ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

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Synonym

Protein CLN8, CLN8, EPMR

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:46.20 cerebellum:50.40 brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:5.90 artery/aorta:- vein:66.60 lymphnode:40.40 peripheral blood:145.70 spleen:132.30 thymus:12.90 bone marrow:- adipose:40.30 bone:38.40 skin:24
GeneChip cerebrum:6.75 cerebellum:5.97 brain stem:6.81 corpus callosum/glia:7.67 pineal gland:- peripheral nerve:6.63 spine:7.22 retina:- eye:- artery/aorta:5.47 vein:5.44 lymphnode:6.35 peripheral blood:- spleen:6.77 thymus:5.82 bone marrow:5.13 adipose:5.48 bone:- skin:6.20
CAGE cerebrum:3.00 cerebellum:- brain stem:3.55 corpus callosum/glia:3.86 pineal gland:2.67 peripheral nerve:- spine:3.41 retina:- eye:- artery/aorta:2.50 vein:2.62 lymphnode:2.73 peripheral blood:- spleen:2.40 thymus:2.18 bone marrow:- adipose:2.70 bone:- skin:-
RNA-seq cerebrum:2.88 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:2.09 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.49 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:9.10 placenta:54.60 prostate:45.10 ovary:37.30 testis:21.60 heart:- muscle:- esophagus:- stomach:21.20 intestine:64.80 colon:8.50     liver/hepato:31.70        lung:29.30    bladder:- kidney:41.60 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:8.90 breast:- salivary:-
GeneChip uterus:5.49 placenta:5.54 prostate:5.84 ovary:5.24 testis:5.30 heart:5.60 muscle:5.15 esophagus:6.31 stomach:5.84 intestine:5.20 colon:5.48 liver/hepato:6.73 lung:6.83 bladder:- kidney:7.07 pituitary:5.86 thyroid/parathyroid:5.98 adrenal gland:6.22 pancreas:5.71 breast:6.22 salivary:5.68
CAGE uterus:2.22 placenta:2.70 prostate:2.10 ovary:1.88 testis:2.54 heart:2.28 muscle:1.66 esophagus:2.30 stomach:- intestine:2.12 colon:2.22     liver/hepato:2.34    lung:2.86 bladder:2.46 kidney:2.41 pituitary:2.25 thyroid/parathyroid:1.64 adrenal gland:- pancreas:2.48 breast:2.41 salivary:2.72
RNA-seq uterus:- placenta:- prostate:1.16 ovary:1.42 testis:1.91 heart:1.56 muscle:1.02 esophagus:- stomach:- intestine:- colon:1.05     liver/hepato:1.71        lung:1.96    bladder:- kidney:2.52 pituitary:- thyroid/parathyroid:1.72 adrenal gland:2.10 pancreas:- breast:2.03 salivary:-

Gene Information

IDs

Refseq ID NM_018941
Gene ID 2055
Unigene ID Hs.127675
Probe set ID 219341_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000182372
GTEx ID ENSG00000182372

Orthologous Gene

Mouse[6]  NM_012000
Rat[1]  NM_001007686

Chromosomal Region

8p23.3  [1,703,944  -  1,734,738]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

8743986
10508524
10740217
10861296
11073227
12151215
12477932
14508709
14702039
15024724
15489334
16086686
16344560
17129765
19201763
19431184
19807737
20301334
20301601
22388998
22964447
23142642
23160995
24250222

Gene Ontology  (GO ID)

Biological Process

GO:0007628  adult walking behavior
GO:0001306  age-dependent response to oxidative stress
GO:0008306  associative learning
GO:0008219  cell death
GO:0044257  cellular protein catabolic process
GO:0046513  ceramide biosynthetic process
GO:0006672  ceramide metabolic process
GO:0008203  cholesterol metabolic process
GO:0051935  glutamate uptake during transmission of nerve impulse
GO:0008610  lipid biosynthetic process
GO:0006869  lipid transport
GO:0007040  lysosome organization
GO:0007006  mitochondrial membrane organization
GO:0050881  musculoskeletal movement
GO:0043066  negative regulation of apoptosis
GO:0045861  negative regulation of proteolysis
GO:0051348  negative regulation of transferase activity
GO:0007399  nervous system development
GO:0060052  neurofilament cytoskeleton organization
GO:0050885  neuromuscular process controlling balance
GO:0050884  neuromuscular process controlling posture
GO:0006644  phospholipid metabolic process
GO:0045494  photoreceptor cell maintenance
GO:0030163  protein catabolic process
GO:0008361  regulation of cell size
GO:0060041  retina development in camera-type eye
GO:0035176  social behavior
GO:0021523  somatic motor neuron differentiation
GO:0007601  visual perception

Cellular Component

GO:0005783  endoplasmic reticulum
GO:0005789  endoplasmic reticulum membrane
GO:0005793  ER-Golgi intermediate compartment
GO:0033116  ER-Golgi intermediate compartment membrane
GO:0016021  integral to membrane