Hs02115785_cn

• Gene Symbol: RHBDF2
• Assay Reference Genome Location: Chr.17:76471472 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: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RHBDF2	NM_001005498.3	18	2864	NP_001005498.2
	NM_024599.5	19	3026	NP_078875.4
	XM_005257669.3	19	3387	XP_005257726.1
	XM_005257670.1	19	2896	XP_005257727.1
	XM_011525249.2	19	4343	XP_011523551.1
	XM_011525250.2	20	3053	XP_011523552.1
	XM_011525251.2	19	2870	XP_011523553.1
	XM_017025079.1	19	3300	XP_016880568.1
	AK025994.1	14	2050	BAB15310.1
	AK074034.1	16	3964	BAB84860.1
	AK225684.1	14	2003
	AK292135.1	19	3019
	AK292166.1
	AL833680.1	12	2084
	AY500247.1	18	2715	AAS77567.1
	BC016034.1	19	3006	AAH16034.2
	BC035829.1	14	2112	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	RHBDF2 AANAT PRCD CYGB
nsv833549	Chr.17:76365444 - 76527890 on Build GRCh38	Gain	UBE2O SPHK1 RHBDF2 AANAT PRCD CYGB

More Information

• Set Membership: Intragenic, 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