Bbs7 - Bardet-Biedl syndrome 7 (human) Gene
Also Known as 8430406N16Rik
Species: Mus musculus
Summary
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within several processes, including animal organ development; fat cell differentiation; and primary palate development. Located in several cellular components, including cytoskeleton; nucleus; and photoreceptor outer segment. Part of BBSome. Is expressed in several structures, including adrenal gland; central nervous system; eye; ovary; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7). [provided by Alliance of Genome Resources, Apr 2022]
Bbs7 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_027810.3 | NP_082086.2 | Bardet-Biedl syndrome 7 protein homolog |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within brain development |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| acts upstream of or within eye development |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| involved in fat cell differentiation |
IEP
IEP: Inferred from expression pattern
|
17379567 | MGI |
| acts upstream of or within heart development |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| acts upstream of or within limb development |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| acts upstream of or within primary palate development |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| acts upstream of or within protein localization |
IMP
IMP: Inferred from mutant phenotype
|
22228099 | MGI |
| acts upstream of or within smoothened signaling pathway |
IGI
IGI: Inferred from genetic interaction
|
22228099 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of BBSome |
IDA
IDA: Inferred from direct assay
|
20080638 | MGI |
| located in axoneme |
IDA
IDA: Inferred from direct assay
|
22302990 | MGI |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
22302990 | MGI |
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
22302990 | MGI |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
22139371 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
22302990 | MGI |
| located in photoreceptor outer segment |
IDA
IDA: Inferred from direct assay
|
23943788 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
Bardet-Biedl syndrome 7 protein homolog |
|