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FLASH GENE

Symbol

BBS7

contributors: mct/npt/pgu - updated : 19-05-2015

HGNC name	Bardet-Biedl syndrome 7
HGNC id	18758

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BBS7 Bardet-Biedl syndrome 7
Location	4q27      Physical location : 122.745.638 - 122.791.642
Synonym name	BBS2-like protein 1
Synonym symbol(s)	BBS2L1, FLJ10715

DNA

TYPE	functioning gene
STRUCTURE	46.17 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018190 18 - 2625 NP_060660 - 672 ubiquitous 2006 16327777 NM_176824 19 - 3863 NP_789794 78.5 715 - 2006 16327777

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel         Reproductive male system prostate       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	beta-propeller region
	coiled- coil region

HOMOLOGY

interspecies

ortholog to murine Bbs2l1

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	ciliated neurons and basal bodies

basic FUNCTION	involved in planar cell polarity
	required for normal localization of specific intraflagellar transport
	required for the localization of G protein-coupled receptors to primary cilia on central neurons
	mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
	probably has a nuclear role by virtue of the presence of a biologically confirmed nuclear export signal
	is required for BBSome formation, and BBS7 and BBS2 depend on each other for protein stability
	is involved in specific membrane protein localization to cilia
	play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	putatively involved on eye, limb, cardiac, reproductive developement

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

a component	part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium
	BBS7 interacts with BBS2 and becomes part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome

INTERACTION

DNA

RNA

small molecule

protein	interacting with VANGL2
	interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BBS7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   rescues head size and neuroanatomical defects of KCTD13 morphants

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS