Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BBS12 | contributors: mct/npt - updated : 21-12-2020 |
HGNC name | Bardet-Biedl syndrome 12 |
HGNC id | 26648 |
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Corresponding disease |
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Location | 4q27 Physical location : 123.653.856 - 123.666.097 | ||
Synonym name | chromosome 4 open reading frame 24 | ||
Synonym symbol(s) | C4orf24, FLJ35630, FLJ41559 |
DNA |
TYPE | functioning gene |
STRUCTURE | 44.50 kb 2 Exon(s) |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
HOMOLOGY |
intraspecies | homolog to BBS10, BBS6 |
Homologene |
FAMILY | |
|
CATEGORY | chaperone/stress |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component | part of a complex composed of three chaperonin-like BBS proteins (MKKS, BBS10, and BBS12) that are required for BBSome assembly (Seo 2010) |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | BBS12 inactivation facilitated adipogenesis, increased insulin sensitivity, and glucose utilization |
ASSOCIATED DISORDERS |
corresponding disease(s) | BBS12 |
Other morbid association(s) |
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Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |