Hs00504012_cn

• Gene Symbol: ITIH2
• Assay Reference Genome Location: Chr.10:7730109 on build GRCh38
• Cytoband: 10p14

Target Gene Details

• Entrez Gene ID: 3698
• Gene Name: inter-alpha-trypsin inhibitor heavy chain 2
• Gene Aliases: H2P, SHAP
• Location: Chr.10:7703273-7749520 on Build GRCh38
• Assay Gene Location: Overlaps Exon 12 - Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH2	NM_002216.2			NP_002207.2
	AK225277.1
	AK225329.1
	AK291379.1
	AK297334.1
	BC132685.1
	BG617651.1
	CB154170.1
	M18193.1			AAA60558.1
	M33033.1			AAA59195.1
	X07173.1			CAA30160.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv549933	Chr.10:7586456 - 8160993 on Build GRCh38	Gain	ATP5C1 ITIH2 GATA3-AS1 GATA3 ITIH5 TAF3 KIN
esv3891752	Chr.10:7697592 - 7743053 on Build GRCh38	Gain	ITIH2

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
hyaluronan metabolic process

Function(s)

endopeptidase inhibitor activity
serine-type endopeptidase inhibitor activity