Bardet-Biedl syndrome 4

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Synonym

Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 protein, BBS4

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:40.30 cerebellum:37.80 brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:112.30 retina:237.30 eye:47 artery/aorta:30 vein:- lymphnode:30.30 peripheral blood:18.20 spleen:37.80 thymus:25.80 bone marrow:216.50 adipose:40.30 bone:- skin:62.40
GeneChip cerebrum:5.78 cerebellum:5.10 brain stem:6.20 corpus callosum/glia:5.56 pineal gland:- peripheral nerve:6.23 spine:5.77 retina:- eye:- artery/aorta:5.87 vein:5.44 lymphnode:5.94 peripheral blood:- spleen:5.96 thymus:5.93 bone marrow:5.02 adipose:5.81 bone:- skin:5.56
CAGE cerebrum:2.62 cerebellum:- brain stem:2.83 corpus callosum/glia:2.92 pineal gland:3.61 peripheral nerve:- spine:2.72 retina:- eye:- artery/aorta:2.62 vein:2.18 lymphnode:1.97 peripheral blood:- spleen:2.09 thymus:2.47 bone marrow:- adipose:2.27 bone:- skin:-
RNA-seq cerebrum:2.57 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:1.55 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.79 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:136.70 placenta:18.20 prostate:78.90 ovary:- testis:129.80 heart:76.60 muscle:40.20 esophagus:- stomach:85 intestine:64.80 colon:8.50     liver/hepato:31.70        lung:88    bladder:125.60 kidney:62.40 pituitary:- thyroid/parathyroid:163.70 adrenal gland:101.60 pancreas:- breast:9.30 salivary:328.40
GeneChip uterus:6.02 placenta:4.88 prostate:7.29 ovary:6.26 testis:7.03 heart:5.71 muscle:5.81 esophagus:5.55 stomach:5.80 intestine:5.20 colon:5 liver/hepato:6.15 lung:5.30 bladder:- kidney:6.22 pituitary:7.11 thyroid/parathyroid:6.87 adrenal gland:6.46 pancreas:5.39 breast:6.15 salivary:5.49
CAGE uterus:2.75 placenta:2.00 prostate:2.62 ovary:2.40 testis:3.37 heart:2.17 muscle:2.21 esophagus:2.24 stomach:- intestine:2.17 colon:2.30     liver/hepato:2.33    lung:2.31 bladder:2.63 kidney:2.63 pituitary:3.56 thyroid/parathyroid:2.52 adrenal gland:- pancreas:2.26 breast:2.02 salivary:1.95
RNA-seq uterus:- placenta:- prostate:3.25 ovary:2.53 testis:3.47 heart:2.25 muscle:2.02 esophagus:- stomach:- intestine:- colon:1.64     liver/hepato:1.01        lung:2.37    bladder:- kidney:2.74 pituitary:- thyroid/parathyroid:3.22 adrenal gland:1.73 pancreas:- breast:2.27 salivary:-

Gene Information

IDs

Refseq ID NM_033028
Gene ID 585
Unigene ID Hs.208681
Probe set ID 212744_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000140463
GTEx ID ENSG00000140463

Orthologous Gene

Mouse[1]  NM_175325
Rat[1]  NM_001106826

Chromosomal Region

15q24.1  [72,978,527  -  73,030,817]

Gene Family (Interpro ID)

IPR019734  Tetratricopeptide repeat

Link to Pubmed  (Pubmed ID)

7711739
8889548
9126487
11381270
12016587
12365916
12477932
12872256
14520415
14702039
15107855
15489334
15497446
17003356
17574030
18000879
18029348
18299575
19077438
20301537
20301743
20379614
20508983
20801516
21145461
21906983
22219648
23554981
23716571
24691443

Gene Ontology  (GO ID)

Biological Process

GO:0030534  adult behavior
GO:0048854  brain morphogenesis
GO:0051297  centrosome organization
GO:0021987  cerebral cortex development
GO:0042384  cilium assembly
GO:0060271  cilium morphogenesis
GO:0060027  convergent extension involved in gastrulation
GO:0000910  cytokinesis
GO:0016358  dendrite development
GO:0045444  fat cell differentiation
GO:0001947  heart looping
GO:0021766  hippocampus development
GO:0046907  intracellular transport
GO:0051457  maintenance of protein location in nucleus
GO:0032402  melanosome transport
GO:0034454  microtubule anchoring at centrosome
GO:0000226  microtubule cytoskeleton organization
GO:0010629  negative regulation of gene expression
GO:0003085  negative regulation of systemic arterial blood pressure
GO:0001843  neural tube closure
GO:0045494  photoreceptor cell maintenance
GO:0051877  pigment granule aggregation in cell center
GO:0045724  positive regulation of flagellum assembly
GO:0040018  positive regulation of multicellular organism growth
GO:0033365  protein localization in organelle
GO:0060296  regulation of cilium beat frequency involved in ciliary motility
GO:0032465  regulation of cytokinesis
GO:0019216  regulation of lipid metabolic process
GO:0001895  retina homeostasis
GO:0046548  retinal rod cell development
GO:0035058  sensory cilium assembly
GO:0007608  sensory perception of smell
GO:0050893  sensory processing
GO:0007286  spermatid development
GO:0021756  striatum development
GO:0007601  visual perception

Cellular Component

GO:0034464  BBSome
GO:0034451  centriolar satellite
GO:0005814  centriole
GO:0005813  centrosome
GO:0060170  cilium membrane
GO:0005737  cytoplasm
GO:0005932  microtubule basal body
GO:0031514  motile secondary cilium
GO:0031513  nonmotile primary cilium
GO:0000242  pericentriolar material

Molecular Function

GO:0043014  alpha-tubulin binding
GO:0048487  beta-tubulin binding
GO:0034452  dynactin binding
GO:0003777  microtubule motor activity
GO:0005515  protein binding