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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	166379
Gene name	Bardet-Biedl syndrome 12
Gene symbol	BBS12
Synonyms (NCBI Gene)	C4orf24
Chromosome	4
Chromosome location	4q27
Summary	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

Show/Hide all (46)

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

Show/Hide all (3)

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

Show/Hide all (16)

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

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

1219

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs121918327	RCV000626780
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1397714772	RCV001814214
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1800928868, rs759455327, rs750185673, rs1194574169, rs1560706958, rs1800897309, rs2150736431, rs2150736605, rs1283655166, rs2150736616, rs2150736854, rs2150737598, rs2150737655, rs764074545, rs1800933874 View all (95 more)	RCV001348093 RCV001389631 RCV001383630 RCV001381650 RCV001382034 RCV001385008 RCV001381700 RCV001388450 RCV001385896 RCV001390305 RCV001386729 RCV001383445 RCV001383249 RCV001386289 RCV001381296 RCV001381938 RCV001924810 RCV001950334 RCV001950772 RCV001881999 RCV001931169 RCV001926144 RCV002012241 RCV001874741 RCV001953495 RCV001911479 RCV001970067 RCV001949353 RCV001983011 RCV001958721 RCV001979717 RCV000538405 RCV001042718 RCV000735936 RCV002664349 RCV002578464 RCV002638850 RCV002791406 RCV002847203 RCV002847237 RCV002862711 RCV002958812 RCV002939020 RCV002979792 RCV003016061 RCV003048287 RCV003222506 RCV003222519 RCV003222522 RCV003222525 RCV003222526 RCV003222533 RCV003222537 RCV003405032 RCV003633721 RCV003486517 RCV003524108 RCV003525289 RCV003525347 RCV003524492 RCV003524838 RCV003522868 RCV003524794 RCV001210623 RCV000302878 RCV003634765 RCV003634725 RCV003634779 RCV003634792 RCV003634814 RCV003634922 RCV003633057 RCV003633030 RCV003633120 RCV003634035 RCV003856372 RCV003871827 RCV001210422 RCV000801690 RCV000525828 RCV000638353 RCV000807462 RCV001389867 RCV001389937 RCV001246835 RCV000800531 RCV001861789 RCV001388449 RCV001387028 RCV001855567 RCV001855509 RCV001058016 RCV002531359 RCV000797524 RCV001855571 RCV001037529 RCV003633531 RCV001257210 RCV000693654 RCV000735939 RCV000735937 RCV000816362 RCV000813794 RCV000058869 RCV002554767 RCV001238322 RCV001208514 RCV001234650 RCV001233077 RCV001232321 RCV003523090
Bardet-Biedl syndrome 1	Pathogenic	rs2150737232, rs121918327, rs2485077774	RCV003229072 RCV003228891 RCV003229561
Bardet-Biedl syndrome 12	Pathogenic; Likely pathogenic	rs759455327, rs750185673, rs1194574169, rs1560706958, rs2150736431, rs1283655166, rs2150737598, rs764074545, rs746020725, rs2150736865, rs2150738027, rs2150737953, rs2150736424, rs865920726, rs2150736648 View all (78 more)	RCV001826183 RCV005635136 RCV002493922 RCV005038181 RCV003473936 RCV001536057 RCV002488203 RCV004570961 RCV003473938 RCV001535889 RCV003474005 RCV001780675 RCV001781021 RCV003475173 RCV003475201 RCV005032015 RCV005607051 RCV003475251 RCV000001206 RCV000001207 RCV000001208 RCV000001209 RCV000001210 RCV003475408 RCV005034446 RCV003475457 RCV003135064 RCV004572883 RCV003474322 RCV003474323 RCV003474324 RCV003474325 RCV003474326 RCV003474327 RCV003474328 RCV003474329 RCV003474331 RCV003474332 RCV003474333 RCV003474334 RCV003474335 RCV003465041 RCV003465042 RCV005036884 RCV000675164 RCV000670073 RCV005036926 RCV004573207 RCV005036997 RCV005038617 RCV004574003 RCV004574004 RCV004574005 RCV004574006 RCV004574007 RCV004574009 RCV004574010 RCV004578003 RCV000412053 RCV000501494 RCV000503271 RCV001834777 RCV000669123 RCV000669945 RCV000665632 RCV000665397 RCV000671103 RCV000671801 RCV000672894 RCV000674221 RCV000670273 RCV000672380 RCV000673089 RCV000668241 RCV000674873 RCV000671784 RCV000665007 RCV000668856 RCV000671677 RCV000674776 RCV000673937 RCV000671908 RCV000665119 RCV000669174 RCV003473839 RCV001535937 RCV001830570 RCV001784348 RCV000855445 RCV003473708 RCV001281169 RCV003473802 RCV001281168
BBS12-related disorder	Likely pathogenic; Pathogenic	rs1283655166, rs587777803, rs752202089, rs1057517193, rs752762669, rs1397714772, rs769588983, rs1444062882, rs756061536, rs770872200, rs138011813, rs1560708847	RCV003416306 RCV003398410 RCV003418071 RCV004745367 RCV003419857 RCV004745546 RCV004745544 RCV004745545 RCV004745548 RCV004745547 RCV004745562 RCV003918665
Inability to walk	Pathogenic	rs121918327	RCV000626780
Polydactyly, postaxial, type A1	Pathogenic	rs121918327	RCV000626780
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121918328, rs587777803, rs770218590, rs752762669, rs1553941304, rs138011813, rs974173261, rs1560708847	RCV001073577 RCV001073576 RCV001073939 RCV001073940 RCV001075655 RCV001075675 RCV001075658 RCV001074774
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs752762669, rs1578491064	RCV000787787 RCV000787788
Visual impairment	Pathogenic	rs121918327	RCV000626780

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BBS12-related ciliopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs145392789, rs139278612, rs369878286	RCV005355670 RCV005356018 RCV005357789
Malignant lymphoma, large B-cell, diffuse	Benign	rs77997891	RCV005915586
Malignant tumor of esophagus	Benign	rs77997891	RCV005915585
Thymoma	Benign	rs77997891	RCV005915587
Uterine corpus endometrial carcinoma	Benign	rs77997891	RCV005915588

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)