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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs121918327	RCV000626780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1397714772	RCV001814214	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (106 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic	rs2150737232, rs121918327, rs2485077774	RCV003229072 RCV003228891 RCV003229561	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (88 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS12-related disorder	Likely pathogenic; Pathogenic	rs1283655166, rs587777803, rs752202089, rs1057517193, rs752762669, rs1397714772, rs769588983, rs1444062882, rs756061536, rs770872200, rs138011813, rs1560708847	RCV003416306 RCV003398410 RCV003418071 RCV004745367 RCV003419857 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inability to walk	Pathogenic	rs121918327	RCV000626780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly, postaxial, type A1	Pathogenic	rs121918327	RCV000626780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121918328, rs587777803, rs770218590, rs752762669, rs1553941304, rs138011813, rs974173261, rs1560708847	RCV001073577 RCV001073576 RCV001073939 RCV001073940 RCV001075655 RCV001075675 RCV001075658 RCV001074774 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs752762669, rs1578491064	RCV000787787 RCV000787788	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual impairment	Pathogenic	rs121918327	RCV000626780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BBS12-related ciliopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anus Imperforate	Imperforate anus	Pubtator	33369054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	17160889, 20080638, 20498079, 20827784, 21642631, 23591405, 24611592, 30614526		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	19093007, 20080638, 20472660, 22500027, 25533820, 28824921, 29633607, 30312873		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 12	Bardet-Biedl Syndrome	CLINVAR_DG	17160889, 20648243, 20827784, 21642631, 24611592, 25133751		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 12	Bardet-Biedl Syndrome	UNIPROT_DG	17160889, 20080638, 20120035, 21344540		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 12	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	17160889		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 12	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	29954368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	20876674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26082521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20876674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20876674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	20472660, 28824921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26900326		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	26082521		★★★★★ ★☆☆☆☆ Found in Text Mining only

BBS12 (Bardet-Biedl syndrome 12)