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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Bbs4 (Bardet-Biedl syndrome 4) Rattus norvegicus
Analyze
Symbol: Bbs4
Name: Bardet-Biedl syndrome 4
RGD ID: 1309134
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 protein localization to centrosome. Predicted to be located in several cellular components, including ciliary membrane; microtubule organizing center; and photoreceptor cell cilium. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: Bardet-Biedl syndrome 4 homolog; Bardet-Biedl syndrome 4 homolog (human) ; LOC300754
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component

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. 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. Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Kamiya A, etal., Arch Gen Psychiatry. 2008 Sep;65(9):996-1006. doi: 10.1001/archpsyc.65.9.996.
4. 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.
5. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. GOA pipeline RGD automated data pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Comprehensive gene review and curation RGD comprehensive gene curation
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:14520415   PMID:15173597   PMID:15322545   PMID:15539463   PMID:15649943   PMID:16170314   PMID:16794820   PMID:17379567   PMID:17519557   PMID:17574030   PMID:17591906   PMID:18022666  
PMID:18032602   PMID:18299575   PMID:18317593   PMID:18334641   PMID:18443298   PMID:19150989   PMID:20080638   PMID:20398886   PMID:21444805   PMID:22072986   PMID:22139371   PMID:22228099  
PMID:22302990   PMID:22500027   PMID:23178122   PMID:23716571   PMID:24469809   PMID:24550735   PMID:24695551   PMID:27979967  


Genomics

Comparative Map Data
Bbs4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,686,207 - 72,738,473 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,686,179 - 72,738,475 (+)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
(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
(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_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
ARIH1
(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
127 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:118
Count of miRNA genes:90
Interacting mature miRNAs:106
Transcripts:ENSRNOT00000031262
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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581557Eae16Experimental allergic encephalomyelitis QTL 163.8nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis incidence/prevalence measurement (CMO:0001046)88462195110921472Rat
631650Stl6Serum triglyceride level QTL 640.0019blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)810378157112202585Rat
1558646Swd5Spike wave discharge measurement QTL 53.450.00036brain electrophysiology trait (VT:0010557)brain spike-and-wave discharge frequency (CMO:0001742)81490675159906751Rat
61373Mcs4Mammary carcinoma susceptibility QTL 41.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)81629044461290444Rat
631271Lecl1Lens clarity QTL 10.001lens clarity trait (VT:0001304)age of onset/diagnosis of cataract (CMO:0001584)81898416884531599Rat
731182Uae24Urinary albumin excretion QTL 246.4urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)81933115293965294Rat
631842Inf1Infertility severity QTL 14.10.001seminal gland mass (VT:0010524)seminal vesicle wet weight (CMO:0001603)82266233067662330Rat
2303564Gluco43Glucose level QTL 433blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)82613018771130187Rat
2303572Insul13Insulin level QTL 132blood insulin amount (VT:0001560)blood insulin level (CMO:0000349)82613018771130187Rat
1358892Kidm26Kidney mass QTL 263.69kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)82720571599103503Rat
1358896Bp262Blood pressure QTL 2622.89arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)82720571599103503Rat
1358907Cm40Cardiac mass QTL 401.89heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)82720571599103503Rat
1300146Rf17Renal function QTL 172.9renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)82824291273242912Rat
8662823Vetf5Vascular elastic tissue fragility QTL 51.9artery integrity trait (VT:0010639)patent ductus arteriosus score (CMO:0002566)82824291299525068Rat
724514Uae15Urinary albumin excretion QTL 152.9urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)82950266570386295Rat
1549908Neudeg1Neurodegradation QTL 15.50nervous system integrity trait (VT:0010566)logarithm of the ratio of the lesioned side motor neuron count to contralateral side motor neuron count (CMO:0001986)83018886794457446Rat
61353Bp35Blood pressure QTL 350.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)83084815461290444Rat
61353Bp35Blood pressure QTL 350.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)83084815461290444Rat
61353Bp35Blood pressure QTL 350.001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)83084815461290444Rat
61353Bp35Blood pressure QTL 350.001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)83084815461290444Rat
11556286Cm81Cardiac mass QTL 810.01heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)83084815461290444Rat
1359033Bp273Blood pressure QTL 273arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)83084815461290444Rat
2313046Bss78Bone structure and strength QTL 783.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)83084815482460899Rat
2313057Bss76Bone structure and strength QTL 7630.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)83084815482460899Rat
2313067Bss77Bone structure and strength QTL 773.10.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)83084815482460899Rat
2313088Bss75Bone structure and strength QTL 753.10.0001body length (VT:0001256)body length, nose to rump (CMO:0000079)83084815482460899Rat
1578755Pur5Proteinuria QTL 53.30.0001urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)830848154101699754Rat
1578765Klgr1Kidney lesion grade QTL 13.30.0001kidney morphology trait (VT:0002135)organ lesion measurement (CMO:0000677)830848154101699754Rat
1578769Uae31Urinary albumin excretion QTL 313.30.001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)830848154101699754Rat
2316950Scl66Serum cholesterol level QTL 664.1blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)830848259105647037Rat
1298065Scl16Serum cholesterol level QTL 163.8blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)83085640475856404Rat
1582222Epfw2Epididymal fat weight QTL 23.20.0005epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)83173772976737729Rat
61358Bp39Blood pressure QTL 392arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)83555193880551938Rat
61464Niddm11Non-insulin dependent diabetes mellitus QTL 113.10.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)83558203280582032Rat
1331838Niddm61Non-insulin dependent diabetes mellitus QTL 613.530.0004blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)83646953599083736Rat
737824Hcar10Hepatocarcinoma resistance QTL 102.9liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)84071306682925667Rat
1358906Bp253Blood pressure QTL 25340.0004arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)84071306693965294Rat
1554321Bmd3Bone mineral density QTL 37.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)840952565123900184Rat
1331769Rf39Renal function QTL 393.871urine output (VT:0003620)timed urine volume (CMO:0000260)84186687675097878Rat
1298079Activ2Activity QTL 29.50.000001voluntary movement trait (VT:0003491)rearing measurement (CMO:0001515)84186687686866876Rat
631216Stl9Serum triglyceride level QTL 94.710.0001blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)84186701070386132Rat
70161Bp62Blood pressure QTL 622.90.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)84269268490165460Rat
12879882Am8Aortic mass QTL 80.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)84329616998968765Rat
12879878Bw183Body weight QTL 1830.001body mass (VT:0001259)body weight (CMO:0000012)84329616998968765Rat
12879879Cm99Cardiac mass QTL 990.001heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)84329616998968765Rat
12879880Cm100Cardiac mass QTL 1000.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)84329616998968765Rat
12879881Cm101Cardiac mass QTL 1010.001heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)84329616998968765Rat
12879883Kidm65Kidney mass QTL 650.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)84329616998968765Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)846531639119088626Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)846531639119088626Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)absolute change in systolic blood pressure (CMO:0000607)846531639119088626Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)846531639119088626Rat
1331837Bw23Body weight QTL 234.190.00007body mass (VT:0001259)body weight (CMO:0000012)84653172299083736Rat
2303570Gluco48Glucose level QTL 482blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)84980583194805831Rat
2313086Bss60Bone structure and strength QTL 604.10.0001tibia length (VT:0004357)tibia length (CMO:0000450)85009524982460899Rat
4889938Bss89Bone structure and strength QTL 893.8tibia size trait (VT:0100001)tibia cortical bone volume (CMO:0001725)85009524982460899Rat
5684973Bss100Bone structure and strength QTL 1004.7tibia area (VT:1000281)tibia area measurement (CMO:0001382)85009524982460899Rat
1358912Bw51Body weight QTL 512.95body mass (VT:0001259)body weight (CMO:0000012)851351728107062046Rat
10402857Bp380Blood pressure QTL 3800.95arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)85396876598968765Rat
2301402Bp316Blood pressure QTL 3160.005arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)85396876598968765Rat
2293697Bmd39Bone mineral density QTL 39femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)85404374498968765Rat
1582243Bw66Body weight QTL 663.40.0048body mass (VT:0001259)body weight (CMO:0000012)85423764485365202Rat
1582254Kidm31Kidney mass QTL 313kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)85423764485365202Rat
631664Hcar3Hepatocarcinoma resistance QTL 32.90.0005liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)85423764499103503Rat
1300177Cm2Cardiac mass QTL 23.65heart mass (VT:0007028)heart weight (CMO:0000017)854259986100382532Rat

Markers in Region
RH136649  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2859,733,616 - 59,733,810 (+)MAPPERmRatBN7.2
Rnor_6.0864,123,097 - 64,123,290NCBIRnor6.0
Rnor_5.0863,885,047 - 63,885,240UniSTSRnor5.0
RGSC_v3.4863,155,161 - 63,155,354UniSTSRGSC3.4
Celera859,175,508 - 59,175,701UniSTS
RH 3.4 Map8702.09UniSTS
Cytogenetic Map8q24UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 28 26 10 19 10 1 1 74 34 40 11 1
Low 15 31 31 31 7 10 1 1 7
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000031262   ⟹   ENSRNOP00000030021
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl859,731,912 - 59,765,408 (-)Ensembl
Rnor_6.0 Ensembl864,121,392 - 64,154,396 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000104326   ⟹   ENSRNOP00000092159
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl859,731,912 - 59,765,607 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000110213   ⟹   ENSRNOP00000078115
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl859,731,912 - 59,761,951 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000119362   ⟹   ENSRNOP00000087657
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl859,731,912 - 59,761,951 (-)Ensembl
RefSeq Acc Id: NM_001106826   ⟹   NP_001100296
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2859,731,912 - 59,765,408 (-)NCBI
Rnor_6.0864,121,392 - 64,154,396 (-)NCBI
Rnor_5.0863,883,342 - 63,916,346 (-)NCBI
RGSC_v3.4863,153,456 - 63,189,904 (-)RGD
Celera859,173,803 - 59,207,298 (-)RGD
Sequence:
RefSeq Acc Id: XM_008766226   ⟹   XP_008764448
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2859,731,936 - 59,743,440 (-)NCBI
Rnor_6.0864,115,005 - 64,132,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039081094   ⟹   XP_038937022
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2859,731,936 - 59,765,239 (-)NCBI
RefSeq Acc Id: XM_039081095   ⟹   XP_038937023
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2859,731,936 - 59,765,389 (-)NCBI
RefSeq Acc Id: NP_001100296   ⟸   NM_001106826
- UniProtKB: D4A8B1 (UniProtKB/TrEMBL),   A6J521 (UniProtKB/TrEMBL),   A0A8I5XWT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008764448   ⟸   XM_008766226
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSRNOP00000030021   ⟸   ENSRNOT00000031262
RefSeq Acc Id: XP_038937023   ⟸   XM_039081095
- Peptide Label: isoform X2
- UniProtKB: A0A8I6A973 (UniProtKB/TrEMBL),   A0A8I5XWT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038937022   ⟸   XM_039081094
- Peptide Label: isoform X1
- UniProtKB: A0A8I5XWT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000092159   ⟸   ENSRNOT00000104326
RefSeq Acc Id: ENSRNOP00000078115   ⟸   ENSRNOT00000110213
RefSeq Acc Id: ENSRNOP00000087657   ⟸   ENSRNOT00000119362

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A8B1-F1-model_v2 AlphaFold D4A8B1 1-520 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13696038
Promoter ID:EPDNEW_R6562
Type:multiple initiation site
Name:Bbs4_1
Description:Bardet-Biedl syndrome 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0864,154,380 - 64,154,440EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1309134 AgrOrtholog
BioCyc Gene G2FUF-30249 BioCyc
Ensembl Genes ENSRNOG00000026171 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000031262 ENTREZGENE
  ENSRNOT00000031262.5 UniProtKB/TrEMBL
  ENSRNOT00000104326.1 UniProtKB/TrEMBL
  ENSRNOT00000110213.1 UniProtKB/TrEMBL
  ENSRNOT00000119362 ENTREZGENE
  ENSRNOT00000119362.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/TrEMBL
InterPro TPR-like_helical UniProtKB/TrEMBL
  TPR_repeat UniProtKB/TrEMBL
KEGG Report rno:300754 UniProtKB/TrEMBL
NCBI Gene 300754 ENTREZGENE
PANTHER BARDET-BIEDL SYNDROME 4 PROTEIN UniProtKB/TrEMBL
  PTHR44186 UniProtKB/TrEMBL
Pfam TPR_11 UniProtKB/TrEMBL
  TPR_8 UniProtKB/TrEMBL
PhenoGen Bbs4 PhenoGen
PROSITE TPR UniProtKB/TrEMBL
  TPR_REGION UniProtKB/TrEMBL
RatGTEx ENSRNOG00000026171 RatGTEx
SMART TPR UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/TrEMBL
UniProt A0A8I5XWT8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A973 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6AHB5_RAT UniProtKB/TrEMBL
  A6J521 ENTREZGENE, UniProtKB/TrEMBL
  D4A8B1 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2009-11-05 Bbs4  Bardet-Biedl syndrome 4  Bbs4  Bardet-Biedl syndrome 4 homolog (human)   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Bbs4  Bardet-Biedl syndrome 4 homolog (human)   Bbs4_predicted  Bardet-Biedl syndrome 4 homolog (human) (predicted)  'predicted' is removed 2292626 APPROVED
2006-03-30 Bbs4_predicted  Bardet-Biedl syndrome 4 homolog (human) (predicted)    Bardet-Biedl syndrome 4 (predicted)  Name updated 1299863 APPROVED
2005-01-12 Bbs4_predicted  Bardet-Biedl syndrome 4 (predicted)      Symbol and Name status set to approved 70820 APPROVED