Bbs2 Gene Search Result

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6 records found for search term Bbs2

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
732435	BBS2	Bardet-Biedl syndrome 2	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are struct ... (more) urally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]	16	56470403	56520024	Human	684	symbol , old_gene_name , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1319511	BBS7	Bardet-Biedl syndrome 7	This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly i ... (more) s mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]	4	121824329	121870474	Human	339	old_gene_name , description , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1316858	BBS1	Bardet-Biedl syndrome 1	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]	11	66510635	66533598	Human	464	old_gene_name , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1606135	CFAP418	cilia and flagella associated protein 418	This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene ... (more) have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]	8	95244913	95269201	Human	302	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
731569	IFT172	intraflagellar transport 172	This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasi ... (more) as 1, 9 or 10. [provided by RefSeq, Mar 2014]	2	27444377	27489743	Human	576	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1342560	IFT74	intraflagellar transport 74	This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays betw ... (more) een the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]	9	26947110	27066134	Human	318	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]