ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3)

2007-02-01  

Identity

HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
H3P,ITI-HC3,SHAP
FUSION GENES

Other Information

Locus ID:

NCBI: 3699
MIM: 146650
HGNC: 6168
Ensembl: ENSG00000162267

Variants:

dbSNP: 3699
ClinVar: 3699
TCGA: ENSG00000162267
COSMIC: ITIH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162267ENST00000416872E7ET33
ENSG00000162267ENST00000449956Q06033
ENSG00000162267ENST00000621946A0A087WW43

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD27396837
PA449061clozapineChemicalClinicalAnnotationassociatedPD27396837

References

Pubmed IDYearTitleCitations
226142872013Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.103
178986972007Renal inter-alpha-trypsin inhibitor heavy chain 3 increases in calcium oxalate stone-forming patients.17
205150732010ITIH3 is a potential biomarker for early detection of gastric cancer.16
118077862002Inhibition of tumor growth and metastatic spreading by overexpression of inter-alpha-trypsin inhibitor family chains.10
262068632015Loci with genome-wide associations with schizophrenia in the Han Chinese population.9
273968372016The role of the ITIH3 rs2535629 variant in antipsychotic response.7
172115232007A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.6
172115232007A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.6
243736122014ITIH3 polymorphism may confer susceptibility to psychiatric disorders by altering the expression levels of GLT8D1.5
244616342014Association analysis between suicidal behaviour and candidate genes of bipolar disorder and schizophrenia.5

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