Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	166379
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS12
Synonyms (NCBI Gene) Gene synonyms aliases	C4orf24
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q27
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Def

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115635198	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121918327	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918328	G>C	Pathogenic	Missense variant, coding sequence variant
rs138011813	C>T	Pathogenic	Missense variant, coding sequence variant
rs144855583	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151344630	C>G	Pathogenic	Coding sequence variant, missense variant
rs565073445	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777801	GTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs587777802	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777803	TT>-	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs745448288	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs746478265	ACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs747904021	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs750366365	A>C,G	Likely-pathogenic	Missense variant, initiator codon variant
rs752202089	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs752762669	CAGATGCAA>-	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs756061536	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759088490	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs766741204	TAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs767068756	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs769588983	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs770872200	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517193	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1173504533	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1195341481	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1269565757	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1284876635	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1339432710	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1381368546	C>A	Pathogenic	Coding sequence variant, stop gained
rs1397714772	TT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1444062882	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553941150	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1553941255	ACTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941258	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941279	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941304	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553941312	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553941369	GT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1553941391	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941404	G>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1553941433	->TGTGATG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941540	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553941580	C>G	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1578489760	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1578491064	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1578491135	A>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT046329	hsa-miR-23b-3p	CLASH	23622248
MIRT2180274	hsa-miR-21	CLIP-seq
MIRT2180275	hsa-miR-590-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20080638, 22500027, 26900326, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005929	Component	Cilium	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042755	Process	Eating behavior	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IMP	22958920
GO:0048863	Process	Stem cell differentiation	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IBA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IMP	20080638
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
610683	26648	ENSG00000181004

Protein

UniProt ID

Q6ZW61

Protein name

Chaperonin-containing T-complex member BBS12 (Bardet-Biedl syndrome 12 protein)

Protein function

Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in cilioge

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00118	Cpn60_TCP1	266 → 570	TCP-1/cpn60 chaperonin family	Family

Sequence

MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESL
DLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGL
NFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVA
SQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRT
DNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIE
GDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLD
VVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGG
AVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIP
RVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL

Sequence length

710

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	bardet-biedl syndrome, bardet-biedl syndrome 12, Bardet-Biedl syndrome 1	rs974173261, rs1173504533, rs770218590, rs1553941304, rs1381368546, rs1553941369, rs587777802, rs1339432710, rs752202089, rs1269565757, rs121918328, rs1553941391, rs1195341481, rs138011813, rs1560708847 View all (27 more)	N/A
retinal dystrophy	Retinal dystrophy	rs1553941304, rs1560708847, rs121918328, rs138011813, rs587777803, rs752762669, rs770218590, rs974173261	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1578491064, rs752762669	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anus Imperforate	Associate	33369054
Bardet Biedl Syndrome	Associate	20142850, 20177705, 20876674, 21052717, 30312873, 33369054, 33964006, 36384733, 37293956
Breast Neoplasms	Associate	29954368
Hyperlipidemias	Associate	20876674
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	20876674
Kidney Diseases	Associate	20876674
Neoplasm Invasiveness	Associate	24887297
Nijmegen Breakage Syndrome	Associate	31888296

BBS12 (Bardet-Biedl syndrome 12)