Hs01922802_cn

• Gene Symbol: HACD2
• Assay Reference Genome Location: Chr.3:123500621 on build GRCh38
• Cytoband: 3q21.1

Target Gene Details

• Entrez Gene ID: 201562
• Gene Name: 3-hydroxyacyl-CoA dehydratase 2
• Gene Aliases: PTPLB
• Location: Chr.3:123491548-123585093 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HACD2	NM_198402.3	6	626	NP_940684.1
	XM_017005855.1	5	407	XP_016861344.1
	AK074605.1	2	162
	AK289983.1	6	626
	AL832532.1	2	196
	AY191814.1	6	738	AAP20101.1
	BC049369.1	6	734	AAH49369.1
	BC060839.1	6	628	AAH60839.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829707	Chr.3:123357546 - 123540363 on Build GRCh38	Loss	HACD2 ADCY5
nsv3978	Chr.3:123456399 - 123501453 on Build GRCh38	Deletion	HACD2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sphingolipid biosynthetic process
fatty acid elongation
long-chain fatty-acyl-CoA biosynthetic process
very long-chain fatty acid biosynthetic process

Function(s)

protein tyrosine phosphatase activity
protein binding
3-hydroxyacyl-CoA dehydratase activity
enzyme binding
3R-hydroxyacyl-CoA dehydratase activity
3-hydroxy-behenoyl-CoA dehydratase activity
3-hydroxy-lignoceroyl-CoA dehydratase activity