Bbs7 (Bardet-Biedl syndrome 7) - Rat Genome Database

Name: Bbs7
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: Bbs7 (Bardet-Biedl syndrome 7) Rattus norvegicus

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Symbol:

Bbs7

Name:

Bardet-Biedl syndrome 7

RGD ID:

1309264

Description:

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in several processes, including cilium assembly; fat cell differentiation; and intracellular transport. Predicted to act upstream of or within several processes, including positive regulation of proteasomal ubiquitin-dependent protein catabolic process; primary palate development; and smoothened signaling pathway. Predicted to be located in several cellular components, including centrosome; ciliary membrane; and photoreceptor outer segment. Predicted to be part of BBSome. Predicted to be active in cytoskeleton; membrane; and neuron projection. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7); INTERACTS WITH 2,6-dinitrotoluene; 4,4'-diaminodiphenylmethane; bisphenol A.

Type:

protein-coding

RefSeq Status:

PROVISIONAL

Previously known as:

LOC361930

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	BBS7 (Bardet-Biedl syndrome 7)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Mus musculus (house mouse):	Bbs7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Bbs7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	BBS7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	BBS7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Bbs7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	BBS7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Bbs7 (Bardet-Biedl syndrome 7)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Other homologs ²
Homo sapiens (human):	CCDC66 (coiled-coil domain containing 66)	HGNC	OMA
Alliance orthologs ³
Homo sapiens (human):	BBS7 (Bardet-Biedl syndrome 7)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Bbs7 (Bardet-Biedl syndrome 7)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	bbs7 (Bardet-Biedl syndrome 7)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	osm-12	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	bbs7	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER)

Latest Assembly:

mRatBN7.2 - mRatBN7.2 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	121,362,884 - 121,402,473 (-)	NCBI		GRCr8
mRatBN7.2	2	119,434,760 - 119,474,665 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	119,434,760 - 119,474,396 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	125,989,397 - 126,029,059 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	124,101,893 - 124,141,555 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	118,730,889 - 118,770,504 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	123,283,402 - 123,322,991 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	123,283,388 - 123,323,170 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	142,898,505 - 142,938,346 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	123,070,273 - 123,109,862 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	123,015,235 - 123,054,824 (-)	NCBI
Celera	2	114,392,644 - 114,432,336 (-)	NCBI		Celera
Cytogenetic Map	2	q25	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Bardet-Biedl syndrome (ISO)

Bardet-Biedl syndrome 1 (ISO)

Bardet-Biedl Syndrome 1/7, Digenic (ISO)

Bardet-Biedl syndrome 7 (ISO)

fundus dystrophy (ISO)

genetic disease (ISO)

intellectual disability (ISO)

neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (ISO)

Neurodevelopmental Disorders (ISO)

retinitis pigmentosa (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (EXP)

3-isobutyl-1-methyl-7H-xanthine (ISO)

4,4'-diaminodiphenylmethane (EXP)

acrylamide (ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (ISO)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cisplatin (ISO)

crocidolite asbestos (ISO)

dexamethasone (ISO)

dicrotophos (ISO)

ethyl methanesulfonate (ISO)

fenvalerate (EXP)

fluoranthene (ISO)

flutamide (EXP)

folic acid (ISO)

formaldehyde (ISO)

gentamycin (EXP)

indole-3-methanol (EXP)

indometacin (ISO)

methyl methanesulfonate (ISO)

N-nitrosodiethylamine (EXP)

paracetamol (EXP,ISO)

PCB138 (EXP)

perfluorohexanesulfonic acid (ISO)

progesterone (ISO)

sodium arsenite (ISO)

sodium fluoride (ISO)

sunitinib (ISO)

thioacetamide (EXP)

trichloroethene (EXP)

trichostatin A (ISO)

triphenyl phosphate (ISO)

triptonide (ISO)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biological_process (ND)

brain development (ISO)

cilium assembly (IBA)

eye development (ISO)

fat cell differentiation (ISO)

heart development (ISO)

intracellular transport (IBA)

limb development (ISO)

non-motile cilium assembly (IEA)

positive regulation of proteasomal ubiquitin-dependent protein catabolic process (ISO)

primary palate development (ISO)

protein localization (IBA,ISO)

protein transport (IEA)

regulation of transcription by RNA polymerase II (ISO)

smoothened signaling pathway (ISO)

Cellular Component

axoneme (IBA,ISO)

BBSome (IBA,ISO)

centrosome (ISO)

ciliary basal body (IBA,ISO)

ciliary membrane (ISO)

membrane (IBA,ISO)

neuron projection (IBA)

nucleus (ISO)

photoreceptor outer segment (ISO)

Molecular Function

protein binding (ISO)

RNA polymerase II-specific DNA-binding transcription factor binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.	Badano JL, etal., Am J Hum Genet. 2003 Mar;72(3):650-8. Epub 2003 Feb 3.
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.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Comprehensive gene review and curation	RGD comprehensive gene curation

Additional References at PubMed

PMID:12477932	PMID:17379567	PMID:17574030	PMID:20080638	PMID:21399614	PMID:22072986	PMID:22139371	PMID:22228099	PMID:22302990	PMID:22500027	PMID:23943788	PMID:24550735

Genomics

Comparative Map Data

Bbs7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	121,362,884 - 121,402,473 (-)	NCBI		GRCr8
mRatBN7.2	2	119,434,760 - 119,474,665 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	119,434,760 - 119,474,396 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	125,989,397 - 126,029,059 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	124,101,893 - 124,141,555 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	118,730,889 - 118,770,504 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	123,283,402 - 123,322,991 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	123,283,388 - 123,323,170 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	142,898,505 - 142,938,346 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	123,070,273 - 123,109,862 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	123,015,235 - 123,054,824 (-)	NCBI
Celera	2	114,392,644 - 114,432,336 (-)	NCBI		Celera
Cytogenetic Map	2	q25	NCBI

BBS7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	121,824,329 - 121,870,474 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	121,824,329 - 121,870,487 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	122,745,484 - 122,791,629 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	122,965,085 - 123,011,092 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	123,103,239 - 123,149,247	NCBI
Celera	4	120,131,451 - 120,177,481 (-)	NCBI		Celera
Cytogenetic Map	4	q27	NCBI
HuRef	4	118,472,168 - 118,518,368 (-)	NCBI		HuRef
CHM1_1	4	122,721,951 - 122,768,104 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	125,128,381 - 125,174,522 (-)	NCBI		T2T-CHM13v2.0

Bbs7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	36,627,291 - 36,667,639 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	36,627,291 - 36,667,626 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	36,573,142 - 36,613,492 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	36,573,142 - 36,613,477 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	36,472,065 - 36,512,311 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	36,764,695 - 36,804,938 (-)	NCBI		MGSCv36	mm8
Celera	3	36,458,372 - 36,498,320 (-)	NCBI		Celera
Cytogenetic Map	3	B	NCBI
cM Map	3	17.72	NCBI

Bbs7
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955428	18,681,856 - 18,724,560 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955428	18,682,072 - 18,724,560 (+)	NCBI	ChiLan1.0	ChiLan1.0

BBS7
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	119,620,564 - 119,667,638 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	119,890,001 - 119,939,620 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	114,024,949 - 114,072,000 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	125,161,804 - 125,208,350 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	125,161,804 - 125,208,350 (-)	Ensembl	panpan1.1		panPan2

BBS7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	19	18,280,487 - 18,319,128 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	19	18,280,520 - 18,315,825 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	19	18,497,368 - 18,536,036 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	19	18,398,811 - 18,437,521 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	19	18,398,830 - 18,435,279 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	19	18,349,928 - 18,388,637 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	19	18,631,603 - 18,670,319 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	19	19,107,406 - 19,146,049 (+)	NCBI		UU_Cfam_GSD_1.0

Bbs7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405301	65,998,057 - 66,039,482 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936662	1,080,295 - 1,116,636 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936662	1,081,237 - 1,116,719 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BBS7
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	7	69,100,287 - 69,153,009 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	69,101,662 - 69,152,768 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	48,061,447 - 48,116,070 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bbs7
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624777	2,104,765 - 2,151,402 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624777	2,105,122 - 2,151,399 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in Bbs7
241 total Variants

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	306
Count of miRNA genes:	201
Interacting mature miRNAs:	236
Transcripts:	ENSRNOT00000021453
Prediction methods:	Microtar, 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.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2293835	Kiddil5	Kidney dilation QTL 5	3.8		kidney pelvis morphology trait (VT:0004194)	hydronephrosis severity score (CMO:0001208)	2	42804607	157142209	Rat
2293843	Kiddil6	Kidney dilation QTL 6	3.1		kidney pelvis morphology trait (VT:0004194)	hydronephrosis severity score (CMO:0001208)	2	42804607	182042367	Rat
61438	Cia7	Collagen induced arthritis QTL 7	4.6	0.0001	joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	2	59324377	141596857	Rat
631198	Cm22	Cardiac mass QTL 22	4.3	0.0008	heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	2	76539322	150540526	Rat
631266	Bp132	Blood pressure QTL 132		0.0005	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	46123260	202447032	Rat
61467	Bp14	Blood pressure QTL 14	2.2		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	43154682	202446871	Rat
61467	Bp14	Blood pressure QTL 14	2.2		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	43154682	202446871	Rat
724534	Uae6	Urinary albumin excretion QTL 6	10		urine albumin amount (VT:0002871)	urine albumin level (CMO:0000130)	2	78665619	249053267	Rat
1331760	Bp206	Blood pressure QTL 206	3.62454		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	2	56043031	202447032	Rat
1298074	Bp164	Blood pressure QTL 164		0.003	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	42804607	202447032	Rat
1298080	Bp163	Blood pressure QTL 163		0.02	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	66118275	202447032	Rat
1298085	Bp165	Blood pressure QTL 165		0.0006	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	42804607	202447032	Rat
631566	Bp90	Blood pressure QTL 90		0.0001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	102803808	147803808	Rat
1582257	Gluco21	Glucose level QTL 21	3.1	0.0035	blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	2	118111229	157142209	Rat
1581552	Pur12	Proteinuria QTL 12	5.19	0.0009	urine total protein amount (VT:0000032)	urine protein excretion rate (CMO:0000759)	2	112103657	148076632	Rat
738007	Anxrr7	Anxiety related response QTL 7	4.4		exploratory behavior trait (VT:0010471)	number of entries into a discrete space in an experimental apparatus (CMO:0000960)	2	118189491	163189491	Rat
631507	Bp105	Blood pressure QTL 105		0.001	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	2	112456140	212696837	Rat
1302794	Stl27	Serum triglyceride level QTL 27	4.4	0.0001	blood triglyceride amount (VT:0002644)	plasma triglyceride level (CMO:0000548)	2	25413423	143657569	Rat
1581569	Uae32	Urinary albumin excretion QTL 32		0.0001	urine protein amount (VT:0005160)	urine albumin excretion rate (CMO:0000757)	2	78665619	219826953	Rat
1598862	Glom9	Glomerulus QTL 9	3.5		kidney glomerulus morphology trait (VT:0005325)	index of glomerular damage (CMO:0001135)	2	92337601	137337601	Rat
1598863	Cm65	Cardiac mass QTL 65	2.3		heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	2	92337601	137337601	Rat
1598865	Bp296	Blood pressure QTL 296	2.1		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	81018907	126018907	Rat
2300165	Bmd49	Bone mineral density QTL 49	4.8	0.0001	lumbar vertebra mineral mass (VT:0010511)	bone mineral density (CMO:0001226)	2	88862519	133862519	Rat
2300170	Bmd45	Bone mineral density QTL 45	12.1	0.0001	lumbar vertebra mineral mass (VT:0010511)	volumetric bone mineral density (CMO:0001553)	2	88862519	133862519	Rat
2300185	Bmd46	Bone mineral density QTL 46	8.4	0.0001	femur mineral mass (VT:0010011)	volumetric bone mineral density (CMO:0001553)	2	88862519	133862519	Rat
2293671	Bss44	Bone structure and strength QTL 44	10.97	0.0001	lumbar vertebra morphology trait (VT:0010494)	lumbar vertebra cortical cross-sectional area (CMO:0001690)	2	43162366	148478373	Rat
634308	Sach6	Saccharin preference QTL 6	4.9		taste sensitivity trait (VT:0001986)	saccharin intake volume to total fluid intake volume ratio (CMO:0001601)	2	112456140	212696837	Rat
1578772	Stresp14	Stress response QTL 14	5	0.001	blood renin amount (VT:0003349)	plasma renin activity level (CMO:0000116)	2	82345893	130923501	Rat
1578648	Bss11	Bone structure and strength QTL 11	4.7		femur morphology trait (VT:0000559)	femoral neck cortical cross-sectional area (CMO:0001702)	2	114837527	211674221	Rat
1354594	Despr10	Despair related QTL 10		2e-06	locomotor behavior trait (VT:0001392)	amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)	2	114654253	159654253	Rat
1354601	Slep1	Serum leptin concentration QTL 1	5.39		blood leptin amount (VT:0005667)	serum leptin level (CMO:0000780)	2	43171017	184114403	Rat
1354603	Bp243	Blood pressure QTL 243	3.9		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	26917817	127469484	Rat
1354605	Rf48	Renal function QTL 48	2.9		blood creatinine amount (VT:0005328)	plasma creatinine level (CMO:0000537)	2	74786664	206665859	Rat
1354622	Kidm16	Kidney mass QTL 16	3		kidney mass (VT:0002707)	left kidney wet weight (CMO:0000083)	2	81754530	222436696	Rat
1354648	Bp239	Blood pressure QTL 239		0.001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	66118463	226797303	Rat
1354649	Kidm17	Kidney mass QTL 17	2.9		kidney mass (VT:0002707)	calculated kidney weight (CMO:0000160)	2	81754530	227146641	Rat
2299162	Iddm32	Insulin dependent diabetes mellitus QTL 32	2.36		blood glucose amount (VT:0000188)	age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)	2	78665616	143657569	Rat
1558648	Smcn1	Smooth muscle cell number QTL 1		0.039	blood vessel smooth muscle cell quantity (VT:0010525)	aorta smooth muscle cell count per unit vessel length (CMO:0001646)	2	59134147	127460910	Rat
1558653	Prcr1	Prostate cancer resistance QTL 1	5		prostate integrity trait (VT:0010571)	area of ventral prostate occupied by tumorous lesions to total ventral prostate area ratio (CMO:0000899)	2	72532993	157142209	Rat
1554319	Bmd2	Bone mineral density QTL 2	13.4	0.0001	lumbar vertebra area (VT:0010570)	lumbar vertebra cross-sectional area (CMO:0001689)	2	114837675	212549332	Rat
2290453	Scl55	Serum cholesterol level QTL 55	2.83		blood cholesterol amount (VT:0000180)	plasma total cholesterol level (CMO:0000585)	2	26917817	136917119	Rat
1358887	Bw50	Body weight QTL 50	2.39		body mass (VT:0001259)	body weight (CMO:0000012)	2	25413652	157142078	Rat
1358894	Kidm24	Kidney mass QTL 24	4.03		kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	2	25413423	157142209	Rat
1358899	Kidm23	Kidney mass QTL 23	3.88		kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	2	25413423	157142209	Rat
1358901	Cm38	Cardiac mass QTL 38	2		heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	2	25413423	157142209	Rat
1358904	Cm39	Cardiac mass QTL 39	2.26		heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	2	25413423	157142209	Rat
1358908	Bw49	Body weight QTL 49	3.36		body mass (VT:0001259)	body weight (CMO:0000012)	2	25413652	157142078	Rat
1358910	Kidm27	Kidney mass QTL 27	5.77		kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	2	25413423	157142209	Rat
1358911	Kidm28	Kidney mass QTL 28	5.42		kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	2	25413423	157142209	Rat
1358913	Cm41	Cardiac mass QTL 41	2.73		heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	2	25413423	203928301	Rat
1358917	Cm42	Cardiac mass QTL 42	2.82		heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	2	25413423	203928301	Rat
1359030	Bp277	Blood pressure QTL 277			arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	114837527	185876470	Rat
1359030	Bp277	Blood pressure QTL 277			arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	114837527	185876470	Rat
1359035	Bp276	Blood pressure QTL 276			arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	114837527	143657569	Rat
1359035	Bp276	Blood pressure QTL 276			arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	114837527	143657569	Rat
61374	Edpm2	Estrogen-dependent pituitary mass QTL 2	4.42	0.86	pituitary gland mass (VT:0010496)	pituitary gland wet weight (CMO:0000853)	2	76539322	202447032	Rat
61392	Bp6	Blood pressure QTL 6	7		arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	2	80270434	125270434	Rat
5135226	Leukc2	Leukocyte quantity QTL 2			eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	2	118111229	149559726	Rat
7207808	Bmd89	Bone mineral density QTL 89	4.1		femur strength trait (VT:0010010)	femoral neck ultimate force (CMO:0001703)	2	88862519	133862519	Rat
8662836	Vetf8	Vascular elastic tissue fragility QTL 8	0.66		thoracic aorta molecular composition trait (VT:0010568)	aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio (CMO:0002003)	2	104559726	149559726	Rat
8662832	Vetf7	Vascular elastic tissue fragility QTL 7	3.5		aorta elastin amount (VT:0003905)	aorta wall extracellular elastin dry weight to aorta wall dry weight ratio (CMO:0002002)	2	81689826	221035911	Rat

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
9	11	49	113	91	90	59	25	59	6	218	97	93	45	60	31

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001012180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC114101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC116283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC081968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAXUCZ010000002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSRNOT00000021453 ⟹ ENSRNOP00000021453

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	2	119,434,760 - 119,474,396 (-)	Ensembl
Rnor_6.0 Ensembl	2	123,283,388 - 123,323,170 (-)	Ensembl

Ensembl Acc Id:

ENSRNOT00000100665 ⟹ ENSRNOP00000083941

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	2	119,434,761 - 119,474,365 (-)	Ensembl

Ensembl Acc Id:

ENSRNOT00000111410 ⟹ ENSRNOP00000079415

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	2	119,434,764 - 119,474,362 (-)	Ensembl

Ensembl Acc Id:

ENSRNOT00000112087 ⟹ ENSRNOP00000081105

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	2	119,434,760 - 119,473,794 (-)	Ensembl

RefSeq Acc Id:

NM_001012180 ⟹ NP_001012180

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	2	121,362,884 - 121,402,473 (-)	NCBI
mRatBN7.2	2	119,434,760 - 119,474,350 (-)	NCBI
Rnor_6.0	2	123,283,402 - 123,322,991 (-)	NCBI
Rnor_5.0	2	142,898,505 - 142,938,346 (-)	NCBI
RGSC_v3.4	2	123,070,273 - 123,109,862 (-)	RGD
Celera	2	114,392,644 - 114,432,336 (-)	RGD

Sequence:

show sequence

CGCTGCCCCAACACTAGCGCCTAGTCCTAGGTCTAGTGGTGGGCTCTCCGGGGGAAGGCTTCCT
CTTTAGCAAGCGGGTCCGGCCCCTTCCTTGCGGTCGCCATGGATCTGACGTTAAGCCGAGCAGA
CTATCTCCAGGTAGGAGTGACCTCTCAGAAGACTATGAAGTTGCTTCCTACCTCAAGACAAAGA
GCTACACAAAAGGTGGTCATTGGAGATCAAGATGGGGTGGTGATGTGCTTCGGCATGAAGAAAG
GCGAGGCGGTGTCAGTGTTCAAGACTTTACCAGGGCAGAAGGTTTCCAGGCTGGAACTAGGAGG
GGCTCTGAATACGCCTCAGGAGAAAATCTTCATTGCTGCAGGGTCCGAGATTAGAGGCTTTACA
AAGAGAGGGAAACAGTTTCTCTCTTTTGAAACAAACCTCACAGAAAGCATTAAAGCTATGTATA
TATCTGGCTCCGACCTCTTCCTCAGTGCCAGCTACATCTATAATCACTACTGTGACTGCAAAGA
CCAAAACTATTACCTTTCTGGGGACAAAATCAATGATGTCATCTGCCTTCCTGTGGAAAGGTTA
TCCCGTGTGACACCGGTGTTGGCCTGCCAGGACAGGGTTCTCCGAGTCTTACAGGGATCTGATG
TGACGTATGAAATCGAGGTTCCTGGTCCACCCACTGTCTTAGCGCTGCATAATGGAGACGGAGG
TGACTCTGGGGAAGGTCTTCTGTTCGGCACATCAGATGGAAGGCTTGGGCTTATTCAGATCACA
GCATCCAAACCAATACACAAATGGGAAATTCGAAATGACAAAAAGCGGGGAGGTATCTTGTGTC
TTGACAGCTTTGATATCATGGGTGATGGGGTTAAAGATTTACTTGTTGGGAGAGATGATGGAAT
GGTGGAAGTGTATAGTTTTGAGAATGCAAATGAACCCGTGCTACGATTTGATCAGATGCTGTCT
GAAAGTGTCACATCAGTCCAGGGTGGCTGTGTAGGGAAAGATGGTTATGACGAAATCGTGCTGG
CCACGTATTCAGGCTGGGTGACAGGGCTGACTACAGAGCCCACTCATAAGGAAAGTGGGCCAGG
AGAAGAACTGAAACTCAATCAGGAAATGCAGAATAAGATTGCTTCTTTAAGGACTGAATTAGAA
CATCTGCAGTTGAAGGTGCTTCAGGAGAGAGAAAATTACCAACAGTCTTCACAGTCGAGCCAAG
CAAAGTCAACAGTCCCTTCATTCAGTATAAACGACAAGTTCACATTGAATAAAGATGATGCTAG
CTACAGCCTTGTGTTAGAGGTGCGGACTGCAATAGATAATGTCTTAATACAGAGTGATGTTCCA
ATAGACCTACTCGATGTGGATAAGAATTCTGCTGTTGTGAGCTTTAGCAGCTGTGACACAGAGT
CAAACGACAACTTCCTTCTCGCCACTTATCGGTGCCAGGCAAACACCACCAGGCTGGAGCTCAA
GATCCGTTCAATTGAAGGCCAGTATGGCACACTCCAGGCATATGTGACTCCAAGAATCCAACCG
AAAACCTGTCAGGTTCGCCAGTACCACATCAAACCTCTGTCGCTCCATCAAAGAACTCACTTTA
TTGACCACGACAGGCCCATGAACACGCTGACTCTAACAGGCCAGTTCAGCTTCGCCGAGGTTCA
CTCCTGGGCCGTGCTCTGCCTGCCTGAAGTGCCGGAAAAGCCTCCAGCGGGGGAATGTGCAACT
TTCTACTTTCAGAATACCTTTCTGGACACACAGCTGGAGTGTGCATACAGAAAAGGAGAAGGAA
TCTTTAAATCTGACAACATCTCTACAATATCCATCCTAAAAGATGTGCTTTCTAAAGAAGCTAC
AAAAAGGAAAATTAATCTCAACATATCATACGAGATAAATGAAGTGTCAGTCAAGCATACTTTA
AAGCTAATTCACCCAAAGTTGGAGTACCAGTTGCTTCTGGCTAAGAAAGTACAGTTAATTGATG
CCTTGAAGGAATTACAGGTTCATGAGGGAAATACAAGCTTTCTGATTCCAGAGTATCGCTGTAT
CCTAGAAGAGGCTGATCATCTACAAGAGGAATACAAAAAGCAGCCTGCCCATCTTGAAAGACTC
TATGGTATGATTACTGATCTTTTCATAGATAAATTTAAGTTCAAAGGCACTAATGTAAAAACCA
AAGTACCTGTACTCCTGGAGATTCTCGACAGCTATGACCAGAACACACTGATTTCTTTCTTTGA
TGCAGCATGAAAGATAAACAAGGATTTGGAAGGATTCCCATTTTCTCTTCCTTGGTGACATGAT
CCTCCTGAAATCTGAAATACTTGGCTTAGTGCTGTAGACTGTGGCCAGCAAAGTAAGCAGAGCC
TGATCAGACCTGAGGGACCTCAGATGGATGTCTTTCCTGTGTGTAACCAGAAGAGTGATGGCTT
CAAAGATTCCCCCCTACTAGTATCCACAAAACTCCTTCTTATTGTACACGTGAGGGAAAAAAGA
AGACTTAAAAGCAACAGAAGTTTTAGTCATTCATTTCAGGGGAATATTGCATTGAAAGTTTTAA
AATACTAAAAAAATAAGAGAAAATAAGCTGTCTTTTGTTTTCAAAGGGTAAATATGAATTTTTC
AGAAAACAATAATTACATTTTATTATATTTTATGTGCAATTCTTAAATATTAAATACGAACATT
TAAGGCAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001012180	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH81968	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000021453.5
	ENSRNOP00000079415.1
	ENSRNOP00000081105.1
	ENSRNOP00000083941.1

RefSeq Acc Id:

NP_001012180 ⟸ NM_001012180

- UniProtKB:

Q66H90 (UniProtKB/TrEMBL), A0A8I6G5H8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDLTLSRADYLQVGVTSQKTMKLLPTSRQRATQKVVIGDQDGVVMCFGMKKGEAVSVFKTLPGQ
KVSRLELGGALNTPQEKIFIAAGSEIRGFTKRGKQFLSFETNLTESIKAMYISGSDLFLSASYI
YNHYCDCKDQNYYLSGDKINDVICLPVERLSRVTPVLACQDRVLRVLQGSDVTYEIEVPGPPTV
LALHNGDGGDSGEGLLFGTSDGRLGLIQITASKPIHKWEIRNDKKRGGILCLDSFDIMGDGVKD
LLVGRDDGMVEVYSFENANEPVLRFDQMLSESVTSVQGGCVGKDGYDEIVLATYSGWVTGLTTE
PTHKESGPGEELKLNQEMQNKIASLRTELEHLQLKVLQERENYQQSSQSSQAKSTVPSFSINDK
FTLNKDDASYSLVLEVRTAIDNVLIQSDVPIDLLDVDKNSAVVSFSSCDTESNDNFLLATYRCQ
ANTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLT
GQFSFAEVHSWAVLCLPEVPEKPPAGECATFYFQNTFLDTQLECAYRKGEGIFKSDNISTISIL
KDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQVHEGNTS
FLIPEYRCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPVLLEILDSYD
QNTLISFFDAA

hide sequence

Ensembl Acc Id:

ENSRNOP00000021453 ⟸ ENSRNOT00000021453

Ensembl Acc Id:

ENSRNOP00000081105 ⟸ ENSRNOT00000112087

Ensembl Acc Id:

ENSRNOP00000083941 ⟸ ENSRNOT00000100665

Ensembl Acc Id:

ENSRNOP00000079415 ⟸ ENSRNOT00000111410

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q66H90-F1-model_v2	AlphaFold	Q66H90	1-715	view protein structure

Transcriptome

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

Promoters

RGD ID:

13691292

Promoter ID:

EPDNEW_R1817

Type:

single initiation site

Name:

Bbs7_1

Description:

Bardet-Biedl syndrome 7

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Rat Assembly	Chr	Position (strand)	Source
Rnor_6.0	2	123,323,004 - 123,323,064	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	RGD:1309264	AgrOrtholog
BioCyc Gene	G2FUF-53315	BioCyc
Ensembl Genes	ENSRNOG00000015816	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000021453.7	UniProtKB/TrEMBL
	ENSRNOT00000100665.1	UniProtKB/TrEMBL
	ENSRNOT00000111410.1	UniProtKB/TrEMBL
	ENSRNOT00000112087.1	UniProtKB/TrEMBL
Gene3D-CATH	2.130.10.10	UniProtKB/TrEMBL
IMAGE_CLONE	IMAGE:7125501	IMAGE-MGC_LOAD
InterPro	Bardet-Biedl_syndrome_7_prot	UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/TrEMBL
	WD40_repeat_dom_sf	UniProtKB/TrEMBL
KEGG Report	rno:361930	UniProtKB/TrEMBL
MGC_CLONE	MGC:94101	IMAGE-MGC_LOAD
NCBI Gene	361930	ENTREZGENE
PANTHER	BARDET-BIEDL SYNDROME 7 PROTEIN	UniProtKB/TrEMBL
	BARDET-BIEDL SYNDROME 7 PROTEIN	UniProtKB/TrEMBL
PhenoGen	Bbs7	PhenoGen
PIRSF	BBS7	UniProtKB/TrEMBL
RatGTEx	ENSRNOG00000015816	RatGTEx
Superfamily-SCOP	WD40_like	UniProtKB/TrEMBL
UniProt	A0A8I5ZN21_RAT	UniProtKB/TrEMBL
	A0A8I5ZWY6_RAT	UniProtKB/TrEMBL
	A0A8I6G5H8	ENTREZGENE, UniProtKB/TrEMBL
	Q66H90	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2005-12-06	Bbs7	Bardet-Biedl syndrome 7	Bbs7_predicted	Bardet-Biedl syndrome 7 (predicted)	Symbol and Name updated	1559027	APPROVED
2005-01-12	Bbs7_predicted	Bardet-Biedl syndrome 7 (predicted)			Symbol and Name status set to approved	70820	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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