negative regulation of NF-kappaB transcription factor activity22842346
GO:0032687IDA-negative regulation of interferon-alpha production26492563
GO:0032689IDA-negative regulation of interferon-gamma production26492563
GO:0032703IDA-negative regulation of interleukin-2 production26492563
GO:0032712IDA-negative regulation of interleukin-3 production26492563
GO:0032715IEA-negative regulation of interleukin-6 production-
GO:0032720IMP-negative regulation of tumor necrosis factor production25578313
GO:0032722IEA-positive regulation of chemokine production-
GO:0032729IEA-positive regulation of interferon-gamma production-
GO:0032732IEA-positive regulation of interleukin-1 production-
GO:0032753IMP-positive regulation of interleukin-4 production25578313
GO:0032815IEA-negative regulation of natural killer cell activation-
GO:0034138IEA-toll-like receptor 3 signaling pathway-
GO:0034154IEA-toll-like receptor 7 signaling pathway-
GO:0034162IEA-toll-like receptor 9 signaling pathway-
GO:0042102IEA-positive regulation of T cell proliferation-
GO:0042130IEA-negative regulation of T cell proliferation-
GO:0043032IEA-positive regulation of macrophage activation-
GO:0045087IEA-innate immune response-
GO:0050830IEA-defense response to Gram-positive bacterium-
GO:0060135IDA-maternal process involved in female pregnancy25578313
GO:0070374IEA-positive regulation of ERK1 and ERK2 cascade-
GO:0071222IEA-cellular response to lipopolysaccharide-
GO:0071656IDA-negative regulation of granulocyte colony-stimulating factor production26492563
GO:1900425IEA-negative regulation of defense response to bacterium-
GO:1900426IEA-positive regulation of defense response to bacterium-
GO:1901224IEA-positive regulation of NIK/NF-kappaB signaling-
GO:1904469IMP-positive regulation of tumor necrosis factor secretion18006747
GO:2000521IEA-negative regulation of immunological synapse formation-
GO:2001189IDA-negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell26492563
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018