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| # | Reference Title | Reference Citation |
| 1. | Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. | Benzinou M, etal., Diabetes. 2006 Oct;55(10):2876-82. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. | Kwitek-Black AE, etal., Nat Genet 1993 Dec;5(4):392-6. |
| 4. | Gene Data Set | MGD Curation, June 12, 2002 |
| 5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 6. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 7. | Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). | Nishimura DY, etal., Hum Mol Genet 2001 Apr 1;10(8):865-74. |
| 8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 9. | GOA pipeline | RGD automated data pipeline |
| 10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 12. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 13. | Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia. | Soetedjo L, etal., Biol Open. 2013 May 23;2(7):686-94. doi: 10.1242/bio.20134747. Print 2013 Jul 15. |
| PMID:15539463 | PMID:17379567 | PMID:17574030 | PMID:18032602 | PMID:18299575 | PMID:18317593 | PMID:18334641 | PMID:19150989 | PMID:19195025 | PMID:20080638 | PMID:20852044 | PMID:22072986 |
| PMID:22139371 | PMID:22228099 | PMID:22302990 | PMID:22500027 | PMID:24550735 | PMID:25541840 | PMID:25605782 |
| Bbs2 (Rattus norvegicus - Norway rat) |
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| BBS2 (Homo sapiens - human) |
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| Bbs2 (Mus musculus - house mouse) |
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| Bbs2 (Chinchilla lanigera - long-tailed chinchilla) |
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| BBS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BBS2 (Canis lupus familiaris - dog) |
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| Bbs2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BBS2 (Sus scrofa - pig) |
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| BBS2 (Chlorocebus sabaeus - green monkey) |
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| Bbs2 (Heterocephalus glaber - naked mole-rat) |
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| Bbs2 (Rattus rattus - black rat) |
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.
Variants in Bbs2
130 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH131221 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_053618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006255131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008772263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039097425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063277732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF342738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ222286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000026076 ⟹ ENSRNOP00000026076 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000106411 ⟹ ENSRNOP00000087643 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000114302 ⟹ ENSRNOP00000087717 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_053618 ⟹ NP_446070 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006255131 ⟹ XP_006255193 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039097425 ⟹ XP_038953353 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063277732 ⟹ XP_063133802 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_446070 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006255193 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038953353 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063133802 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAK28554 | (Get FASTA) | NCBI Sequence Viewer |
| EDL87354 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000026076 | ||
| ENSRNOP00000026076.2 | |||
| ENSRNOP00000087643 | |||
| GenBank Protein | Q99MH9 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_446070 ⟸ NM_053618 |
| - UniProtKB: | Q99MH9 (UniProtKB/Swiss-Prot), A6JY76 (UniProtKB/TrEMBL), A0A8I6A3J2 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006255193 ⟸ XM_006255131 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I6A3J2 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000026076 ⟸ ENSRNOT00000026076 |
| RefSeq Acc Id: | XP_038953353 ⟸ XM_039097425 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6A6C7 (UniProtKB/TrEMBL), A0A8I6A3J2 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000087717 ⟸ ENSRNOT00000114302 |
| Ensembl Acc Id: | ENSRNOP00000087643 ⟸ ENSRNOT00000106411 |
| RefSeq Acc Id: | XP_063133802 ⟸ XM_063277732 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6A3J2 (UniProtKB/TrEMBL), A0A8I6A6C7 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q99MH9-F1-model_v2 | AlphaFold | Q99MH9 | 1-721 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13700953 | ||||||||
| Promoter ID: | EPDNEW_R11477 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Bbs2_1 | ||||||||
| Description: | Bardet-Biedl syndrome 2 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:71091 | AgrOrtholog |
| BioCyc Gene | G2FUF-6471 | BioCyc |
| Ensembl Genes | ENSRNOG00000019020 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000026076 | ENTREZGENE |
| ENSRNOT00000026076.4 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000106411 | ENTREZGENE | |
| InterPro | Bardet-Biedl_syndrome_2_prot | UniProtKB/Swiss-Prot |
| BBS2_C | UniProtKB/Swiss-Prot | |
| BBS2_CtH_dom | UniProtKB/Swiss-Prot | |
| BBS2_hp_dom | UniProtKB/Swiss-Prot | |
| BBS2_Mid | UniProtKB/Swiss-Prot | |
| BBS2_N | UniProtKB/Swiss-Prot | |
| BBS2_pf_dom | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:113948 | UniProtKB/Swiss-Prot |
| NCBI Gene | 113948 | ENTREZGENE |
| PANTHER | BARDET-BIEDL SYNDROME 2 PROTEIN | UniProtKB/Swiss-Prot |
| PTHR32465 | UniProtKB/Swiss-Prot | |
| Pfam | BBS2_C | UniProtKB/Swiss-Prot |
| BBS2_CtH | UniProtKB/Swiss-Prot | |
| BBS2_hp | UniProtKB/Swiss-Prot | |
| BBS2_Mid | UniProtKB/Swiss-Prot | |
| BBS2_N | UniProtKB/Swiss-Prot | |
| BBS2_pf | UniProtKB/Swiss-Prot | |
| PhenoGen | Bbs2 | PhenoGen |
| PIRSF | BBS2 | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000019020 | RatGTEx |
| Superfamily-SCOP | SSF50978 | UniProtKB/Swiss-Prot |
| UniProt | A0A8I6A3J2 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6A6C7 | ENTREZGENE | |
| A6JY76 | ENTREZGENE, UniProtKB/TrEMBL | |
| BBS2_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2009-11-05 | Bbs2 | Bardet-Biedl syndrome 2 | Bbs2 | Bardet-Biedl syndrome 2 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-02 | Bardet-Biedl syndrome 2 homolog (human) | Bbs2 | Bardet-Biedl syndrome 2 (human) | Name updated | 1299863 | APPROVED | |
| 2002-07-09 | Bbs2 | Bardet-Biedl syndrome 2 (human) | Symbol and Name updated to reflect Human and Mouse nomenclature | 70877 | APPROVED |
| Note Type | Note | Reference |
|---|