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.	583
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS2
Synonyms (NCBI Gene) Gene synonyms aliases	BBS, RP74
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4784677	C>A,G,T	Benign, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs34191306	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs41280892	T>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs121908174	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908175	G>C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908176	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908177	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908178	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908179	T>G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908180	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908181	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854887	T>C	Pathogenic	Splice acceptor variant
rs138043021	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs141046144	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs147030232	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs193922710	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs193922711	A>-	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs201063733	G>C	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs201196733	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs376306240	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs567573386	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs587777824	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs587777825	C>G	Pathogenic	Splice acceptor variant
rs587777826	C>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs745951028	TTAAGGT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs746171104	C>-	Likely-pathogenic	Splice donor variant
rs762047808	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs764164384	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs767373822	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs770258677	G>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773417074	AA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773862084	C>A	Pathogenic, likely-pathogenic	Splice donor variant
rs777234811	C>A	Likely-pathogenic	Splice acceptor variant
rs777420525	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs778090540	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs778543585	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs779690256	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205498	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797044632	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045155	G>C,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025206	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs878962682	T>C,G	Likely-pathogenic	Splice acceptor variant
rs886039797	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886043059	C>A	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs1047075022	C>T	Likely-pathogenic	Splice donor variant
rs1166717771	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1273181642	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1367927635	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1368647604	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555520142	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555520220	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555520256	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555521379	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555521489	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555521501	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555522000	C>A	Likely-pathogenic	Splice acceptor variant
rs1555522252	->GA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555522893	A>C	Likely-pathogenic	Splice donor variant
rs1555523398	T>C	Pathogenic	Splice acceptor variant
rs1555523584	C>T	Likely-pathogenic	Splice donor variant
rs1555523964	CTCTGTAGAACAAATCCGAA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555524593	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567576202	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1597012997	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715808	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT715807	hsa-miR-433-3p	HITS-CLIP	19536157
MIRT715808	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT715807	hsa-miR-433-3p	HITS-CLIP	19536157
MIRT816866	hsa-miR-1269	CLIP-seq
MIRT816867	hsa-miR-1269b	CLIP-seq
MIRT816868	hsa-miR-4522	CLIP-seq
MIRT816869	hsa-miR-4529-3p	CLIP-seq
MIRT816870	hsa-miR-4714-5p	CLIP-seq
MIRT816871	hsa-miR-548p	CLIP-seq
MIRT1941548	hsa-miR-101	CLIP-seq
MIRT1941549	hsa-miR-154	CLIP-seq
MIRT1941550	hsa-miR-4291	CLIP-seq
MIRT1941551	hsa-miR-4709-5p	CLIP-seq
MIRT1941552	hsa-miR-4775	CLIP-seq
MIRT1941553	hsa-miR-545	CLIP-seq
MIRT1941549	hsa-miR-154	CLIP-seq
MIRT2180319	hsa-miR-3168	CLIP-seq
MIRT2180320	hsa-miR-4703-3p	CLIP-seq
MIRT2180321	hsa-miR-4717-3p	CLIP-seq
MIRT1941552	hsa-miR-4775	CLIP-seq

Show/Hide all(72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 16327777, 17574030, 18000879, 18762586, 20080638, 22139371, 22500027, 25416956, 25552655, 27173435, 28514442, 29039417, 32296183, 33144677, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005929	Component	Cilium	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	25541840
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021756	Process	Striatum development	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	ISS
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IDA	18299575
GO:0031514	Component	Motile cilium	IEA
GO:0032402	Process	Melanosome transport	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0033210	Process	Leptin-mediated signaling pathway	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034464	Component	BBSome	IBA
GO:0034464	Component	BBSome	IDA	17574030, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IMP	19150989
GO:0034464	Component	BBSome	IPI	19081074
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	18299575
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	19150989
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0044321	Process	Response to leptin	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
606151	967	ENSG00000125124

Protein

UniProt ID

Q9BXC9

Protein name

BBSome complex member BBS2 (Bardet-Biedl syndrome 2 protein)

Protein function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14781	BBS2_N	20 → 126	Ciliary BBSome complex subunit 2, N-terminal	Family
PF14783	BBS2_Mid	165 → 272	Ciliary BBSome complex subunit 2, middle region	Family
PF14782	BBS2_C	276 → 715	Ciliary BBSome complex subunit 2, C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQS
PLESDVSLLNINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGA
NAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELL
VGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMD
GHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAK
AELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAE
GIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRN
GGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKV
DEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKI
RCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S

Sequence length

721

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 2, Bardet-biedl syndrome 2/4, digenic, Bardet-biedl syndrome 2/6, digenic, Bardet-biedl syndrome 1/2, digenic	rs121908174, rs1555523964, rs1555522893, rs137854887, rs376306240, rs121908178, rs1555523584, rs745951028, rs773862084, rs764164384, rs567573386, rs1597012997, rs121908175, rs750506474, rs767373822 View all (48 more)	N/A
retinal dystrophy	Retinal dystrophy	rs376306240, rs773862084, rs567573386, rs138043021, rs750506474, rs764164384, rs1555520142, rs1273181642, rs121908178, rs121908175, rs878962682, rs1367927635, rs779690256, rs1555521379, rs121908180, rs147030232, rs544773389, rs121908177 View all (3 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs138043021, rs121908178, rs121908175, rs777420525, rs770258677, rs121908179, rs376306240	N/A

Show/Hide Unknown Diseases (3)

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.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amelogenesis imperfecta local hypoplastic form	Associate	36672825
Anodontia	Associate	36672825
Bardet Biedl Syndrome	Associate	10577922, 11179009, 12016587, 12567324, 12677556, 15666242, 24608809, 26078953, 26325687, 28143435, 31530639, 31951329, 33688495, 34364070, 36672825, 37031301 View all (1 more)
Capillary Malformation Arteriovenous Malformation	Associate	36672825
Carcinoma Neuroendocrine	Associate	31852810
Ciliopathies	Associate	28800606, 34365092
Coxa Valga	Associate	36672825
Developmental Disabilities	Associate	36672825
Ellis Van Creveld Syndrome	Associate	36672825
Hirschsprung Disease	Associate	19666486
Hydronephrosis	Associate	36672825
Hypogonadism	Associate	39175229
Intellectual Disability	Associate	39175229
Learning Disabilities	Associate	31951329
Multicystic Dysplastic Kidney	Associate	37208928
Multicystic renal dysplasia bilateral	Associate	36672825
Myopia	Associate	36672825
Neointima	Associate	36672825
Nystagmus Pathologic	Associate	39175229
Obesity	Associate	36672825, 37329217, 39175229
Polydactyly	Associate	36672825
Psychotic Disorders	Associate	18762586
Pyometra	Associate	36672825
Retinal Diseases	Associate	31877759
Retinal Dystrophies	Associate	25133751
Retinitis Pigmentosa	Associate	25999675, 36672825, 39175229
Taurodontism	Associate	36672825
Vaginitis	Associate	36672825
Vision Disorders	Associate	37031301
Vision Low	Associate	39175229

BBS2 (Bardet-Biedl syndrome 2)