Bbs12 (Bardet-Biedl syndrome 12 (human)) - Rat Genome Database

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Gene: Bbs12 (Bardet-Biedl syndrome 12 (human)) Mus musculus
Analyze
Symbol: Bbs12
Name: Bardet-Biedl syndrome 12 (human)
RGD ID: 1622919
MGI Page MGI
Description: Predicted to enable ATP binding activity and ATP hydrolysis activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of fat cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; titanium dioxide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12 protein homolog; DN-452A22.3; Gm1805; Gm407; Gm721; MGC102209; RP23-137F6.2
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39337,366,695 - 37,383,334 (+)NCBIGRCm39mm39
GRCm39 Ensembl337,366,703 - 37,375,602 (+)Ensembl
GRCm38337,312,547 - 37,321,450 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl337,312,554 - 37,321,453 (+)EnsemblGRCm38mm10GRCm38
MGSCv37337,211,476 - 37,220,372 (+)NCBIGRCm37mm9NCBIm37
MGSCv36337,511,357 - 37,512,999 (+)NCBImm8
Celera337,199,189 - 37,201,589 (+)NCBICelera
Cytogenetic Map3BNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell projection  (IEA)
cilium  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:12477932   PMID:14610273   PMID:16141072   PMID:16141073   PMID:18799693   PMID:20080638   PMID:21267068  
PMID:21873635   PMID:22869374   PMID:22958920   PMID:32290105  


Genomics

Comparative Map Data
Bbs12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39337,366,695 - 37,383,334 (+)NCBIGRCm39mm39
GRCm39 Ensembl337,366,703 - 37,375,602 (+)Ensembl
GRCm38337,312,547 - 37,321,450 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl337,312,554 - 37,321,453 (+)EnsemblGRCm38mm10GRCm38
MGSCv37337,211,476 - 37,220,372 (+)NCBIGRCm37mm9NCBIm37
MGSCv36337,511,357 - 37,512,999 (+)NCBImm8
Celera337,199,189 - 37,201,589 (+)NCBICelera
Cytogenetic Map3BNCBI
BBS12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4122,732,702 - 122,744,942 (+)EnsemblGRCh38hg38GRCh38
GRCh384122,700,437 - 122,744,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374123,653,859 - 123,666,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364123,873,307 - 123,885,548 (+)NCBINCBI36hg18NCBI36
Celera4121,036,879 - 121,049,116 (+)NCBI
Cytogenetic Map4q27NCBI
HuRef4119,380,599 - 119,392,841 (+)NCBIHuRef
CHM1_14123,630,328 - 123,642,572 (+)NCBICHM1_1
Bbs12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22120,203,396 - 120,221,024 (+)NCBI
Rnor_6.0 Ensembl2124,054,282 - 124,056,795 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02124,048,513 - 124,057,026 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02143,656,706 - 143,674,099 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42123,866,711 - 123,868,846 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2115,156,465 - 115,159,003 (+)NCBICelera
Cytogenetic Map2q25NCBI
Bbs12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542817,958,750 - 17,960,873 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542817,957,672 - 17,966,638 (-)NCBIChiLan1.0ChiLan1.0
BBS12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14126,058,682 - 126,070,948 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4126,067,897 - 126,070,029 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04114,914,052 - 114,926,300 (+)NCBIMhudiblu_PPA_v0panPan3
BBS12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11917,537,840 - 17,550,443 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1917,538,346 - 17,540,487 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1917,752,570 - 17,768,637 (-)NCBI
ROS_Cfam_1.01917,656,306 - 17,668,715 (-)NCBI
UMICH_Zoey_3.11917,605,326 - 17,621,398 (-)NCBI
UNSW_CanFamBas_1.01917,889,177 - 17,901,599 (-)NCBI
UU_Cfam_GSD_1.01918,355,826 - 18,371,915 (-)NCBI
Bbs12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530165,287,443 - 65,297,059 (-)NCBI
SpeTri2.0NW_0049366621,822,727 - 1,832,403 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8101,420,649 - 101,430,015 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18101,354,891 - 101,435,417 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BBS12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1769,987,949 - 70,003,933 (+)NCBI
ChlSab1.1 Ensembl770,000,875 - 70,003,007 (+)Ensembl
Vero_WHO_p1.0NW_02366603748,957,967 - 48,974,067 (+)NCBI
Bbs12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247773,168,791 - 3,179,650 (+)NCBI


QTLs in Region (GRCm38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
26884436Zlq3_mzygomatic length QTL 3, 10 week (mouse)33200000142700000Mouse
1300559Thypr3_mthymocyte proliferative response 3 (mouse)Not determined3447125538471355Mouse
1558925Hivan1_mHIV-associated nephropathy 1 (mouse)Not determined3752111468809613Mouse
4142399Aec1_mautoimmune exocrinopathy 1 (mouse)Not determined7521114102782718Mouse
4141563Lgq3_mlate growth QTL 3 (mouse)Not determined1018416183277639Mouse
1357440Hrtpq1_mheart weight percentage QTL 1 (mouse)Not determined31018416183277639Mouse
1357857Lvrq5_mliver weight QTL 5 (mouse)Not determined31018416183277639Mouse
1357584Splq6_mspleen weight QTL 6 (mouse)Not determined31018416183277639Mouse
4141116Lgaq4_mlate growth adjusted QTL 4 (mouse)Not determined1018416183277639Mouse
4141255W10q3_mweight 10 weeks QTL 3 (mouse)Not determined1018416183277639Mouse
39128206Lwq18_mliver weight QTL 18 (mouse)31018416183277639Mouse
1301358Eae20_mexperimental allergic encephalomyelitis 20 (mouse)Not determined31157630445576442Mouse
26884427Cvht4_mcranial vault height 4, 10 week (mouse)316000000109800000Mouse
13207570Tcq12_mtotal cholesterol QTL 12 (mouse)316450000130370000Mouse
4142092Tgq13_mtriglyceride QTL 13 (mouse)Not determined1823401952234019Mouse
1301114Ssial2_msusceptibility to sialadenitis 2 (mouse)Not determined32012071354125954Mouse
26884422Cvht7_mcranial vault height 7, 16 week (mouse)328900000119100000Mouse
1302056Orgwq4_morgan weight QTL 4 (mouse)Not determined330013439147599053Mouse
1300961Bh4p_mbar holding four paws (mouse)Not determined33188340565883548Mouse
12910778Pwgrq13_mpost-weaning growth rate QTL 13 (mouse)33258161158109942Mouse
12910781Pwgrq12_mpost-weaning growth rate QTL 12 (mouse)33258161158109942Mouse
1357689Mdmsc1_mmodifier of muscularity 1 (mouse)Not determined33327305245962044Mouse
10412073Ssen2_msuseptibility to Sendai virus 2 (mouse)Not determined33358101667581166Mouse
9587784Afw13_mabdominal fat weight QTL 13 (mouse)Not determined33384462467844807Mouse
10043882Bwtq13_mbody weight QTL 13 (mouse)Not determined33384462467844807Mouse
15039332Nmrs6_mNAFLD-associated magnetic resonance shift 6 (mouse)33426332068263320Mouse
15039336Nmrs2_mNAFLD-associated magnetic resonance shift 2 (mouse)33466868268668682Mouse
18337272Bmd46_mbone mineral density 46, males (mouse)33550000069500000Mouse
14746977Manh53_mmandible shape 53 (mouse)33601785970017859Mouse
1301705Sles3_msystemic lupus erythmatosus suppressor 3 (mouse)Not determined337120713143647422Mouse
1300587Aod2_mautoimmune ovarian dysgenesis 2 (mouse)Not determined33712559368809613Mouse

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:236
Count of miRNA genes:100
Interacting mature miRNAs:109
Transcripts:ENSMUST00000057975, ENSMUST00000108121
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.


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000057975   ⟹   ENSMUSP00000052179
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl337,312,554 - 37,321,450 (+)Ensembl
RefSeq Acc Id: ENSMUST00000108121   ⟹   ENSMUSP00000103756
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl337,312,556 - 37,321,453 (+)Ensembl
RefSeq Acc Id: NM_001008502   ⟹   NP_001008502
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,703 - 37,375,599 (+)NCBI
GRCm38337,312,554 - 37,321,450 (+)NCBI
MGSCv37337,211,476 - 37,220,372 (+)RGD
Celera337,199,189 - 37,201,589 (+)RGD
cM Map3 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001255992   ⟹   NP_001242921
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,703 - 37,375,599 (+)NCBI
GRCm38337,312,554 - 37,321,450 (+)NCBI
Celera337,199,189 - 37,201,589 (+)ENTREZGENE
cM Map3 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006535480   ⟹   XP_006535543
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,807 - 37,383,334 (+)NCBI
GRCm38337,312,658 - 37,321,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011249682   ⟹   XP_011247984
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,695 - 37,383,334 (+)NCBI
GRCm38337,312,715 - 37,321,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030252614   ⟹   XP_030108474
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,900 - 37,383,334 (+)NCBI
GRCm38337,312,751 - 37,321,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036163097   ⟹   XP_036018990
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39337,366,695 - 37,383,334 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_001008502   ⟸   NM_001008502
- Peptide Label: isoform 1
- UniProtKB: Q5SUD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242921   ⟸   NM_001255992
- Peptide Label: isoform 2
- UniProtKB: Z4YKQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006535543   ⟸   XM_006535480
- Peptide Label: isoform X1
- UniProtKB: Q5SUD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011247984   ⟸   XM_011249682
- Peptide Label: isoform X1
- UniProtKB: Q5SUD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_030108474   ⟸   XM_030252614
- Peptide Label: isoform X2
RefSeq Acc Id: ENSMUSP00000103756   ⟸   ENSMUST00000108121
RefSeq Acc Id: ENSMUSP00000052179   ⟸   ENSMUST00000057975
RefSeq Acc Id: XP_036018990   ⟸   XM_036163097
- Peptide Label: isoform X1

Promoters
RGD ID:6880516
Promoter ID:EPDNEW_M3709
Type:initiation region
Name:Bbs12_1
Description:Mus musculus Bardet-Biedl syndrome 12 , transcript variant 2,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
GRCm38337,312,556 - 37,312,616EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2686651 AgrOrtholog
Ensembl Genes ENSMUSG00000051444 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000052179 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUSP00000103756 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000057975 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUST00000108121 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro BBS12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:241950 UniProtKB/Swiss-Prot
MGD MGI:2686651 ENTREZGENE
NCBI Gene 241950 ENTREZGENE
PANTHER PTHR46883 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bbs12 PhenoGen
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt BBS12_MOUSE UniProtKB/Swiss-Prot
  Q3U0J2_MOUSE UniProtKB/TrEMBL
  Q5SUD9 ENTREZGENE
  Z4YKQ3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A2AGT2 UniProtKB/Swiss-Prot