Hs03404735_cn

• Gene Symbol: HADHB
• Assay Reference Genome Location: Chr.2:26255884 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 3032
• Gene Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
• Gene Aliases: ECHB, MSTP029, MTPB, TP-BETA
• Location: Chr.2:26244748-26290465 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HADHB	NM_000183.2			NP_000174.1
	NM_001281512.1			NP_001268441.1
	NM_001281513.1			NP_001268442.1
	XM_011532803.1			XP_011531105.1
	XM_017003939.1			XP_016859428.1
	AF113209.1			AAG39280.1
	AK130072.1
	AK293142.1
	AK302322.1
	AK304455.1
	AK314455.1
	BC014572.1			AAH14572.1
	BC017564.2			AAH17564.1
	BC030824.1			AAH30824.1
	BC066963.1			AAH66963.1
	D16481.1			BAA03942.1
	DA067388.1
	DA835045.1
	DB477128.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3583674	Chr.2:26250470 - 26262026 on Build GRCh38	Loss	HADHB
esv33316	Chr.2:25440017 - 26672800 on Build GRCh38	Loss	DRC1 RAB10 OTOF ASXL2 ADGRF3 HADHB DTNB GAREM2 KIF3C C2orf70 CIB4 HADHA EPT1

More Information

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
cardiolipin acyl-chain remodeling

Function(s)

3-hydroxyacyl-CoA dehydrogenase activity
acetyl-CoA C-acyltransferase activity
enoyl-CoA hydratase activity
protein binding
long-chain-3-hydroxyacyl-CoA dehydrogenase activity
poly(A) RNA binding