Version: 8.1.0Date: Fri Apr 18 2025
Category
bbs-2
(Caenorhabditis elegans)Gene
Name: BBS (Bardet-Biedl Syndrome) protein 2
Synonyms: F20D12.3, CELE_F20D12.3
Source: WB:WBGene00000242
Biotype: protein coding gene
Symbol: bbs-2 (Cel)
Symbol: bbs-2
Gene Synopsis: bbs-2 encodes a ciliary protein that is orthologous to human BBS2; bbs-2 is expressed exclusively in...transition zone and along the axoneme; BBS proteins are required for ciliary structure and function; BBS
Cross References: WB:bbs-2...bbs-2...bbs-2
BBS2
(Homo sapiens)Gene
Name: Bardet-Biedl syndrome 2
Synonyms: Bardet-Biedl syndrome 2 protein, BBS, MGC20703, bardet-biedl syndrome 2 (human), BBSome complex member BBS2, RP74
Source: HGNC:967
Biotype: protein coding gene
Strict Orthology Symbols: bbs-2
bbs2
(Danio rerio)Gene
Name: Bardet-Biedl syndrome 2
Synonyms: fb80a05, wu:fb80a05
Source: ZFIN:ZDB-GENE-020801-1
Biotype: protein coding gene
Strict Orthology Symbols: bbs-2
Bbs2
(Mus musculus)Gene
Name: Bardet-Biedl syndrome 2
Synonyms: 2410125H22Rik, RIKEN cDNA 2410125H22 gene, AI447581, expressed sequence AI447581
Source: MGI:2135267
Biotype: protein coding gene
Strict Orthology Symbols: bbs-2
Bbs2
(Rattus norvegicus)Gene
Name: Bardet-Biedl syndrome 2
Synonyms: Bardet-Biedl syndrome 2 homolog (human), bardet-biedl syndrome 2 (human), Bardet-Biedl syndrome 2 homolog, BBSome complex member BBS2, bardet-Biedl syndrome 2 protein homolog
Source: RGD:71091
Biotype: protein coding gene
Strict Orthology Symbols: bbs-2
bbs2
(Xenopus tropicalis)Gene
Name: Bardet-Biedl syndrome 2
Synonyms: bbs2, Bardet-Biedl syndrome 2
Source: Xenbase:XB-GENE-921947
Biotype: gene
Strict Orthology Symbols: bbs-2
VC1168
(Caenorhabditis elegans)Model
Id: WB:WBStrain00036384
Synonyms: Not Available
Genes: bbs-2 (Cel)
gk544
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00145912
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Genes: bbs-2 (Cel)
Disease
Source: DOID:0110124
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
Genes: bbs-2 (Cel)
Disease
Source: DOID:0110401
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0034464
Synonyms:
- Bardet-Biedl syndrome complex
Branch: cellular component
Genes: bbs-2 (Cel)
Disease
Source: DOID:1935
Definition: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:1905515
Synonyms:
- immotile primary cilium assembly
- non-motile cilium formation
Branch: biological process
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0030030
Synonyms:
- cell projection organisation
- cell projection organization and biogenesis
Branch: biological process
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0031514
Synonyms:
- microtubule-based flagellum
- motile cilia
Branch: cellular component
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0060271
Synonyms:
- ciliogenesis
- cilium biogenesis
Branch: biological process
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0036064
Synonyms:
- basal body
- cilial basal body
Branch: cellular component
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0043005
Synonyms:
- nerve fiber
- neurite
Branch: cellular component
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0005929
Synonyms:
- eukaryotic flagellum
- flagellum
Branch: cellular component
Genes: bbs-2 (Cel)
(WBcel235)IV:7934185C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934185C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934185C>T
Gene Cross References: bbs-2
(WBcel235)IV:7934238T>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934238T>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934238T>A
Gene Cross References: bbs-2
Gene Ontology
Source: GO:0015031
Synonyms:
- enzyme transport
Branch: biological process
Genes: bbs-2 (Cel)
(WBcel235)IV:7934517T>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934517T>C
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934517T>C
Gene Cross References: bbs-2
(WBcel235)IV:7934642C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934642C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934642C>T
Gene Cross References: bbs-2
(WBcel235)IV:7934664G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934664G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934664G>A
Gene Cross References: bbs-2
(WBcel235)IV:7935520C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935520C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935520C>T
Gene Cross References: bbs-2
(WBcel235)IV:7936649T>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936649T>C
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936649T>C
Gene Cross References: bbs-2
(WBcel235)IV:7936897C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936897C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936897C>T
Gene Cross References: bbs-2
(WBcel235)IV:7936899C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936899C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936899C>T
Gene Cross References: bbs-2
(WBcel235)IV:7936429A>G
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936429A>G
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936429A>G
Gene Cross References: bbs-2
(WBcel235)IV:7934227T>G
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934227T>G
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934227T>G
Gene Cross References: bbs-2
(WBcel235)IV:7935696C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935696C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935696C>T
Gene Cross References: bbs-2
(WBcel235)IV:7936483G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936483G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936483G>A
Gene Cross References: bbs-2
(WBcel235)IV:7936975T>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936975T>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936975T>A
Gene Cross References: bbs-2
(WBcel235)IV:7934793G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934793G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934793G>A
Gene Cross References: bbs-2
(WBcel235)IV:7934867A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934867A>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934867A>T
Gene Cross References: bbs-2
(WBcel235)IV:7935574A>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935574A>C
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935574A>C
Gene Cross References: bbs-2
(WBcel235)IV:7936576G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936576G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936576G>A
Gene Cross References: bbs-2
(WBcel235)IV:7934615T>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934615T>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934615T>A
Gene Cross References: bbs-2
(WBcel235)IV:7935630G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935630G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935630G>A
Gene Cross References: bbs-2
(WBcel235)IV:7936383G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936383G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936383G>A
Gene Cross References: bbs-2
(WBcel235)IV:7936385C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936385C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936385C>T
Gene Cross References: bbs-2
(WBcel235)IV:7937067C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7937067C>T
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7937067C>T
Gene Cross References: bbs-2
(WBcel235)IV:7936386C>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7936386C>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7936386C>A
Gene Cross References: bbs-2
(WBcel235)IV:7935083G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935083G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935083G>A
Gene Cross References: bbs-2
(WBcel235)IV:7934175G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7934175G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7934175G>A
Gene Cross References: bbs-2
(WBcel235)IV:7935162A>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935162A>C
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935162A>C
Gene Cross References: bbs-2
(WBcel235)IV:7935738G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003282.8:g.7935738G>A
Genes: bbs-2 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)IV:7935738G>A
Gene Cross References: bbs-2
Disease
Source: DOID:9970
Definition: An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
Genes: bbs-2 (Cel)
Gene Ontology
Source: GO:0005856
Synonyms: Not Available
Branch: cellular component
Genes: bbs-2 (Cel)