BBS4

GENERAL INFORMATION

? »

Gene name

BBS4

Gene description

Bardet-Biedl syndrome 4

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression, most abundant in lymphoid cells.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA039418
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

BBS4

Synonyms

Description

Bardet-Biedl syndrome 4 (HGNC Symbol)

Entrez gene summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein ""BBSome"" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

Chromosome

15

Cytoband

q24.1

Chromosome location (bp)

72686179 - 72738476

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000140463 (version 78.38)

Entrez gene

585

UniProt

Q96RK4 (UniProt - Evidence at protein level)

neXtProt

NX_Q96RK4

Antibodypedia

BBS4 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000268057
 
ENST00000395205
 
ENST00000566197
 
ENST00000566829
 
ENST00000569338
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBS4-001 ENSP00000268057
ENST00000268057
Q96RK4
Show all »
Show » Show » 519 58.3 No 0
BBS4-011 ENSP00000455958
ENST00000566829
H3BQV7
Show all »
Show » Show » 141 16.3 No 0
BBS4-013 ENSP00000457479
ENST00000566197
Show » 181 19.5 No 0
BBS4-016 ENSP00000456758
ENST00000569338
H3BSL2
Show all »
Show » Show » 281 32.2 No 0
BBS4-201 ENSP00000378631
ENST00000395205
Q96RK4
Show all »
Show » Show » 347 38.3 No 0