McKusick-Kaufman syndrome

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Synonym

MKKS, BBS6, Bardet-Biedl syndrome 6 protein, McKusick-Kaufman syndrome, HMCS, MKS

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:106.70 cerebellum:88.20 brain stem:- corpus callosum/glia:116.60 pineal gland:- peripheral nerve:30.70 spine:- retina:118.60 eye:111.70 artery/aorta:- vein:66.60 lymphnode:10.10 peripheral blood:72.90 spleen:113.40 thymus:77.30 bone marrow:- adipose:- bone:12.80 skin:62.40
GeneChip cerebrum:7.42 cerebellum:7.48 brain stem:7.54 corpus callosum/glia:6.70 pineal gland:- peripheral nerve:6.89 spine:6.76 retina:- eye:- artery/aorta:6.76 vein:6.45 lymphnode:6.44 peripheral blood:- spleen:6.45 thymus:6.80 bone marrow:5.94 adipose:6.64 bone:- skin:6.56
CAGE cerebrum:4.08 cerebellum:- brain stem:3.83 corpus callosum/glia:3.36 pineal gland:4.02 peripheral nerve:- spine:3.74 retina:- eye:- artery/aorta:3.39 vein:3.47 lymphnode:3.37 peripheral blood:- spleen:3.48 thymus:3.01 bone marrow:- adipose:3.47 bone:- skin:-
RNA-seq cerebrum:0.11 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:0.00 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:0.00 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:164 placenta:32.80 prostate:78.90 ovary:- testis:90.90 heart:102.20 muscle:40.20 esophagus:- stomach:42.50 intestine:129.60 colon:25.40     liver/hepato:63.30        lung:58.70    bladder:251.20 kidney:62.40 pituitary:- thyroid/parathyroid:- adrenal gland:101.60 pancreas:- breast:46.50 salivary:-
GeneChip uterus:6.84 placenta:5.80 prostate:7.31 ovary:6.87 testis:7.49 heart:6.74 muscle:7.42 esophagus:6.82 stomach:6.63 intestine:6.77 colon:6.22 liver/hepato:6.91 lung:6.47 bladder:- kidney:7.31 pituitary:7.09 thyroid/parathyroid:7.01 adrenal gland:6.73 pancreas:6.11 breast:6.49 salivary:6.66
CAGE uterus:3.46 placenta:3.14 prostate:3.44 ovary:3.35 testis:4.06 heart:4.17 muscle:3.83 esophagus:3.73 stomach:- intestine:4.06 colon:3.94     liver/hepato:4.22    lung:3.47 bladder:3.52 kidney:4.06 pituitary:3.99 thyroid/parathyroid:3.68 adrenal gland:- pancreas:3.40 breast:3.81 salivary:3.97
RNA-seq uterus:- placenta:- prostate:0.20 ovary:0.00 testis:1.79 heart:0.00 muscle:0.00 esophagus:- stomach:- intestine:- colon:0.12     liver/hepato:0.00        lung:0.00    bladder:- kidney:0.00 pituitary:- thyroid/parathyroid:0.00 adrenal gland:0.00 pancreas:- breast:0.00 salivary:-

Gene Information

IDs

Refseq ID NM_018848
Gene ID 8195
Unigene ID Hs.472119
Probe set ID 218138_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000125863
GTEx ID ENSG00000125863

Orthologous Gene

Mouse[4]  NM_001141946, NM_021527
Rat[1]  NM_001008353, NM_021527

Chromosomal Region

20p12.2  [10,385,832  -  10,414,870]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

9467007
10802661
10973238
10973251
11076863
11179009
11230166
11256614
11567139
11780052
12107442
12477932
12837689
15483080
15489336
15731008
16169070
16327777
16344560
16381901
17003356
17353931
18029348
18094050
18813213
19077438
19247371
19876004
19913121
20193073
20301537
20301675
20301743
20472660
20628086
20801516
21270763
21832049
22500027
23671934
23716571
24250222

Gene Ontology  (GO ID)

Biological Process

GO:0014824  artery smooth muscle contraction
GO:0048854  brain morphogenesis
GO:0021987  cerebral cortex development
GO:0051131  chaperone-mediated protein complex assembly
GO:0042384  cilium assembly
GO:0060271  cilium morphogenesis
GO:0060027  convergent extension involved in gastrulation
GO:0050910  detection of mechanical stimulus involved in sensory perception of sound
GO:0007368  determination of left/right symmetry
GO:0045444  fat cell differentiation
GO:0008406  gonad development
GO:0007507  heart development
GO:0001947  heart looping
GO:0021766  hippocampus development
GO:0046907  intracellular transport
GO:0032402  melanosome transport
GO:0045776  negative regulation of blood pressure
GO:0010629  negative regulation of gene expression
GO:0045494  photoreceptor cell maintenance
GO:0051877  pigment granule aggregation in cell center
GO:0040018  positive regulation of multicellular organism growth
GO:0006457  protein folding
GO:0060296  regulation of cilium beat frequency involved in ciliary motility
GO:0035058  sensory cilium assembly
GO:0007608  sensory perception of smell
GO:0035176  social behavior
GO:0007286  spermatid development
GO:0021756  striatum development
GO:0042311  vasodilation
GO:0007601  visual perception

Cellular Component

GO:0005813  centrosome
GO:0005829  cytosol
GO:0005622  intracellular
GO:0031514  motile secondary cilium

Molecular Function

GO:0005524  ATP binding
GO:0005515  protein binding
GO:0051082  unfolded protein binding