Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ITIH3
Symbol Alias	H3P
Approved Name	inter-alpha-trypsin inhibitor heavy chain 3
Previous Name	inter-alpha (globulin) inhibitor, H3 polypeptide, "inter-alpha (globulin) inhibitor H3"
Name Alias	pre-alpha (globulin) inhibitor, H3 polypeptide, "inter-alpha-trypsin inhibitor heavy chain H3"
Location	3p21.1
Position	chr3:52794768-52809009, 1
External Links	HGNC: 6168 Entrez Gene: 3699 Ensembl: ENSG00000162267 UCSC: uc003dfv.2
No. of Studies	3 (Positive: 3; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cross-Disorder Group of the Psychiatric Genomics Consortium,2013	SNP: rs2535629	Significant association was observed in cross-disorder analysis.	Positive	Comment on Study
Moskvina, V.,2009		In BD:Smallest P-value per gene=0.0016, Product of P truncation <=0.01=0.0016, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study
Kondo, K.,2013	SNP: rs736408	Significant association was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 6)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004867	serine-type endopeptidase inhibitor activity	molecular function	IEA	7
GO:0030212	hyaluronan metabolic process	biological process	IEA	3

GO terms by database search (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23533145]	176
GO:0010951	negative regulation of endopeptidase activity	biological process	IEA; TAS[2465147]	10
GO:0004866	endopeptidase inhibitor activity	molecular function	TAS[2465147]	1
GO:0005576	extracellular region	cellular component	NAS[14718574]	97

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ITIH3	SPINT2	NO	in vivo	9359851

Related other genetic factors

Gene related SNPs (count: 18)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs736408	chr3:52801338 - 52801338(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	3(1/0/2)
rs2535629	chr3:52799203 - 52799203(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	3(3/0/0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs2270197	chr3:52790079 - 52790079(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs1076425	chr3:52791446 - 52791446(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1075653	chr3:52791512 - 52791512(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; splice_region_variant; upstream_gene_variant
rs9324	chr3:52791569 - 52791569(1)	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant
rs2071506	chr3:52792260 - 52792260(1)	downstream_gene_variant; upstream_gene_variant
rs2071507	chr3:52792691 - 52792691(1)	downstream_gene_variant; upstream_gene_variant
rs2071508	chr3:52792830 - 52792830(1)	downstream_gene_variant; upstream_gene_variant
rs9881468	chr3:52794612 - 52794612(1)	downstream_gene_variant; upstream_gene_variant
rs2071044	chr3:52813585 - 52813585(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2535627	chr3:52811089 - 52811089(1)	downstream_gene_variant
rs4481150	chr3:52803777 - 52803777(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs3617	chr3:52799789 - 52799789(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2240919	chr3:52797685 - 52797685(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2240920	chr3:52796993 - 52796993(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2239699	chr3:52793899 - 52793899(1)	downstream_gene_variant; upstream_gene_variant
rs6778329	chr3:52790594 - 52790594(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p21	chr3:43600000-54400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 3)

Reference	Description	Result Category
23967141	Significant association was observed.	Positive
19065143	In SZ:Smallest P-value per gene=0.0005, Product of P truncation <=0.01=0.0005, Product of P truncation <=0.001=0.0005 It showed evidence for association with SZ.	Positive
23453885	Significant association was observed in cross-disorder analysis.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
23453885	Significant association was observed in cross-disorder analysis.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr3:52794768..52809009 View in gBrowse