Bbs2 (Bardet-Biedl syndrome 2) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Bbs2 (Bardet-Biedl syndrome 2) Mus musculus
Analyze
Symbol: Bbs2
Name: Bardet-Biedl syndrome 2
RGD ID: 732436
MGI Page MGI
Description: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Located in several cellular components, including microvillus; motile cilium; and stereocilium. Part of BBSome. Is expressed in central nervous system; early embryo; and retina. Used to study Bardet-Biedl syndrome 2. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2410125H22Rik; AI447581; Bardet-Biedl syndrome 2 (human); Bardet-Biedl syndrome 2 homolog; Bardet-Biedl syndrome 2 protein homolog; BBSome complex member BBS2
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39894,794,580 - 94,825,997 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl894,794,582 - 94,825,556 (-)EnsemblGRCm39 Ensembl
GRCm38894,067,952 - 94,099,369 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,067,954 - 94,098,928 (-)EnsemblGRCm38mm10GRCm38
MGSCv37896,591,854 - 96,622,711 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36896,957,083 - 96,987,940 (-)NCBIMGSCv36mm8
Celera898,399,207 - 98,430,064 (-)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.14NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (ISO)
2-methylcholine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (ISO)
Aroclor 1254  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (EXP)
CGP 52608  (ISO)
chlorpyrifos  (EXP)
chromium(6+)  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
cyclosporin A  (ISO)
Dibutyl phosphate  (ISO)
disulfiram  (ISO)
doxorubicin  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
fulvestrant  (ISO)
glafenine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
menadione  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (ISO)
niclosamide  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (ISO)
rac-lactic acid  (ISO)
resveratrol  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
tributylstannane  (ISO)
triphenyl phosphate  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
BBSome  (IBA,IDA,ISO)
centriolar satellite  (IEA)
ciliary basal body  (IBA,ISO)
ciliary membrane  (ISO)
cytoplasm  (IEA)
membrane  (IBA,IDA)
microvillus  (IDA)
motile cilium  (IBA,IMP,ISO)
neuron projection  (IBA,IDA)
stereocilium  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal abdominal fat pad morphology  (IAGP)
abnormal basal ganglion morphology  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal olfaction  (IAGP)
abnormal olfactory epithelium cilium morphology  (IAGP)
abnormal olfactory epithelium morphology  (IAGP)
abnormal placing response  (IAGP)
abnormal primary cilium morphology  (IAGP)
absent sperm flagellum  (IAGP)
anosmia  (IAGP)
decreased aggression  (IAGP)
decreased birth body size  (IAGP)
decreased body size  (IAGP)
decreased lean body mass  (IEA)
decreased retina cone cell number  (IAGP)
decreased retina rod cell number  (IAGP)
decreased salivation  (IAGP)
decreased startle reflex  (IAGP)
disorganized photoreceptor outer segment  (IAGP)
enlarged lateral ventricles  (IAGP)
enlarged third ventricle  (IAGP)
hepatic steatosis  (IAGP)
hyporesponsive to tactile stimuli  (IAGP)
increased body mass index  (IAGP)
increased body weight  (IAGP)
increased bone mineral content  (IEA)
increased ceramide level  (IAGP)
increased circulating alanine transaminase level  (IAGP)
increased circulating leptin level  (IAGP)
increased circulating triglyceride level  (IAGP)
increased fat cell size  (IAGP)
increased liver weight  (IAGP)
increased susceptibility to age-related retinal degeneration  (IAGP)
increased total body fat amount  (IAGP)
kidney cyst  (IAGP)
male infertility  (IAGP)
no abnormal phenotype detected  (IAGP)
obese  (IAGP)
polyphagia  (IAGP)
retina outer nuclear layer degeneration  (IAGP)
small hippocampus  (IAGP)
thin cerebral cortex  (IAGP)
thin retina outer nuclear layer  (IAGP)
References

References - curated
# 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. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
3. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. 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.
7. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Mouse MP Annotation Import Pipeline RGD automated import 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
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10922068   PMID:11042159   PMID:11076861   PMID:12477932   PMID:12524598   PMID:12567324   PMID:14610273   PMID:15226823   PMID:15489334   PMID:15539463  
PMID:16141072   PMID:16141073   PMID:16602821   PMID:16823392   PMID:17062627   PMID:17379567   PMID:18032602   PMID:18299575   PMID:18317593   PMID:18334641   PMID:19081074   PMID:19150989  
PMID:19195025   PMID:20080638   PMID:20603001   PMID:20852044   PMID:21106857   PMID:21152952   PMID:21731673   PMID:21873635   PMID:22072986   PMID:22139371   PMID:22228099   PMID:22500027  
PMID:22922713   PMID:24550735   PMID:25504142   PMID:25605782   PMID:26103456   PMID:27979967   PMID:31690665   PMID:32290105   PMID:32325033   PMID:32433491   PMID:32620959   PMID:34321999  
PMID:38355793  


Genomics

Comparative Map Data
Bbs2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39894,794,580 - 94,825,997 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl894,794,582 - 94,825,556 (-)EnsemblGRCm39 Ensembl
GRCm38894,067,952 - 94,099,369 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,067,954 - 94,098,928 (-)EnsemblGRCm38mm10GRCm38
MGSCv37896,591,854 - 96,622,711 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36896,957,083 - 96,987,940 (-)NCBIMGSCv36mm8
Celera898,399,207 - 98,430,064 (-)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.14NCBI
BBS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381656,470,403 - 56,520,024 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1656,465,640 - 56,582,667 (-)EnsemblGRCh38hg38GRCh38
GRCh371656,504,315 - 56,553,936 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,075,798 - 55,111,696 (-)NCBINCBI36Build 36hg18NCBI36
Build 341655,075,798 - 55,111,696NCBI
Celera1641,016,278 - 41,052,025 (-)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1642,388,684 - 42,424,427 (-)NCBIHuRef
CHM1_11657,925,275 - 57,961,074 (-)NCBICHM1_1
T2T-CHM13v2.01662,265,473 - 62,315,098 (-)NCBIT2T-CHM13v2.0
Bbs2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,915,566 - 10,950,911 (+)NCBIGRCr8
mRatBN7.21910,909,653 - 10,944,998 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,909,619 - 10,944,993 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1910,879,554 - 10,915,000 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01911,644,727 - 11,680,171 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,931,731 - 10,967,176 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01911,385,921 - 11,421,523 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1911,386,024 - 11,421,498 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01911,360,477 - 11,395,956 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41911,347,432 - 11,382,830 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11911,352,257 - 11,387,656 (+)NCBI
Celera1910,794,343 - 10,829,641 (+)NCBICelera
Cytogenetic Map19p12NCBI
Bbs2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543314,266,190 - 14,296,929 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543314,266,190 - 14,321,780 (-)NCBIChiLan1.0ChiLan1.0
BBS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21865,952,091 - 66,003,137 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11671,871,011 - 71,921,964 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01636,756,699 - 36,807,652 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11655,902,945 - 55,940,053 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1655,902,945 - 55,940,053 (-)Ensemblpanpan1.1panPan2
BBS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1259,650,439 - 59,705,728 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl259,677,216 - 59,705,730 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha256,308,316 - 56,339,418 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0260,219,421 - 60,250,791 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl260,219,416 - 60,250,791 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1257,050,041 - 57,081,142 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0258,058,880 - 58,089,986 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,951,859 - 58,982,967 (+)NCBIUU_Cfam_GSD_1.0
Bbs2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,759,978 - 50,803,324 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364758,785,154 - 8,810,541 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364758,785,914 - 8,810,490 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl618,542,386 - 18,575,514 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1618,542,383 - 18,575,338 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2626,446,675 - 26,473,875 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BBS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1542,395,387 - 42,430,204 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl542,395,230 - 42,430,154 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604733,933,967 - 33,969,228 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bbs2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475755,811 - 88,562 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475755,861 - 88,703 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bbs2
2565 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:324
Count of miRNA genes:235
Interacting mature miRNAs:260
Transcripts:ENSMUST00000034206, ENSMUST00000170208, ENSMUST00000172347
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10043992Hbnr11_mHeligmosomoides bakeri nematode resistance 11 (mouse)Not determined866326836100326976Mouse
1357470Obq16_mobesity QTL 16 (mouse)Not determined876411976110412125Mouse
1558875Eae31_mexperimental allergic encephalomyelitis susceptibility 31 (mouse)Not determined835109930115563747Mouse
1357787Vtbt5_mvertebral trabecular bone trait 5 (mouse)Not determined866084397100084549Mouse
1301767Fcsa2_mfemoral cross-sectional area 2 (mouse)Not determined871032003105032123Mouse
10412234Nhdlq14_mnon-HDL QTL 14 (mouse)Not determined876411976110412125Mouse
1301766Desp1_mdespair 1 (mouse)Not determined885486208119486373Mouse
1301253Skmw2_mskeletal muscle weight 2 (mouse)Not determined886443553120443701Mouse
4140967Bmd39_mbone mineral density 39 (mouse)Not determined832506572117965439Mouse
1357708Orq1_movulation rate QTL 1 (mouse)Not determined871740461124622354Mouse
4141285Tgq18_mtriglyceride QTL 18 (mouse)Not determined6418673698186736Mouse
4141797Skmw16_mskeletal muscle weight 16 (mouse)Not determined86466617698666325Mouse
10755519Wbc1_mwhite blood cell count 1 (mouse)882345783116345783Mouse
27226754Femd6_mfemur midshaft diameter 6, 10 week (mouse)837867154110326632Mouse
1301581Char2_mP. chabaudi malaria resistance QTL 2 (mouse)Not determined879808806113809031Mouse
1301874Hdlq16_mHDL QTL 16 (mouse)Not determined876411976110412125Mouse
1301872Cd4ts3_mCD4 T cell subset 3 (mouse)Not determined872122809106123021Mouse
10045619Heal14_mwound healing/regeneration 14 (mouse)Not determined886443553120443701Mouse
1301688Orch6_mautoimmune orchitis resistance 6 (mouse)Not determined86151347995513605Mouse
1558780Idd22_minsulin dependent diabetes susceptibility 22 (mouse)Not determined871829531105829637Mouse
1300920Pitm3_mprion incubation time 3 (mouse)Not determined873929123107929226Mouse
12904744Carcdq1_mcardiac collagen deposition QTL 1 (mouse)84016229795416226Mouse
10755530Wbc2_mwhite blood cell count 2 (mouse)881819296115819296Mouse
1302049Heal1_mwound healing/regeneration 1 (mouse)Not determined886443553120443701Mouse
27226796Scvln16_msacral vertebrae length 2, 16 week (mouse)889726628130027694Mouse
4142283Imraq2_mimmune response to AAV2 QTL 2 (mouse)Not determined871032003105032123Mouse
27095912Pglq14_mpelvic girdle length QTL 14, 16 week (mouse)874126628126826739Mouse
4142023W3q5_mweight 3 weeks QTL 5 (mouse)Not determined71740461124622354Mouse
1301099Cbm2_mcerebellum weight 2 (mouse)Not determined879245241113245331Mouse
1558890Lith18_mlithogenic gene 18 (mouse)Not determined876402145110402251Mouse

Markers in Region
AW061076  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38894,067,668 - 94,067,808UniSTSGRCm38
MGSCv37896,591,568 - 96,591,708UniSTSGRCm37
Celera898,398,921 - 98,399,061UniSTS
Cytogenetic Map8C5UniSTS
Whitehead/MRC_RH81148.74UniSTS
D8Mit209  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38894,097,044 - 94,097,187UniSTSGRCm38
MGSCv37896,620,944 - 96,621,087UniSTSGRCm37
Celera898,428,297 - 98,428,440UniSTS
Cytogenetic Map8C5UniSTS
cM Map843.0UniSTS
Whitehead Genetic842.6UniSTS
AI447581  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38894,068,179 - 94,068,331UniSTSGRCm38
MGSCv37896,592,079 - 96,592,231UniSTSGRCm37
Celera898,399,432 - 98,399,584UniSTS
Cytogenetic Map8C5UniSTS
Whitehead/MRC_RH81149.68UniSTS
UniSTS:235971  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38894,067,569 - 94,067,769UniSTSGRCm38
MGSCv37896,591,469 - 96,591,669UniSTSGRCm37
Celera898,398,822 - 98,399,022UniSTS
Cytogenetic Map8C5UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000034206   ⟹   ENSMUSP00000034206
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl894,794,582 - 94,825,556 (-)Ensembl
GRCm38.p6 Ensembl894,067,954 - 94,098,928 (-)Ensembl
Ensembl Acc Id: ENSMUST00000170208
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl894,794,772 - 94,796,841 (-)Ensembl
GRCm38.p6 Ensembl894,068,144 - 94,070,213 (-)Ensembl
Ensembl Acc Id: ENSMUST00000172347
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl894,801,768 - 94,806,384 (-)Ensembl
GRCm38.p6 Ensembl894,075,140 - 94,079,756 (-)Ensembl
RefSeq Acc Id: NM_026116   ⟹   NP_080392
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39894,794,580 - 94,825,137 (-)NCBI
GRCm38894,067,952 - 94,098,509 (-)NCBI
MGSCv37896,591,854 - 96,622,711 (-)RGD
Celera898,399,207 - 98,430,064 (-)RGD
cM Map8 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_030243735   ⟹   XP_030099595
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39894,794,582 - 94,822,988 (-)NCBI
GRCm38894,067,958 - 94,096,360 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001778463
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39894,794,585 - 94,825,997 (-)NCBI
GRCm38894,067,958 - 94,099,369 (-)NCBI
Sequence:
RefSeq Acc Id: XR_004934872
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39894,794,586 - 94,825,997 (-)NCBI
Sequence:
RefSeq Acc Id: NP_080392   ⟸   NM_026116
- UniProtKB: Q9CWF6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_030099595   ⟸   XM_030243735
- Peptide Label: isoform X1
Ensembl Acc Id: ENSMUSP00000034206   ⟸   ENSMUST00000034206
Protein Domains
Ciliary BBSome complex subunit 2 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9CWF6-F1-model_v2 AlphaFold Q9CWF6 1-721 view protein structure

Promoters
RGD ID:6842827
Promoter ID:MM_KWN:55316
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_026116
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36896,622,436 - 96,623,272 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2135267 AgrOrtholog
Ensembl Genes ENSMUSG00000031755 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000034206 ENTREZGENE
  ENSMUST00000034206.6 UniProtKB/Swiss-Prot
InterPro Bardet-Biedl_syndrome_2_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBS2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBS2_Mid UniProtKB/Swiss-Prot
  BBS2_N UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report mmu:67378 UniProtKB/Swiss-Prot
MGD MGI:2135267 ENTREZGENE
NCBI Gene 67378 ENTREZGENE
PANTHER BARDET-BIEDL SYNDROME 2 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR32465 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BBS2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBS2_Mid UniProtKB/Swiss-Prot
  BBS2_N UniProtKB/Swiss-Prot
PhenoGen Bbs2 PhenoGen
PIRSF BBS2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
UniProt BBS2_MOUSE UniProtKB/Swiss-Prot
  Q8C1M6_MOUSE UniProtKB/TrEMBL
  Q9CWF6 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-07-04 Bbs2  Bardet-Biedl syndrome 2  Bbs2  Bardet-Biedl syndrome 2 (human)  Symbol and/or name change 5135510 APPROVED