Hs05893663_cn

• Gene Symbol: P3H2
• Assay Reference Genome Location: Chr.3:190121586 on build GRCh38
• Cytoband: 3q28

Target Gene Details

• Entrez Gene ID: 55214
• Gene Name: prolyl 3-hydroxylase 2
• Gene Aliases: LEPREL1, MCVD, MLAT4
• Location: Chr.3:189956728-190122437 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P3H2	NM_001134418.1			NP_001127890.1
	XM_011512955.1			XP_011511257.1
	BC005029.1			AAH05029.1
	DA720646.1

Target Gene Details

• Entrez Gene ID: 101929152
• Gene Name: P3H2 antisense RNA 1
• Gene Aliases: LEPREL1-AS1
• Location: Chr.3:190120964-190144846 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P3H2-AS1	NR_126419.1
	BM017065.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1014822	Chr.3:190065059 - 190464556 on Build GRCh38	Gain	TMEM207 P3H2-AS1 CLDN16 P3H2 CLDN1
esv3599064	Chr.3:190120192 - 190123347 on Build GRCh38	Loss	P3H2-AS1 P3H2
esv3893843	Chr.3:190075998 - 191094501 on Build GRCh38	Gain	TMEM207 P3H2-AS1 SNAR-I GMNC CLDN16 IL1RAP P3H2 CLDN1

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix glycoprotein

Gene Ontology Categories:

Process(es)

negative regulation of cell proliferation
peptidyl-proline hydroxylation
collagen metabolic process
oxidation-reduction process

Function(s)

iron ion binding
procollagen-proline 3-dioxygenase activity
L-ascorbic acid binding