Tissue expression of CLN8 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	CLN8
Gene description	Ceroid-lipofuscinosis, neuronal 8
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	CLN8 (HGNC Symbol)
Synonyms	C8orf61, EPMR, FLJ39417
Description	Ceroid-lipofuscinosis, neuronal 8 (HGNC Symbol)
Entrez gene summary	This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
Chromosome	8
Cytoband	p23.3
Chromosome location (bp)	1755778 - 1786572
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000182372 (version 83.38)
Entrez gene	2055
UniProt	Q9UBY8 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UBY8
Antibodypedia	CLN8 antibodies

PROTEIN BROWSER

CLN8-001	CLN8-002	CLN8-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CLN8-001 ENSP00000328182 ENST00000331222	Q9UBY8 [Direct mapping] Protein CLN8 A0A024QZ57 [Target identity:100%; Query identity:100%] Ceroid-lipofuscinosis, neuronal 8 (Epilepsy, progressive with mental retardation), isoform CRA_a Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001306 [age-dependent response to oxidative stress] GO:0005739 [mitochondrion] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005793 [endoplasmic reticulum-Golgi intermediate compartment] GO:0006644 [phospholipid metabolic process] GO:0006672 [ceramide metabolic process] GO:0006869 [lipid transport] GO:0007006 [mitochondrial membrane organization] GO:0007040 [lysosome organization] GO:0007399 [nervous system development] GO:0007601 [visual perception] GO:0007628 [adult walking behavior] GO:0008203 [cholesterol metabolic process] GO:0008306 [associative learning] GO:0008344 [adult locomotory behavior] GO:0008361 [regulation of cell size] GO:0008610 [lipid biosynthetic process] GO:0016021 [integral component of membrane] GO:0021522 [spinal cord motor neuron differentiation] GO:0021523 [somatic motor neuron differentiation] GO:0030163 [protein catabolic process] GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0035176 [social behavior] GO:0043066 [negative regulation of apoptotic process] GO:0044257 [cellular protein catabolic process] GO:0044265 [cellular macromolecule catabolic process] GO:0044267 [cellular protein metabolic process] GO:0045494 [photoreceptor cell maintenance] GO:0045861 [negative regulation of proteolysis] GO:0046513 [ceramide biosynthetic process] GO:0050881 [musculoskeletal movement] GO:0050884 [neuromuscular process controlling posture] GO:0050885 [neuromuscular process controlling balance] GO:0051935 [glutamate reuptake] GO:0060041 [retina development in camera-type eye] GO:0060052 [neurofilament cytoskeleton organization] Show all	286 aa 32.8 kDa	No	8
CLN8-002 ENSP00000488898 ENST00000524258		Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all		80 aa 8.7 kDa	No	1
CLN8-004 ENSP00000487905 ENST00000520991		Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	177 aa 19.7 kDa	No	4