Hs02195714_cn

• Gene Symbol: BBS2
• Assay Reference Genome Location: Chr.16:56485650 on build GRCh38
• Cytoband: 16q13

Target Gene Details

• Entrez Gene ID: 583
• Gene Name: Bardet-Biedl syndrome 2
• Gene Aliases: BBS, RP74
• Location: Chr.16:56470403-56520096 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBS2	NM_031885.3	16	2233	NP_114091.3
	XM_005256080.2	16	2232	XP_005256137.1
	AB208905.1	11	5530	BAD92142.1
	AF342736.1	16	2420	AAK28552.1
	AK027635.1	16	2161	BAB55252.1
	AK127290.1	3	3487
	AK289604.1	16	2123
	AL834176.1	4	1581	CAD38873.2
	BC014140.2	16	2123	AAH14140.1
	BM982214.1	2	559
	DB316257.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833243	Chr.16:56375371 - 56549461 on Build GRCh38	Gain	BBS2 OGFOD1 NUDT21 AMFR

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sperm axoneme assembly
visual perception
protein localization
negative regulation of gene expression
artery smooth muscle contraction
striatum development
hippocampus development
cerebral cortex development
adult behavior
melanosome transport
protein localization to organelle
nonmotile primary cilium assembly
negative regulation of appetite by leptin-mediated signaling pathway
negative regulation of multicellular organism growth
positive regulation of multicellular organism growth
vasodilation
cilium assembly
Golgi to plasma membrane protein transport
fat cell differentiation
photoreceptor cell maintenance
brain morphogenesis
cartilage development
cilium morphogenesis
regulation of cilium beat frequency involved in ciliary motility
protein localization to ciliary membrane

Function(s)

RNA polymerase II repressing transcription factor binding
protein binding