Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BBS5 | contributors: mct/npt - updated : 15-12-2020 |
HGNC name | Bardet-Biedl syndrome 5 |
HGNC id | 970 |
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Corresponding disease |
| ||
Location | 2q31.1 Physical location : 170.336.005 - 170.363.164 | ||
Synonym symbol(s) | DKFZp762I194 |
DNA |
TYPE | functioning gene |
STRUCTURE | 27.16 kb 12 Exon(s) |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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text | alternate transcriptional splice variants |
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EXPRESSION |
Type |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
HOMOLOGY |
interspecies | ortholog to murine Bbs5 |
ortholog to rattus Bbs5_predicted |
intraspecies | homolog to BBS1 |
Homologene |
FAMILY |
CATEGORY | regulatory |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,cytosolic | |
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome | |
intracellular,nucleus | |
text | basal bodies |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | development |
PATHWAY |
metabolism |
signaling | sensory transduction/vision |
a component | part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium (Nachury 2007) |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | BBS5 |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |