• Gene id: 84868

Gene Summary

• Gene Symbol: HAVCR2   Gene   UCSC   Ensembl
• Aliases: CD366, HAVcr-2, KIM-3, SPTCL, TIM3, TIMD-3, TIMD3, Tim-3
• Gene name: hepatitis A virus cellular receptor 2
• Alternate names: hepatitis A virus cellular receptor 2, T cell immunoglobulin mucin 3, T-cell immunoglobulin and mucin domain-containing protein 3, T-cell immunoglobulin mucin family member 3, T-cell immunoglobulin mucin receptor 3, T-cell membrane protein 3, kidney injury mole,
• Gene location: 5q33.3 (157109043: 157085831)     Exons: 7     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 606652

Protein Summary

• Protein general information: Q8TDQ0  
  • 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)
  • Length: 301  
  • Mass: 33394
  • 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:

  MFSHLPFDCVLLLLLLLLTRSSEVEYRAEVGQNAYLPCFYTPAAPGNLVPVCWGKGACPVFECGNVVLRTDERDV
  NYWTSRYWLNGDFRKGDVSLTIENVTLADSGIYCCRIQIPGIMNDEKFNLKLVIKPAKVTPAPTRQRDFTAAFPR
  MLTTRGHGPAETQTLGSLPDINLTQISTLANELRDSRLANDLRDSGATIRIGIYIGAGICAGLALALIFGALIFK
  WYSHSKEKIQNLSLISLANLPPSGLANAVAEGIRSEENIYTIEENVYEVEEPNEYYCYVSSRQQPSQPLGCRFAM
  P

• Structural information:
  • Protein Domains: (22..12-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • PDB: 5DZL 5F71 6DHB
  • PDBsum: 5DZL 5F71 6DHB
  • DIP: 61459
  • STRING: ENSP00000312002
• Other Databases: GeneCards:  HAVCR2  Malacards:  HAVCR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016592	mediator complex	IBA	cellular component
GO:2001189	negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IDA	biological process
GO:0032687	negative regulation of interferon-alpha production	IDA	biological process
GO:0032712	negative regulation of interleukin-3 production	IDA	biological process
GO:0071656	negative regulation of granulocyte colony-stimulating factor production	IDA	biological process
GO:0032703	negative regulation of interleukin-2 production	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030886	negative regulation of myeloid dendritic cell activation	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000521	negative regulation of immunological synapse formation	IEA	biological process
GO:1900426	positive regulation of defense response to bacterium	IEA	biological process
GO:1900425	negative regulation of defense response to bacterium	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0045824	negative regulation of innate immune response	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0032815	negative regulation of natural killer cell activation	IEA	biological process
GO:0032732	positive regulation of interleukin-1 production	IEA	biological process
GO:0032722	positive regulation of chemokine production	IEA	biological process
GO:0032703	negative regulation of interleukin-2 production	IEA	biological process
GO:0002838	negative regulation of immune response to tumor cell	IEA	biological process
GO:0002652	regulation of tolerance induction dependent upon immune response	IEA	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0001772	immunological synapse	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:1904469	positive regulation of tumor necrosis factor secretion	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0045089	positive regulation of innate immune response	IEA	biological process
GO:0043032	positive regulation of macrophage activation	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0034162	toll-like receptor 9 signaling pathway	IEA	biological process
GO:0034154	toll-like receptor 7 signaling pathway	IEA	biological process
GO:0034138	toll-like receptor 3 signaling pathway	IEA	biological process
GO:0032729	positive regulation of interferon-gamma production	IEA	biological process
GO:0032715	negative regulation of interleukin-6 production	IEA	biological process
GO:0032689	negative regulation of interferon-gamma production	IEA	biological process
GO:0032480	negative regulation of type I interferon production	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0002859	negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	IEA	biological process
GO:0002826	negative regulation of T-helper 1 type immune response	IEA	biological process
GO:0002281	macrophage activation involved in immune response	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060135	maternal process involved in female pregnancy	IDA	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0032753	positive regulation of interleukin-4 production	IMP	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IMP	biological process
GO:0002519	natural killer cell tolerance induction	IMP	biological process

Diseases

Associated diseases	References
Cystic fibrosis	PMID:21263071
renal cell carcinoma	PMID:22472081
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881