Version: 8.2.0Date: Wed Aug 27 2025
Category
bbs-4
(Caenorhabditis elegans)Gene
Name: BBS (Bardet-Biedl Syndrome) protein 4
Synonyms: CELE_F58A4.14, F58A4.14
Source: WB:WBGene00043992
Biotype: protein coding gene
Symbol: bbs-4 (Cel)
Symbol: bbs-4
Gene Synopsis: bbs-4 encodes the ortholog of human BBS4 and is paralogous to elegans bbs-8 and osm-5 which are all ciliary
Cross References: WB:bbs-4...bbs-4...bbs-4
BBS4
(Homo sapiens)Gene
Name: Bardet-Biedl syndrome 4
Synonyms: Bardet-Biedl syndrome 4 protein, BBSome complex member BBS4
Source: HGNC:969
Biotype: protein coding gene
Strict Orthology Symbols: bbs-4
Bbs4
(Rattus norvegicus)Gene
Name: Bardet-Biedl syndrome 4
Synonyms: LOC300754, Bardet-Biedl syndrome 4 homolog (human), Bardet-Biedl syndrome 4 homolog
Source: RGD:1309134
Biotype: protein coding gene
Strict Orthology Symbols: bbs-4
BBS4
(Drosophila melanogaster)Gene
Name: Bardet-Biedl syndrome 4
Synonyms: Bardet-Biedl syndrome 4 ortholog, CG13232
Source: FB:FBgn0033578
Biotype: protein coding gene
Strict Orthology Symbols: bbs-4
Bbs4
(Mus musculus)Gene
Name: Bardet-Biedl syndrome 4
Synonyms: AW537059, D9Ertd464e, expressed sequence AW742241, AW742241, expressed sequence AW537059, DNA segment, Chr 9, ERATO Doi 464, expressed
Source: MGI:2143311
Biotype: protein coding gene
Strict Orthology Symbols: bbs-4
bbs4
(Xenopus tropicalis)Gene
Name: Bardet-Biedl syndrome 4
Synonyms: Bardet-Biedl syndrome 4, bbs4
Source: Xenbase:XB-GENE-952107
Biotype: gene
Strict Orthology Symbols: bbs-4
Disease
Source: DOID:0110126
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0034464
Synonyms:
- Bardet-Biedl syndrome complex
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0000242
Synonyms: Not Available
Branch: cellular component
Genes: bbs-4 (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-4 (Cel)
Gene Ontology
Source: GO:0061512
Synonyms: Not Available
Branch: biological process
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0007098
Synonyms:
- centrosome organisation
- centrosome organization
Branch: biological process
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0060170
Synonyms:
- cilial membrane
- cilium membrane
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0030030
Synonyms:
- cell projection organisation
- cell projection organization and biogenesis
Branch: biological process
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0030674
Synonyms:
- protein binding, bridging
- protein complex scaffold activity
Branch: molecular function
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0036064
Synonyms:
- basal body
- cilial basal body
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0060271
Synonyms:
- ciliogenesis
- cilium biogenesis
Branch: biological process
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0005929
Synonyms:
- eukaryotic flagellum
- flagellum
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0005813
Synonyms: Not Available
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0015031
Synonyms:
- enzyme transport
Branch: biological process
Genes: bbs-4 (Cel)
(WBcel235)III:9609609C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609609C>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609609C>T
Gene Cross References: bbs-4
(WBcel235)III:9611347T>C
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9611347T>C
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9611347T>C
Gene Cross References: bbs-4
(WBcel235)III:9610968G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610968G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610968G>A
Gene Cross References: bbs-4
(WBcel235)III:9612123T>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9612123T>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9612123T>A
Gene Cross References: bbs-4
(WBcel235)III:9610145C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610145C>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610145C>T
Gene Cross References: bbs-4
(WBcel235)III:9609416A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609416A>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609416A>T
Gene Cross References: bbs-4
(WBcel235)III:9611389C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9611389C>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9611389C>T
Gene Cross References: bbs-4
(WBcel235)III:9609745T>G
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609745T>G
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609745T>G
Gene Cross References: bbs-4
(WBcel235)III:9612025G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9612025G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9612025G>A
Gene Cross References: bbs-4
(WBcel235)III:9610383A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610383A>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610383A>T
Gene Cross References: bbs-4
(WBcel235)III:9610025G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610025G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610025G>A
Gene Cross References: bbs-4
(WBcel235)III:9610168G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610168G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610168G>A
Gene Cross References: bbs-4
(WBcel235)III:9612122C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9612122C>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_donor_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9612122C>T
Gene Cross References: bbs-4
(WBcel235)III:9610863G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9610863G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9610863G>A
Gene Cross References: bbs-4
(WBcel235)III:9609827G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609827G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609827G>A
Gene Cross References: bbs-4
(WBcel235)III:9609879C>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609879C>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609879C>T
Gene Cross References: bbs-4
(WBcel235)III:9609410G>A
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609410G>A
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609410G>A
Gene Cross References: bbs-4
(WBcel235)III:9609424A>T
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9609424A>T
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9609424A>T
Gene Cross References: bbs-4
(WBcel235)III:9611290T>G
(Caenorhabditis elegans)Allele/Variant
Source: NC_003281.10:g.9611290T>G
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (WBcel235)III:9611290T>G
Gene Cross References: bbs-4
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-4 (Cel)
tm3038
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00251821
Genes: bbs-4 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: stop_lost, protein_altering_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: Not Available
Variant Name: Not Available
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0042995
Synonyms:
- cell process
- cellular process
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0005886
Synonyms:
- bacterial inner membrane
- cell membrane
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0016020
Synonyms:
- integral component of membrane
- integral to membrane
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0005856
Synonyms: Not Available
Branch: cellular component
Genes: bbs-4 (Cel)
Gene Ontology
Source: GO:0005737
Synonyms: Not Available
Branch: cellular component
Genes: bbs-4 (Cel)