Hs01421417_cn

• Gene Symbol: RHBDF2
• Assay Reference Genome Location: Chr.17:76472711 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 79651
• Gene Name: rhomboid 5 homolog 2
• Gene Aliases: RHBDL5, RHBDL6, TEC, TOC, TOCG, iRhom2
• Location: Chr.17:76470893-76501440 on Build GRCh38
• Assay Gene Location: Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RHBDF2	NM_001005498.3			NP_001005498.2
	NM_024599.5			NP_078875.4
	XM_005257669.3			XP_005257726.1
	XM_005257670.1			XP_005257727.1
	XM_011525249.2			XP_011523551.1
	XM_011525250.2			XP_011523552.1
	XM_011525251.2			XP_011523553.1
	XM_017025079.1			XP_016880568.1
	AK025994.1			BAB15310.1
	AK074034.1	16	2725	BAB84860.1
	AK225684.1
	AK292135.1
	AK292166.1
	AL833680.1
	AY500247.1			AAS77567.1
	BC016034.1			AAH16034.2
	BC035829.1			AAH35829.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058263	Chr.17:76466514 - 76530556 on Build GRCh38	Gain	CYGB PRCD AANAT RHBDF2
nsv833549	Chr.17:76365444 - 76527890 on Build GRCh38	Gain	CYGB PRCD AANAT RHBDF2 UBE2O SPHK1

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

protein transport
protein processing
regulation of epidermal growth factor receptor signaling pathway
regulation of protein secretion
negative regulation of protein secretion

Function(s)

serine-type endopeptidase activity
growth factor binding