BBS7 (Bardet-Biedl syndrome 7)

2014-11-01 Affiliation

Identity

HGNC

BBS7

LOCATION

4q27

LOCUSID

55212

ALIAS

BBS2L1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55212
MIM: 607590
HGNC: 18758
Ensembl: ENSG00000138686

Variants:

dbSNP: 55212
ClinVar: 55212
TCGA: ENSG00000138686
COSMIC: BBS7

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138686	ENST00000264499	Q8IWZ6
ENSG00000138686	ENST00000506636	Q8IWZ6
ENSG00000138686	ENST00000507814	H0Y973

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
BBSome-mediated cargo-targeting to cilium	REACTOME	R-HSA-5620922

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36672825	2022	Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.	2
36672825	2022	Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.	2
33729075	2021	Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.	6
33729075	2021	Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.	6
31469663	2020	A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.	1
31469663	2020	A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.	1
31530639	2019	Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.	5
31530639	2019	Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.	5
28761321	2017	Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.	13
28761321	2017	Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.	13
27004616	2016	Expansion of phenotype and genotypic data in CRB2-related syndrome.	21
27004616	2016	Expansion of phenotype and genotypic data in CRB2-related syndrome.	21
25553308	2015	Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.	7
25553308	2015	Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.	7
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	12

Citation

Dessen P

BBS7 (Bardet-Biedl syndrome 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60720