Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CLN8 Gene

protein-coding GIFtS: 55
GCID: GC08P001699

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive...

(Previous name: chromosome 8 open reading frame 61 )
(Previous symbols: EPMR, C8orf61)

Explore 16 diseases affiliated with
CLN8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive With Mental Retardation)¹ ²
C8orf61¹ ² ³
EPMR¹ ² ⁵
FLJ39417¹
Chromosome 8 Open Reading Frame 61¹
Protein CLN8²

External Ids:	HGNC: 2079¹	Entrez Gene: 2055²	Ensembl: ENSG00000182372⁷	OMIM: 607837⁵	UniProtKB: Q9UBY8³

Export aliases for CLN8 gene to outside databases

Previous GC identifers: GC08U990020 GC08P002420 GC08P001862 GC08P001526

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLN8:

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)

UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8

Function: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death

Gene Wiki entry for CLN8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_023736.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CLN8 gene promoter:
AML1a MyoD AP-2gamma Nkx5-1 HEN1 STAT3 AP-2beta AP-2alpha AP-2alphaA ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLN8 promoter sequence

Search SABiosciences Chromatin IP Primers for CLN8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLN8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23 Ensembl cytogenetic band: 8p23.3 HGNC cytogenetic band: 8p23.3

CLN8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN8 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P001699: view genomic region (about GC identifiers)

Start:	1,703,944 bp from pter	End:	1,734,738 bp from pter
Size:	30,795 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8 (See protein sequence)

Recommended Name: Protein CLN8

Size: 286 amino acids; 32787 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi

intermediate compartment membrane; Multi-pass membrane protein

Secondary accessions: Q86U71 Q96I95

Explore the universe of human proteins at neXtProt for CLN8: NX_Q9UBY8

Post-translational modifications:

Does not seem to be N-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UBY8

CLN8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_061764.2

ENSEMBL proteins:

ENSP00000328182

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: CLN8 OriGene Custom Protein Services for CLN8
	GenScript Custom Purified and Recombinant Proteins Services for CLN8
	Novus Biologicals CLN8 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CLN8

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	IDA	10861296
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	10861296
GO:0016021	integral to membrane	NAS	10861296

CLN8 for ontologies About GeneDecksing

CLN8 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for CLN8
	GenScript Custom Superior Antibodies Services for CLN8
	Novus Biologicals CLN8 Antibodies
	Search for Antibodies for CLN8 at Abcam
	Uscn Antibodies for CLN8
	Search ThermoFisher Antibodies for CLN8

Assay Products for CLN8:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CLN8
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CLN8

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CLN8 for domains About GeneDecksing

1 InterPro domain/family:

IPR006634 TLC-dom

Graphical View of Domain Structure for InterPro Entry Q9UBY8

ProtoNet protein and cluster: Q9UBY8

1 Blocks protein family: IPB006634 TRAM

UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8

Similarity: Contains 1 TLC (TRAM/LAG1/CLN8) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8

Function: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death

Genatlas biochemistry entry for CLN8:

putative transmembrane protein homologous to mouse mnd

miRNA Products:		OriGene 3'-UTR Clone: CLN8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLN8
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN8:
		hsa-miR-515-5p hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-519e* hsa-miR-30e
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLN8 (see all 7) OriGene shRNA RFP: CLN8 OriGene siRNA: CLN8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLN8

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CLN8

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CLN8 (NM_018941)
		Sino Biological Human cDNA Clone for CLN8
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN8

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CLN8
		Search LifeMap BioReagents cell lines for CLN8

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN8

1 GenomeRNAi human phenotype for CLN8:

Increased gamma-H2AX phosphory

Animal Models:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cln8):

behavior/neurological	mortality/aging	nervous system	pigmentation	reproductive system
vision/eye

CLN8 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synaptic Vesicle Pathway

Synaptic Vesicle Pathway

1.00

1 BioSystems Pathway for CLN8

Synaptic Vesicle Pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CLN8

Gene Ontology (GO): 5/33 biological process terms (GO ID links to tree view) (see all 33): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001306	age-dependent response to oxidative stress	IEA	--
GO:0006644	phospholipid metabolic process	IMP	16086686
GO:0006672	ceramide metabolic process	IMP	16086686
GO:0006869	lipid transport	NAS	12151215
GO:0007006	mitochondrial membrane organization	IEA	--

CLN8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CLN8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CLN8
1 Novoseek chemical compound relationship for CLN8 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipid	0	2	16086686 (1)

Search CenterWatch for drugs/clinical trials and news about CLN8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CLN8 gene (2 alternative transcripts):

NM_018941.3 NM_001034061.1

Unigene Cluster for CLN8:

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

Hs.127675 [show with all ESTs]

Unigene Representative Sequence: NM_018941

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000524258 ENST00000518780 ENST00000517514 ENST00000331222(uc003wpo.4)

ENST00000520991 ENST00000519254 ENST00000523237

miRNA Products:		OriGene 3'-UTR Clone: CLN8 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLN8
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN8:
		hsa-miR-515-5p hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-519e* hsa-miR-30e
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLN8 (see all 7) OriGene shRNA RFP: CLN8 OriGene siRNA: CLN8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLN8

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CLN8 (NM_018941)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLN8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CLN8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLN8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLN8

Additional cDNA sequence:

AF123757.1 AF123758.1 AF123759.1 AF123760.1 AF123761.1 AK096736.1 AK312486.1 BC007725.2

BC136825.1 BC141858.1 BT007049.1

12 DOTS entries:

DT.205178 DT.95371301 DT.101982007 DT.91752714 DT.95371299 DT.100728595 DT.100784162 DT.100784160

DT.100784163 DT.120638870 DT.120638879 DT.40280484

24/117 AceView cDNA sequences (see all 117):

BI518953 NM_018941 BE672230 BU623558 BT007049 BX342191 AI492192 CA420425

AA865078 AA807426 BE336652 AI791409 AA765593 AA732598 AI246377 BQ709003

AW002968 BX646622 AA306161 AW262794 AI733012 CA431503 CK724982 BX352161

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CLN8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTAAAATAT

About this image

CLN8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CLN8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CLN8

SOURCE GeneReport for Unigene cluster: Hs.127675

SABiosciences Custom PCR Arrays for CLN8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLN8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CLN8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLN8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLN8

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CLN8 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cln8^{1 , 5}	ceroid-lipofuscinosis, neuronal 8^{1, 5}	82.69(n)¹ 85.96(a)¹		8 (7.59 cM)⁵ 26889¹ NM_012000.3¹ NP_036130.1¹ 14881335⁵
chicken (Gallus gallus)	Aves	CLN8¹	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive more	63.13(n) 56.89(a)		421902 NM_001031087.1 NP_001026258.1
lizard (Anolis carolinensis)	Reptilia	CLN8⁶	--	60(a)	1 ↔ 1	1(158776294-158783162)
zebrafish (Danio rerio)	Actinopterygii	cln8¹	ceroid-lipofuscinosis, neuronal 8	65.64(n) 61.3(a)		100136870 NM_001114588.1 NP_001108060.1

ENSEMBL Gene Tree for CLN8 (if available)
TreeFam Gene Tree for CLN8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894060^1,2	C	pathogenic	1728482(+)	`ACTGCC/TGCATG`	2	R C	mis¹		0	--	--	--	--
rs28940569^1,2	C	pathogenic	1728661(+)	`GACTGG/CAACTT`	2	/C /W	mis¹ ese³		2		NA	4
rs113845689^1,2		--	1524592(+)	`CAGATC/AAGAGA`	1	--	us2k¹		1		CSA	2
rs116106279^1,2	F,	--	1709876(+)	`GAAATC/TGTATG`	1	--	us2k¹		1		WA	118
rs147045891^1,2		--	1709877(+)	`AAATCA/GTATGG`	1	--	us2k¹		0	--	--	--	--
rs6558533^1,2	C,F,H,	--	1709918(+)	`TGCTGG/AGTGCG`	1	--	us2k¹		30		NS EA NA WA CSA	2777
rs193195993^1,2		--	1709923(+)	`AGTGCA/GGGCCA`	1	--	us2k¹		0	--	--	--	--
rs6558534^1,2	C,F,H,	--	1709972(+)	`CAGCTG/AATTCA`	1	--	us2k¹		21		NS EA NA WA CSA	1061
rs138536451^1,2		--	1710023(+)	`AGGTTA/TTTCAA`	1	--	us2k¹		0	--	--	--	--
rs184205213^1,2		--	1710215(+)	`TTAGTC/TTGGCC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CLN8 (1703944 - 1734738 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CLN8
1 CNV: 53176
Human Gene Mutation Database (HGMD): CLN8

Locus Specific Mutation Databases (LSDB): CLN8

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLN8

DNA2.0 Custom Variant and Variant Library Synthesis for CLN8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CLN8 for disorders           About GeneDecksing

OMIM gene information: 607837
OMIM disorders: 600143  610003
UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8

Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]. A form of neuronal

ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative,

lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and

clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often

in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint

profiles

Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE)

[MIM:610003]. A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5

and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not

a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular

profiles on ultrastructural analysis

16 diseases for CLN8: About MalaCards

ceroid lipofuscinosis neuronal 8 neuronal ceroid-lipofuscinoses ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

neuronitis neuronal ceroid-lipofuscinosis lysosomal storage disease intellectual disability

batten disease neurodegenerative disease cerebral atrophy neurodegeneration

cerebritis dementia blindness cholesterol

3 diseases from the University of Copenhagen DISEASES database for CLN8:

Neuronal ceroid lipofuscinosis Intellectual disability Blindness

7 Novoseek disease relationships for CLN8 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuronal ceroid lipofuscinoses	96.7	3	19431184 (1), 10508524 (1), 15629147 (1)
northern epilepsy	95.6	4	15024724 (3), 15160397 (1)
lincl	94.8	9	19431184 (2), 15160397 (1), 11001811 (1), 17564970 (1)
neurodegenerative diseases	73.7	1	11073227 (1)
mental retardation	57.9	4	19431184 (1), 10508524 (1), 15160397 (1), 11001811 (1)
epilepsy	56	8	15826318 (3), 19431184 (1), 10508524 (1), 15160397 (1) (see all 5)
neurodegeneration	49.7	3	15826318 (1), 11073227 (1), 10508524 (1)

GeneTests: CLN8

Neuronal Ceroid-Lipofuscinoses

Human Genome Epidemiology (HuGE) Navigator: CLN8 (1 document)

Export disorders for CLN8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CLN8 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with CLN8)

Utopia: connect your pdf to the dynamic
world of online information

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (PubMed id 10508524)^{1, 2, 3, 9} Ranta S....Lehesjoki A.-E. (1999)
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (PubMed id 19431184)^{1, 2, 9} Vantaggiato C.... Bassi M.T. (2009)
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. (PubMed id 15024724)^{1, 2, 9} Ranta S....Lehesjoki A.-E. (2004)
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)^{1, 2, 9} Kousi M....Lehesjoki A.-E. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (PubMed id 10861296)^{1, 2} Lonka L.... Lehesjoki A.-E. (2000)
Northern epilepsy, a new member of the NCL family. (PubMed id 11073227)^{1, 9} Ranta S. and Lehesjoki A.E. (2000)
Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. (PubMed id 16086686)^{1, 9} Hermansson M....Lahtinen U. (2005)
Batten's disease: clues to neuronal protein catabolism in lysosomes. (PubMed id 10740217)^{1, 9} Dawson G. and Cho S. (2000)
Phenotypic heterogeneity in consanguineous patients wi th a common CLN8 mutation. (PubMed id 22964447)¹ Mahajnah M. and Zelnik N. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2055	HGNC: 2079	AceView: CLN8	Ensembl:ENSG00000182372	euGenes: HUgn2055
ECgene: CLN8	H-InvDB: CLN8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CLN8	Pharmacogenomics, SNPs, Pathways
NCL CLN8	http://www.ucl.ac.uk/ncl/cln8.shtml
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN8

Intellectual Property for CLN8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CLN8 gene:
Search GeneIP for patents involving CLN8

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for CLN8
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLN8		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLN8
	OriGene Protein Over-expression Lysate for CLN8		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for CLN8		OriGene 3'-UTR Clone for CLN8
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLN8
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CLN8		OriGene Custom Protein Services for CLN8
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CLN8
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLN8
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLN8
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLN8
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLN8
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLN8

	GenScript Custom Purified and Recombinant Proteins Services for CLN8		GenScript cDNA clones with any tag delivered in your preferred vector for CLN8
	GenScript Custom Assay Services for CLN8		GenScript Custom Superior Antibodies Services for CLN8
	GenScript Custom overexpressing Cell Line Services for CLN8		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CLN8 promoter
	Search Chromatin IP Primers for CLN8
	RT² qPCR Primer Assay in human, mouse, rat CLN8
	GNC Network for CLN8
	SABiosciences Custom PCR Arrays for CLN8

Search Tocris compounds for CLN8

	Browse Sino Biological Proteins and Antibodies
	cDNA Clones for CLN8
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	CLN8 antibodies
	CLN8 lysates

	Search for Antibodies for CLN8 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for CLN8
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

CLN8 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CLN8

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN8

	Browse SwitchGear 3'UTR luciferase reporter plasmids for CLN8
	SwitchGear Promoter luciferase reporter plasmids for CLN8

Search ThermoFisher Antibodies for CLN8

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN8

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CLN8 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

CLN8 Gene

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive...

Aliases
for CLN8 gene

Summaries
for CLN8 gene

Genomic Views
for CLN8 gene

Proteins
for CLN8 gene

Protein Domains /
Families
for CLN8 gene

Function
for CLN8 gene

Pathways & Interactions
for CLN8 gene

Drugs & Compounds
for CLN8 gene

Transcripts
for CLN8 gene

Expression
for CLN8 gene

Orthologs
for CLN8 gene

Paralogs
for CLN8 gene

Genomic Variants
for CLN8 gene

Disorders / Diseases
for CLN8 gene

Publications
for CLN8 gene

External Searches for CLN8 gene

Genome Databases showing CLN8 gene

Other Databases showing CLN8 gene

Specialized Databases showing CLN8 gene

Intellectual Property
for CLN8 gene

Products
for CLN8 gene

View Random Gene

Advanced Search

Export list of displayed genes

CLN8 Gene

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive...

Aliasesfor CLN8 gene

Summariesfor CLN8 gene

Genomic Viewsfor CLN8 gene

Proteinsfor CLN8 gene

Protein Domains /Familiesfor CLN8 gene

Functionfor CLN8 gene

Pathways & Interactionsfor CLN8 gene

Drugs & Compoundsfor CLN8 gene

Transcriptsfor CLN8 gene

Expression for CLN8 gene

Orthologsfor CLN8 gene

Paralogsfor CLN8 gene

Genomic Variantsfor CLN8 gene

Disorders / Diseasesfor CLN8 gene

Publicationsfor CLN8 gene

External Searches for CLN8 gene

Genome Databases showing CLN8 gene

Other Databases showing CLN8 gene

Specialized Databases showing CLN8 gene

Intellectual Propertyfor CLN8 gene

Productsfor CLN8 gene

View Random Gene

Aliases
for CLN8 gene

Summaries
for CLN8 gene

Genomic Views
for CLN8 gene

Proteins
for CLN8 gene

Protein Domains /
Families
for CLN8 gene

Function
for CLN8 gene

Pathways & Interactions
for CLN8 gene

Drugs & Compounds
for CLN8 gene

Transcripts
for CLN8 gene

Expression
for CLN8 gene

Orthologs
for CLN8 gene

Paralogs
for CLN8 gene

Genomic Variants
for CLN8 gene

Disorders / Diseases
for CLN8 gene

Publications
for CLN8 gene

Intellectual Property
for CLN8 gene

Products
for CLN8 gene