| Gene Information | |
|---|---|
| Gene Name | BBS7 |
| Organism | Homo sapiens (Human) |
| Gene Length | 715 |
| Protein Names | Bardet-Biedl syndrome 7 protein (BBS2-like protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000138686 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q8IWZ6 |
| Gene Card | BBS7 |
| Uniprot ID | Q8IWZ6 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | no (-0.705672134) |
| Ortholog in Animals | Alpaca_ BBS7 ( ortholog_one2one ) Dog_ BBS7 ( ortholog_one2one ) GuineaPig_ BBS7 ( ortholog_one2one ) Macaque_ BBS7 ( ortholog_one2one ) Mouse_ Bbs7 ( ortholog_one2one ) Pig_ BBS7 ( ortholog_one2one ) Rat_ Bbs7 ( ortholog_one2one ) Rabbit_ BBS7 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.168520(Rat);0.121368(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs754579374 rs1553934343 rs119466002 rs889417696 rs119466001 rs1013002037 |
| Subcellular location [CC] | Cell projection, cilium membrane {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. Cytoplasm {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K2G4}. |
| Mouse PG classification | NA |
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