Bbs4 (Bardet-Biedl syndrome 4) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Bbs4 (Bardet-Biedl syndrome 4) Mus musculus
Analyze
Symbol: Bbs4
Name: Bardet-Biedl syndrome 4
RGD ID: 1319307
MGI Page MGI
Description: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor 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 cilium assembly; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AW537059; AW742241; Bardet-Biedl syndrome 4 (human); Bardet-Biedl syndrome 4 homolog; Bardet-Biedl syndrome 4 protein homolog; BBSome complex member BBS4; D9Ertd464; D9Ertd464e
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
GRCm39959,229,249 - 59,260,791 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl959,229,273 - 59,260,791 (-)EnsemblGRCm39 Ensembl
GRCm38959,321,966 - 59,353,508 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,321,990 - 59,353,508 (-)EnsemblGRCm38mm10GRCm38
MGSCv37959,169,773 - 59,201,315 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36959,119,972 - 59,151,466 (-)NCBIMGSCv36mm8
Celera956,549,258 - 56,580,867 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.01NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adipose tissue development  (IMP)
adult behavior  (IMP)
B cell homeostasis  (IMP)
brain morphogenesis  (IMP)
centrosome cycle  (ISO,ISS)
cerebral cortex development  (IMP)
cilium assembly  (IBA,IMP,NAS)
dendrite development  (IMP)
erythrocyte homeostasis  (IMP)
face development  (IMP)
fat cell differentiation  (IEP)
fat pad development  (IMP)
gene expression  (IMP)
hippocampus development  (IMP)
homeostasis of number of cells  (IMP)
leptin-mediated signaling pathway  (IMP)
leukocyte homeostasis  (IMP)
lymphocyte homeostasis  (IMP)
maintenance of protein location in nucleus  (IEA,ISO)
microtubule anchoring at centrosome  (IEA,ISO)
microtubule cytoskeleton organization  (IMP)
mitotic cytokinesis  (IEA,ISO)
myeloid cell homeostasis  (IMP)
negative regulation of actin filament polymerization  (IMP)
negative regulation of appetite by leptin-mediated signaling pathway  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of GTPase activity  (IMP)
negative regulation of systemic arterial blood pressure  (IMP)
neural tube closure  (IMP)
neuron migration  (IGI,IMP)
non-motile cilium assembly  (IMP)
photoreceptor cell maintenance  (IGI,IMP)
photoreceptor cell outer segment organization  (IMP)
positive regulation of cilium assembly  (IMP)
positive regulation of multicellular organism growth  (IMP)
protein localization  (IMP)
protein localization to centrosome  (IEA,ISO)
protein localization to cilium  (IBA)
protein localization to organelle  (IDA)
protein localization to photoreceptor outer segment  (IMP)
protein transport  (IEA)
regulation of cilium beat frequency involved in ciliary motility  (IMP)
regulation of cytokinesis  (IEA,ISO)
regulation of lipid metabolic process  (IMP)
regulation of non-motile cilium assembly  (IMP)
regulation of stress fiber assembly  (IMP)
response to leptin  (IMP)
retina homeostasis  (IMP)
retinal rod cell development  (IMP)
sensory perception of smell  (IMP)
social behavior  (IMP)
sperm flagellum assembly  (IMP)
spermatid development  (IMP)
striatum development  (IMP)
ventricular system development  (IMP)
Wnt signaling pathway  (IMP)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal basal ganglion morphology  (IAGP)
abnormal blood homeostasis  (IAGP)
abnormal circulating hormone level  (IAGP)
abnormal circulating lipid level  (IAGP)
abnormal circulating mineral level  (IAGP)
abnormal cone electrophysiology  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal liver morphology  (IAGP)
abnormal liver physiology  (IAGP)
abnormal miniature excitatory postsynaptic currents  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal ocular fundus morphology  (IAGP)
abnormal olfaction  (IAGP)
abnormal olfactory epithelium cilium morphology  (IAGP)
abnormal olfactory sensory neuron morphology  (IAGP)
abnormal orientation of outer hair cell stereociliary bundles  (IAGP)
abnormal photoreceptor inner segment morphology  (IAGP)
abnormal photoreceptor outer segment morphology  (IAGP)
abnormal placing response  (IAGP)
abnormal posterior eye segment morphology  (IAGP)
abnormal renal tubule epithelial cell primary cilium morphology  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retina photoreceptor layer morphology  (IAGP)
abnormal retina pigment epithelium morphology  (IAGP)
abnormal retina vasculature morphology  (IAGP)
absent sperm flagellum  (IAGP)
decreased aggression  (IAGP)
decreased aggression towards mice  (IAGP)
decreased birth body size  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased dendritic spine density  (IAGP)
decreased dendritic spine length  (IAGP)
decreased exploration in new environment  (IEA)
decreased grip strength  (IAGP)
decreased salivation  (IAGP)
decreased thigmotaxis  (IEA)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
enhanced autophagy  (IAGP)
enlarged lateral ventricles  (IAGP)
enlarged liver  (IAGP)
enlarged third ventricle  (IAGP)
hepatic steatosis  (IAGP)
hydrometrocolpos  (IAGP)
hyperactivity  (IEA)
hyporesponsive to tactile stimuli  (IAGP)
impaired contextual conditioning behavior  (IAGP)
impaired cued conditioning behavior  (IAGP)
increased abdominal adipose tissue amount  (IAGP)
increased anxiety-related response  (IAGP)
increased blood urea nitrogen level  (IAGP)
increased circulating alanine transaminase level  (IAGP)
increased circulating alkaline phosphatase level  (IAGP)
increased circulating aspartate transaminase level  (IAGP)
increased circulating bilirubin level  (IAGP)
increased circulating cholesterol level  (IAGP)
increased circulating creatine kinase level  (IAGP)
increased circulating glucose level  (IAGP)
increased circulating HDL cholesterol level  (IAGP)
increased circulating insulin level  (IAGP)
increased circulating lactate dehydrogenase level  (IAGP)
increased circulating LDL cholesterol level  (IAGP)
increased circulating leptin level  (IAGP)
increased circulating magnesium level  (IAGP)
increased circulating sodium level  (IAGP)
increased circulating VLDL cholesterol level  (IAGP)
increased immunoglobulin level  (IAGP)
increased startle reflex  (IEA)
increased susceptibility to age related obesity  (IAGP)
increased susceptibility to age-related retinal degeneration  (IAGP)
increased thigmotaxis  (IAGP)
increased total body fat amount  (IAGP)
kidney cyst  (IAGP)
male infertility  (IAGP)
no abnormal phenotype detected  (IAGP)
obese  (IAGP)
optic nerve atrophy  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
polyphagia  (IAGP)
preweaning lethality, incomplete penetrance  (IAGP)
renal glomerulus cyst  (IAGP)
retina degeneration  (IAGP)
small hippocampus  (IAGP)
thin cerebral cortex  (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. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Kim JC, etal., Nat Genet. 2004 May;36(5):462-70. Epub 2004 Apr 25.
3. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, etal., Development 2000 Apr;127(8):1737-49.
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. 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.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Zhang Y, etal., Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11544199   PMID:12016587   PMID:12477932   PMID:12524598   PMID:14610273   PMID:15173597  
PMID:15322545   PMID:15489334   PMID:15539463   PMID:15649943   PMID:16141072   PMID:16141073   PMID:16170314   PMID:16602821   PMID:16794820   PMID:16888132   PMID:17103052   PMID:17379567  
PMID:17519557   PMID:17574030   PMID:17591906   PMID:17959775   PMID:18022666   PMID:18032602   PMID:18299575   PMID:18317593   PMID:18334641   PMID:18443298   PMID:18762586   PMID:18799693  
PMID:19081074   PMID:19150989   PMID:19640321   PMID:20080638   PMID:20398886   PMID:20603001   PMID:20843830   PMID:21071598   PMID:21106857   PMID:21152952   PMID:21267068   PMID:21444805  
PMID:21873635   PMID:22072986   PMID:22139371   PMID:22228099   PMID:22500027   PMID:22922713   PMID:23178122   PMID:23554981   PMID:23599282   PMID:23716571   PMID:24194600   PMID:24469809  
PMID:24500759   PMID:24691443   PMID:24695551   PMID:25374274   PMID:25504142   PMID:26103456   PMID:26275350   PMID:27626380   PMID:27687499   PMID:27979967   PMID:28291807   PMID:28371235  
PMID:29372668   PMID:30665891   PMID:30901771   PMID:30902542   PMID:31146259   PMID:31479441   PMID:31690665   PMID:32290105   PMID:32433491   PMID:33185668   PMID:33200981   PMID:33426789  
PMID:34624148   PMID:35771640   PMID:38355793  


Genomics

Comparative Map Data
Bbs4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39959,229,249 - 59,260,791 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl959,229,273 - 59,260,791 (-)EnsemblGRCm39 Ensembl
GRCm38959,321,966 - 59,353,508 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,321,990 - 59,353,508 (-)EnsemblGRCm38mm10GRCm38
MGSCv37959,169,773 - 59,201,315 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36959,119,972 - 59,151,466 (-)NCBIMGSCv36mm8
Celera956,549,258 - 56,580,867 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.01NCBI
BBS4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,686,207 - 72,738,473 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,686,186 - 72,742,006 (+)EnsemblGRCh38hg38GRCh38
GRCh371572,978,548 - 73,030,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,765,588 - 70,817,869 (+)NCBINCBI36Build 36hg18NCBI36
Build 341570,765,587 - 70,817,869NCBI
Celera1549,857,583 - 49,909,622 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1549,809,136 - 49,861,119 (+)NCBIHuRef
CHM1_11573,096,698 - 73,148,926 (+)NCBICHM1_1
T2T-CHM13v2.01570,503,538 - 70,555,769 (+)NCBIT2T-CHM13v2.0
Bbs4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8868,627,739 - 68,661,232 (-)NCBIGRCr8
mRatBN7.2859,731,912 - 59,765,408 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl859,731,912 - 59,765,607 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx865,256,505 - 65,289,972 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0863,529,523 - 63,562,988 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0861,398,858 - 61,432,323 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0864,115,005 - 64,154,432 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl864,121,392 - 64,154,396 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0863,883,342 - 63,916,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4863,153,456 - 63,189,904 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1863,173,427 - 63,210,255 (-)NCBI
Celera859,173,803 - 59,207,298 (-)NCBICelera
Cytogenetic Map8q24NCBI
Bbs4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554504,631,266 - 4,662,719 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554504,624,634 - 4,668,470 (-)NCBIChiLan1.0ChiLan1.0
BBS4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21661,915,153 - 61,970,174 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11566,079,502 - 66,134,495 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01551,601,526 - 51,656,460 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11570,362,007 - 70,416,964 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1570,362,261 - 70,416,964 (+)Ensemblpanpan1.1panPan2
BBS4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13036,058,932 - 36,109,206 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3035,927,233 - 36,108,381 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3035,988,900 - 36,045,202 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03036,258,709 - 36,315,967 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13036,211,087 - 36,268,605 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03036,237,290 - 36,294,633 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03036,493,119 - 36,550,621 (+)NCBIUU_Cfam_GSD_1.0
Bbs4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640114,114,361 - 114,171,453 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647131,962,336 - 32,020,712 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647131,962,500 - 32,019,516 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl760,631,914 - 60,693,334 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1760,631,913 - 60,693,359 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2765,150,187 - 65,267,538 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BBS4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12610,742,982 - 10,799,615 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2610,743,850 - 10,775,908 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048130,788,533 - 130,854,411 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bbs4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247811,503,816 - 1,538,755 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247811,502,069 - 1,553,101 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bbs4
981 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:309
Count of miRNA genes:246
Interacting mature miRNAs:281
Transcripts:ENSMUST00000026265
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
1301782Chol11_mcholesterol 11 (mouse)Not determined92929292963293072Mouse
11532712Sluc39d_msusceptibility to lung cancer 39d (mouse)92558748559587581Mouse
12790986Pcho9_mplasma cholesterol 9 (mouse)93809957572099575Mouse
12790990Tgl7_mtriglyceride 7 (mouse)95455996088559960Mouse
14746993Manh66_mmandible shape 66 (mouse)94981404883814048Mouse
12790992Arlsq1_maortic root lesion size QTL 1 (mouse)93809957572099575Mouse
1301252Etohc3_methanol consumption 3 (mouse)Not determined93503447869034599Mouse
4141224Dxmod_mdoxorubicin nephropathy modifier (mouse)Not determined49452421101406120Mouse
1357709Si5lq3_mserum IGFBP-5 level QTL 3 (mouse)Not determined93311102567111140Mouse
12791002Arlsq2_maortic root lesion size QTL 2 (mouse)93809957572099575Mouse
1301558Stheal8_msoft tissue heal 8 (mouse)Not determined94348071477480860Mouse
1357746Vtbt7_mvertebral trabecular bone trait 7 (mouse)Not determined93073991564740021Mouse
1301172Fembrs6_mfemur breaking strength 6 (mouse)Not determined95902438793024534Mouse
1301435Trigq1_mtriglyceride QTL 1 (mouse)Not determined94442817478428262Mouse
1301051Eae9_msusceptibility to experimental allergic encephalomyelitis 9 (mouse)Not determined94942029863239852Mouse
1301049El4_mepilepsy 4 (mouse)Not determined94942029867151448Mouse
1301692Hts_mhypothermia sensitivity (mouse)Not determined93251117266511421Mouse
1558968Tbdr1_mbody temperature response to dietary restriction, QTL 1 (mouse)Not determined93503447869034599Mouse
4141071Ath29_matherosclerosis 29 (mouse)Not determined94041959474607925Mouse
4141323Ptnu3_mproteinuria 3 (mouse)Not determined93288970266889836Mouse
1301287Feml2_mfemur length in high growth mice 2 (mouse)Not determined95750728363207282Mouse
11532696Sluc39c_msusceptibility to lung cancer 39c (mouse)92558748559587581Mouse
1302180Actd4_mactivity-distance traveled 4 (mouse)Not determined93243456366434857Mouse
11532695Sluc39b_msusceptibility to lung cancer 39b (mouse)92558748559587581Mouse
1301803Stheal9_msoft tissue heal 9 (mouse)Not determined95902438793024534Mouse
11532694Sluc39a_msusceptibility to lung cancer 39a (mouse)92558748559587581Mouse
13208563Bmiq8_mbody mass index QTL 8 (mouse)92491129668907282Mouse
4141572Ntta3_mneurotensin transcript abundance 3 (mouse)Not determined4659767165831177Mouse
1301549Bbaa9_mB.burgdorferi-associated arthritis 9 (mouse)Not determined95780504771481754Mouse
1300563Pgia5_mproteoglycan induced arthritis 5 (mouse)Not determined94883105682831177Mouse
13525007Lfhrvq1_mlow frequency time index heart rate varaiblity, QTL 1 (mouse)95878431868556008Mouse
10043867Mtbcq9_mmultiple trait body composition QTL 9 (mouse)Not determined92679642160796552Mouse
1301972Cocrb8_mcocaine related behavior 8 (mouse)Not determined93503447869034599Mouse
10043987Stheal13_msoft tissue heal 13 (mouse)Not determined92679642160796552Mouse
1558872Ibdq1_minflammatory bowel disease QTL 1 (mouse)Not determined93397884073439255Mouse
12738449Spcq2_msperm count QTL 2 (mouse)93939988573399885Mouse
1301184Bdln4_mbody length 4 (mouse)Not determined95015132084151448Mouse
4141676Neogq1_mneonatal growth QTL 1 (mouse)Not determined95780504786121973Mouse
1301702Brm1_mbrachyury modifier 1 (mouse)Not determined94080504774805204Mouse
1300932Hdlq17_mHDL QTL 17 (mouse)Not determined92679642160796552Mouse
10043971Obq32_mobesity QTL 32 (mouse)Not determined93781952871819528Mouse
10043847Hdlq89_mHDL QTL 89 (mouse)Not determined92929292963293072Mouse
10045639Heal28_mwound healing/regeneration 28 (mouse)Not determined94348071477480860Mouse
13525008Hrtiq1_mheart rate time index, QTL 1 (mouse)95242609868556008Mouse
1301965Vmbic5_mventral midbrain iron content 5 (mouse)Not determined95759149265831177Mouse
4141148Cq5_mcholesterol QTL 5 (mouse)Not determined93245242166452546Mouse
4142042Alpq3_malcohol preference QTL 3 (mouse)Not determined93730619798701707Mouse
1301365Ap5q_malcohol preference 5 QTL (mouse)Not determined93005316464053277Mouse
1301241Renf1_mrenal failure 1 (mouse)Not determined95203447899792481Mouse
10043877Adip21_madiposity 21 (mouse)Not determined95643910890439255Mouse
10043878Adip20_madiposity 20 (mouse)Not determined92725119461251323Mouse
1300716Cd4ts4_mCD4 T cell subset 4 (mouse)Not determined94883105682831177Mouse

Markers in Region
AW742241  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38959,322,505 - 59,322,757UniSTSGRCm38
MGSCv37959,170,312 - 59,170,564UniSTSGRCm37
Celera956,549,797 - 56,550,049UniSTS
Cytogenetic Map9BUniSTS
cM Map933.0UniSTS
Whitehead/MRC_RH9588.92UniSTS
RH126921  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38959,323,386 - 59,324,057UniSTSGRCm38
MGSCv37959,171,193 - 59,171,864UniSTSGRCm37
Celera956,550,705 - 56,551,373UniSTS
Cytogenetic Map9BUniSTS
cM Map933.0UniSTS
Whitehead/MRC_RH9644.66UniSTS
AA924263  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38959,322,089 - 59,322,290UniSTSGRCm38
MGSCv37959,169,896 - 59,170,097UniSTSGRCm37
Celera956,549,381 - 56,549,582UniSTS
Cytogenetic Map9BUniSTS
cM Map933.0UniSTS
Whitehead/MRC_RH9588.34UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001359558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_153195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036154544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC134894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK039560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK089970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK134734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK141430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC145771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC145773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT025587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000026265   ⟹   ENSMUSP00000026265
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl959,229,273 - 59,260,791 (-)Ensembl
GRCm38.p6 Ensembl959,321,990 - 59,353,508 (-)Ensembl
Ensembl Acc Id: ENSMUST00000214225
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl959,249,418 - 59,260,732 (-)Ensembl
GRCm38.p6 Ensembl959,342,135 - 59,353,449 (-)Ensembl
Ensembl Acc Id: ENSMUST00000214832
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl959,237,701 - 59,260,722 (-)Ensembl
GRCm38.p6 Ensembl959,330,418 - 59,353,439 (-)Ensembl
Ensembl Acc Id: ENSMUST00000217367   ⟹   ENSMUSP00000150973
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl959,230,170 - 59,234,796 (-)Ensembl
GRCm38.p6 Ensembl959,322,887 - 59,327,513 (-)Ensembl
RefSeq Acc Id: NM_001359558   ⟹   NP_001346487
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
GRCm38959,321,966 - 59,353,508 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001411791   ⟹   NP_001398720
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
RefSeq Acc Id: NM_001411793   ⟹   NP_001398722
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
RefSeq Acc Id: NM_001411794   ⟹   NP_001398723
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
RefSeq Acc Id: NM_001411795   ⟹   NP_001398724
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
RefSeq Acc Id: NM_001411796   ⟹   NP_001398725
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
RefSeq Acc Id: NM_175325   ⟹   NP_780534
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,273 - 59,260,729 (-)NCBI
GRCm38959,321,966 - 59,353,508 (-)ENTREZGENE
MGSCv37959,169,773 - 59,201,315 (-)RGD
Celera956,549,258 - 56,580,867 (-)RGD
cM Map9 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_153195
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,249 - 59,260,791 (-)NCBI
GRCm38959,321,966 - 59,353,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036154544   ⟹   XP_036010437
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39959,229,270 - 59,253,129 (-)NCBI
Sequence:
RefSeq Acc Id: NP_780534   ⟸   NM_175325
- Peptide Label: isoform 1
- UniProtKB: Q8C1Z7 (UniProtKB/Swiss-Prot),   Q5EBJ7 (UniProtKB/Swiss-Prot),   Q562E1 (UniProtKB/Swiss-Prot),   Q3UYF0 (UniProtKB/Swiss-Prot),   Q8CA57 (UniProtKB/Swiss-Prot),   A6H669 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001346487   ⟸   NM_001359558
- Peptide Label: isoform 2
Ensembl Acc Id: ENSMUSP00000026265   ⟸   ENSMUST00000026265
Ensembl Acc Id: ENSMUSP00000150973   ⟸   ENSMUST00000217367
RefSeq Acc Id: XP_036010437   ⟸   XM_036154544
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001398722   ⟸   NM_001411793
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001398725   ⟸   NM_001411796
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001398720   ⟸   NM_001411791
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001398724   ⟸   NM_001411795
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001398723   ⟸   NM_001411794
- Peptide Label: isoform 5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8C1Z7-F1-model_v2 AlphaFold Q8C1Z7 1-520 view protein structure

Promoters
RGD ID:6844216
Promoter ID:MM_KWN:57603
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,   MEF_B4,   MEF_B6
Transcripts:NM_175325
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36959,200,969 - 59,201,469 (-)MPROMDB
RGD ID:8669834
Promoter ID:EPDNEW_M12947
Type:initiation region
Name:Bbs4_1
Description:Mus musculus Bardet-Biedl syndrome 4 , transcript variant 1,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38959,353,446 - 59,353,506EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2143311 AgrOrtholog
Ensembl Genes ENSMUSG00000025235 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000026265 ENTREZGENE
  ENSMUST00000026265.8 UniProtKB/Swiss-Prot
  ENSMUST00000217367.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:102774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:2143311 ENTREZGENE
NCBI Gene 102774 ENTREZGENE
PANTHER BARDET-BIEDL SYNDROME 4 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR44186 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPR_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bbs4 PhenoGen
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HCP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1L1SV19_MOUSE UniProtKB/TrEMBL
  A6H669 ENTREZGENE, UniProtKB/TrEMBL
  BBS4_MOUSE UniProtKB/Swiss-Prot
  Q3UYF0 ENTREZGENE
  Q562E1 ENTREZGENE
  Q5EBJ7 ENTREZGENE
  Q8C1Z7 ENTREZGENE
  Q8CA57 ENTREZGENE
UniProt Secondary Q3UYF0 UniProtKB/Swiss-Prot
  Q562E1 UniProtKB/Swiss-Prot
  Q5EBJ7 UniProtKB/Swiss-Prot
  Q8CA57 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-27 Bbs4  Bardet-Biedl syndrome 4  Bbs4  Bardet-Biedl syndrome 4 (human)  Symbol and/or name change 5135510 APPROVED