Hs00386920_cn

• Gene Symbol: ITIH3
• Assay Reference Genome Location: Chr.3:52796794 on build GRCh38
• Cytoband: 3p21.1

Target Gene Details

• Entrez Gene ID: 3699
• Gene Name: inter-alpha-trypsin inhibitor heavy chain 3
• Gene Aliases: H3P, ITI-HC3, SHAP
• Location: Chr.3:52794768-52809009 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH3	NM_002217.3			NP_002208.3
	XM_005265105.4			XP_005265162.1
	XM_017006356.1			XP_016861845.1
	AK222757.1			BAD96477.1
	AK223483.1			BAD97203.1
	AK298450.1
	BC107604.1			AAI07605.1
	BC107605.1			AAI07606.1
	BC107814.1			AAI07815.1
	BX448552.2
	BX495022.1
	X67055.1			CAA47439.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv508928	Chr.3:52769883 - 52888575 on Build GRCh38	Insertion	TMEM110-MUSTN1 NEK4 ITIH3 MUSTN1 ITIH4 ITIH1 MIR8064 ITIH4-AS1 TMEM110
nsv1010761	Chr.3:52770531 - 52817242 on Build GRCh38	Gain	NEK4 ITIH3 ITIH4 ITIH1
esv2762328	Chr.3:52740868 - 52968134 on Build GRCh38	Loss	TMEM110-MUSTN1 SFMBT1 NEK4 ITIH3 MUSTN1 ITIH4 ITIH1 MIR8064 ITIH4-AS1 TMEM110
nsv834698	Chr.3:52715967 - 52894203 on Build GRCh38	Gain	TMEM110-MUSTN1 NEK4 ITIH3 MUSTN1 ITIH4 ITIH1 MIR8064 ITIH4-AS1 TMEM110

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

platelet degranulation
negative regulation of endopeptidase activity
hyaluronan metabolic process

Function(s)

endopeptidase inhibitor activity
serine-type endopeptidase inhibitor activity