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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 involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
HAVCR2 (Hepatitis A Virus Cellular Receptor 2) is a Protein Coding gene. Diseases associated with HAVCR2 include T-Cell Lymphoma, Subcutaneous Panniculitis-Like and Panniculitis. Among its related pathways are RET signaling and Innate Immune System. An important paralog of this gene is HAVCR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25363763 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0009986 | cell surface | IEA,IDA | 25363763 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytokine Signaling in Immune system | ||
2 | NF-kappaB Signaling | ||
3 | Innate Immune System |
.61
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4 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001819 | positive regulation of cytokine production | IEA | -- |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002281 | macrophage activation involved in immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002519 | natural killer cell tolerance induction | IMP | 25578313 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: | |||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HAVCR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HAVCR2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HAVCR2 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Havcr2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Havcr2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HAVCR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | HAVCR1 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | timd4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
752709 | Benign: not provided | 157,087,304(-) | T/C | INTRON_VARIANT | |
782945 | Benign: not provided | 157,087,178(-) | G/A | MISSENSE_VARIANT | |
rs147827860 | Risk Factor: Subcutaneous panniculitis-like T-cell lymphoma. T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] | 157,106,719(-) | G/Ap.Thr101Ile | MISSENSE_VARIANT | |
rs184868814 | Risk Factor: Subcutaneous panniculitis-like T-cell lymphoma. T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] | 157,106,776(-) | T/Cp.Tyr82Cys | MISSENSE_VARIANT | |
rs35960726 | Risk Factor: Subcutaneous panniculitis-like T-cell lymphoma. T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] | 157,106,730(-) | T/Cp.Ile97Met | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3575892 | CNV | gain | 25503493 |
nsv1109742 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
t-cell lymphoma, subcutaneous panniculitis-like |
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|
panniculitis |
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|
hepatitis a |
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|
hepatitis |
|
|
t-cell non-hodgkin lymphoma |
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|