Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: BBS7 (Bardet-Biedl syndrome 7) Homo sapiens
Analyze
Symbol: BBS7
Name: Bardet-Biedl syndrome 7
Description: Exhibits RNA polymerase II repressing transcription factor binding activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process and regulation of transcription by RNA polymerase II. Localizes to the BBSome and centrosome. Implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS2-like protein 1; BBS2L1; FLJ10715
Orthologs:
Mus musculus (house mouse) : Bbs7 (Bardet-Biedl syndrome 7 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbs7 (Bardet-Biedl syndrome 7)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbs7 (Bardet-Biedl syndrome 7)
Pan paniscus (bonobo/pygmy chimpanzee) : BBS7 (Bardet-Biedl syndrome 7)
Canis lupus familiaris (dog) : BBS7 (Bardet-Biedl syndrome 7)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbs7 (Bardet-Biedl syndrome 7)
Chlorocebus sabaeus (African green monkey) : BBS7 (Bardet-Biedl syndrome 7)
Heterocephalus glaber (naked mole-rat) : Bbs7 (Bardet-Biedl syndrome 7)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl4121,824,329 - 121,870,487 (-)EnsemblGRCh38hg38GRCh38
GRCh384121,824,329 - 121,870,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374122,745,484 - 122,791,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364122,965,085 - 123,011,092 (-)NCBINCBI36hg18NCBI36
Build 344123,103,239 - 123,149,247NCBI
Celera4120,131,451 - 120,177,481 (-)NCBI
Cytogenetic Map4q27NCBI
HuRef4118,472,168 - 118,518,368 (-)NCBIHuRef
CHM1_14122,721,951 - 122,768,104 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on BBS7
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1319511
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.