ITIH4 (inter-alpha-trypsin inhibitor heavy chain 4)

2013-11-01  

Identity

HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
GP120,H4P,IHRP,ITI-HC4,ITIHL1,PK-120,PK120
FUSION GENES

Other Information

Locus ID:

NCBI: 3700
MIM: 600564
HGNC: 6169
Ensembl: ENSG00000055955

Variants:

dbSNP: 3700
ClinVar: 3700
TCGA: ENSG00000055955
COSMIC: ITIH4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055955ENST00000266041Q14624
ENSG00000055955ENST00000406595Q14624
ENSG00000055955ENST00000441637H7C0L5
ENSG00000055955ENST00000485816B7ZKJ8

Expression (GTEx)

0
500
1000
1500
2000

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

References

Pubmed IDYearTitleCitations
248615532014Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.57
192635242009Inter-alpha-trypsin inhibitor heavy chain 4 is a novel marker of acute ischemic stroke.22
248846092014Site-specific glycan microheterogeneity of inter-alpha-trypsin inhibitor heavy chain H4.14
193675812010Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.13
234174322013Urine of patients with early prostate cancer contains lower levels of light chain fragments of inter-alpha-trypsin inhibitor and saposin B but increased expression of an inter-alpha-trypsin inhibitor heavy chain 4 fragment.10
146610792004Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.9
146610792004Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.9
262068632015Loci with genome-wide associations with schizophrenia in the Han Chinese population.9
184555322008Proteomic techniques identify urine proteins that differentiate patients with interstitial cystitis from asymptomatic control subjects.8
213314372011ITI-H4, as a biomarker in the serum of recurrent pregnancy loss (RPL) patients.8

Citation

Dessen P

ITIH4 (inter-alpha-trypsin inhibitor heavy chain 4)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53598/itih4