Identity
HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
H3P,ITI-HC3,SHAP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3699
MIM: 146650
HGNC: 6168
Ensembl: ENSG00000162267
Variants:
dbSNP: 3699
ClinVar: 3699
TCGA: ENSG00000162267
COSMIC: ITIH3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162267 | ENST00000416872 | E7ET33 |
| ENSG00000162267 | ENST00000449956 | Q06033 |
| ENSG00000162267 | ENST00000621946 | A0A087WW43 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 27396837 | |
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | PD | 27396837 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34978167 | 2022 | Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression. | 7 |
| 35261121 | 2022 | A psychiatric disorder risk polymorphism of ITIH3 is associated with multiple neuroimaging phenotypes in young healthy adults. | 0 |
| 34978167 | 2022 | Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression. | 7 |
| 35261121 | 2022 | A psychiatric disorder risk polymorphism of ITIH3 is associated with multiple neuroimaging phenotypes in young healthy adults. | 0 |
| 32251353 | 2020 | Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder. | 3 |
| 32712163 | 2020 | A functional missense variant in ITIH3 affects protein expression and neurodevelopment and confers schizophrenia risk in the Han Chinese population. | 8 |
| 32251353 | 2020 | Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder. | 3 |
| 32712163 | 2020 | A functional missense variant in ITIH3 affects protein expression and neurodevelopment and confers schizophrenia risk in the Han Chinese population. | 8 |
| 29992445 | 2018 | ITIH3 and ITIH4 polymorphisms and depressive symptoms during pregnancy in Japan: the Kyushu Okinawa Maternal and Child Health Study. | 3 |
| 29992445 | 2018 | ITIH3 and ITIH4 polymorphisms and depressive symptoms during pregnancy in Japan: the Kyushu Okinawa Maternal and Child Health Study. | 3 |
| 27396837 | 2016 | The role of the ITIH3 rs2535629 variant in antipsychotic response. | 15 |
| 27396837 | 2016 | The role of the ITIH3 rs2535629 variant in antipsychotic response. | 15 |
| 26206863 | 2015 | Loci with genome-wide associations with schizophrenia in the Han Chinese population. | 15 |
| 26206863 | 2015 | Loci with genome-wide associations with schizophrenia in the Han Chinese population. | 15 |
| 24373612 | 2014 | ITIH3 polymorphism may confer susceptibility to psychiatric disorders by altering the expression levels of GLT8D1. | 11 |
Citation
Dessen P
ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43827/itih3
