ceroid-lipofuscinosis, neuronal 3

 jump to detail

Synonym

MGC102840, BTS, Protein CLN3, CLN3, Battenin, Batten disease protein

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:69.90 cerebellum:151.10 brain stem:- corpus callosum/glia:58.30 pineal gland:- peripheral nerve:30.70 spine:- retina:- eye:82.30 artery/aorta:30 vein:133.30 lymphnode:50.60 peripheral blood:309.70 spleen:113.40 thymus:141.70 bone marrow:- adipose:40.30 bone:89.60 skin:9.60
GeneChip cerebrum:5.74 cerebellum:5.45 brain stem:5.81 corpus callosum/glia:5.91 pineal gland:- peripheral nerve:6.28 spine:5.95 retina:- eye:- artery/aorta:6.19 vein:5.93 lymphnode:6.57 peripheral blood:- spleen:6.23 thymus:6.33 bone marrow:6.43 adipose:6.32 bone:- skin:6.48
CAGE cerebrum:2.71 cerebellum:- brain stem:2.74 corpus callosum/glia:3.09 pineal gland:2.33 peripheral nerve:- spine:2.71 retina:- eye:- artery/aorta:2.70 vein:2.63 lymphnode:2.83 peripheral blood:- spleen:2.41 thymus:2.47 bone marrow:- adipose:2.89 bone:- skin:-
RNA-seq cerebrum:0.99 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:2.63 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.87 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:100.20 placenta:225.90 prostate:123.90 ovary:149.10 testis:60.60 heart:12.80 muscle:40.20 esophagus:342.80 stomach:85 intestine:194.40 colon:178.10     liver/hepato:10.60        lung:63.50    bladder:125.60 kidney:249.50 pituitary:- thyroid/parathyroid:- adrenal gland:152.40 pancreas:8.90 breast:139.40 salivary:328.40
GeneChip uterus:6.18 placenta:7.40 prostate:6.63 ovary:6.16 testis:6.06 heart:5.84 muscle:6.18 esophagus:6.42 stomach:6.47 intestine:6.20 colon:7.13 liver/hepato:6.30 lung:6.68 bladder:- kidney:6.59 pituitary:5.86 thyroid/parathyroid:6.76 adrenal gland:6.34 pancreas:6.22 breast:6.82 salivary:7.12
CAGE uterus:2.70 placenta:3.61 prostate:2.91 ovary:2.73 testis:2.63 heart:2.36 muscle:2.31 esophagus:2.77 stomach:- intestine:2.94 colon:3.29     liver/hepato:3.08    lung:3.17 bladder:2.61 kidney:3.12 pituitary:2.11 thyroid/parathyroid:3.32 adrenal gland:- pancreas:3.10 breast:3.02 salivary:3.32
RNA-seq uterus:- placenta:- prostate:2.05 ovary:2.24 testis:1.55 heart:0.61 muscle:1.25 esophagus:- stomach:- intestine:- colon:1.37     liver/hepato:0.71        lung:2.47    bladder:- kidney:1.90 pituitary:- thyroid/parathyroid:1.90 adrenal gland:2.48 pancreas:- breast:1.12 salivary:-

Gene Information

IDs

Refseq ID NM_001042432
Gene ID 1201
Unigene ID Hs.628393
Probe set ID 210859_x_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000188603
GTEx ID ENSG00000188603

Orthologous Gene

Mouse[2]  NM_001146311, NM_009907
Rat[1]  NM_001006971, NM_009907

Chromosomal Region

16p11.2  [28,477,983  -  28,503,623]

Gene Family (Interpro ID)

IPR003492  Batten's disease protein Cln3
IPR018460  Batten's disease protein Cln3, subgroup
IPR016196  Major facilitator superfamily, general substrate transporter

Link to Pubmed  (Pubmed ID)

2271648
7553855
7887420
8980123
9004140
9119403
9311735
9384607
9450775
9490299
9949212
10191111
10191112
10191115
10191116
10332042
10493829
10509355
10740217
10924275
11375929
11590129
11699874
11722572
12125809
12134079
12189165
12440525
12477932
12706816
14622109
14660799
14699076
14702039
14759258
15032383
15240430
15240864
15302935
15342556
15469932
15471887
15489334
15598649
15657902
16087292
16251196
16291725
16344560
16515873
16714284
17081983
17189291
17286803
17482562
17868323
17896996
17897319
17947292
18187620
18265413
18317235
18552385
18678598
18817525
19028667
19299465
19322201
19489875
19915574
20015955
20187884
20301334
20301601
20562859
20875858
20933060
20972266
21102463
21139048
21359198
21890473
21906983
21963094
21987636
22053931
22261744
23464991
23840424
24154662

Gene Ontology  (GO ID)

Biological Process

GO:0042987  amyloid precursor protein catabolic process
GO:0015809  arginine transport
GO:0008306  associative learning
GO:0000046  autophagic vacuole fusion
GO:0008219  cell death
GO:0006520  cellular amino acid metabolic process
GO:0006672  ceramide metabolic process
GO:0051480  cytosolic calcium ion homeostasis
GO:0006681  galactosylceramide metabolic process
GO:0001575  globoside metabolic process
GO:0006678  glucosylceramide metabolic process
GO:0035235  ionotropic glutamate receptor signaling pathway
GO:0007042  lysosomal lumen acidification
GO:0007040  lysosome organization
GO:0016236  macroautophagy
GO:0016044  membrane organization
GO:0043066  negative regulation of apoptosis
GO:0043086  negative regulation of catalytic activity
GO:0016242  negative regulation of macroautophagy
GO:0043524  negative regulation of neuron apoptosis
GO:0045861  negative regulation of proteolysis
GO:0050885  neuromuscular process controlling balance
GO:0042133  neurotransmitter metabolic process
GO:0030163  protein catabolic process
GO:0006457  protein folding
GO:0016485  protein processing
GO:0006898  receptor-mediated endocytosis
GO:0001508  regulation of action potential
GO:0006684  sphingomyelin metabolic process
GO:0007034  vacuolar transport
GO:0047496  vesicle transport along microtubule

Cellular Component

GO:0005776  autophagic vacuole
GO:0005901  caveola
GO:0005737  cytoplasm
GO:0005769  early endosome
GO:0005783  endoplasmic reticulum
GO:0005794  Golgi apparatus
GO:0000139  Golgi membrane
GO:0005795  Golgi stack
GO:0030176  integral to endoplasmic reticulum membrane
GO:0016021  integral to membrane
GO:0005770  late endosome
GO:0005765  lysosomal membrane
GO:0005764  lysosome
GO:0045121  membrane raft
GO:0005739  mitochondrion
GO:0043005  neuron projection
GO:0005634  nucleus
GO:0005886  plasma membrane
GO:0008021  synaptic vesicle
GO:0005802  trans-Golgi network

Molecular Function

GO:0005515  protein binding
GO:0051082  unfolded protein binding