Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
BBS9 Bardet-Biedl syndrome 9	B1 , D1 , C18 , PTHB1	Homo sapiens	27	protein-coding			607968

Summary

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]

GeneOntology

Function (1)

Go ID	Value	Evidence
0003674	enables molecular_function	ND

Component (10)

Go ID	Value	Evidence
0034464	part_of BBSome	IBA
0034464	part_of BBSome	IDA
0034464	part_of BBSome	IPI
0034451	located_in centriolar satellite	IDA
0060170	located_in ciliary membrane	IDA
0035869	located_in ciliary transition zone	IDA
0005929	located_in cilium	IDA
0005829	located_in cytosol	TAS
0016020	is_active_in membrane	IBA
0000242	located_in pericentriolar material	IDA

Process (6)

Go ID	Value	Evidence
0060271	involved_in cilium assembly	IBA
0060271	involved_in cilium assembly	NAS
0045444	involved_in fat cell differentiation	ISS
0061512	involved_in protein localization to cilium	IMP
0015031	involved_in protein transport	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - BBS9 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_TEOAQ9	Orycteropus afer	Tubulidentata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004