Aliases for CLN3 Gene
Aliases for CLN3 Gene
External Ids for CLN3 Gene
- HGNC: 2074
- Entrez Gene: 1201
- Ensembl: ENSG00000188603
- OMIM: 607042
- UniProtKB: Q13286
Previous HGNC Symbols for CLN3 Gene
- BTS
Previous GeneCards Identifiers for CLN3 Gene
- GC16P028406
- GC16P028790
- GC16P028559
- GC16P028601
- GC16M028396
- GC16M028488
- GC16M026514
Summaries for CLN3 Gene
-
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CLN3 Gene
CLN3 (CLN3, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid-Lipofuscinoses. Among its related pathways are Lysosome. GO annotations related to this gene include unfolded protein binding. An important paralog of this gene is ENSG00000261832.
UniProtKB/Swiss-Prot for CLN3 Gene
-
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLN3 Gene
Genomics for CLN3 Gene
Regulatory Elements for CLN3 Gene
Enhancers for CLN3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CLN3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CLN3 gene promoter:
Regulatory Element Products
Genomic Location for CLN3 Gene
- Chromosome:
- 16
- Start:
- 28,466,653 bp from pter
- End:
- 28,495,575 bp from pter
- Size:
- 28,923 bases
- Orientation:
- Minus strand
Genomic View for CLN3 Gene
Genes around CLN3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p12.1 by Ensembl
- 16p12.1 by Entrez Gene
- 16p12.1 by HGNC
CLN3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CLN3 Gene
Proteins for CLN3 Gene
-
Protein details for CLN3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13286-CLN3_HUMAN
- Recommended name:
- Battenin
- Protein Accession:
- Q13286
- B2R7J1
- B4DXL3
- O00668
- O95089
- Q549S9
- Q9UP09
- Q9UP11
- Q9UP12
- Q9UP13
- Q9UP14
Protein attributes for CLN3 Gene
- Size:
- 438 amino acids
- Molecular mass:
- 47623 Da
- Quaternary structure:
-
- Interacts with DCTN1, KIF3A, RAB7A and RILP (PubMed:22261744). Interacts with CLN5 (PubMed:19941651).
Protein Expression for CLN3 Gene
Post-translational modifications for CLN3 Gene
- Farnesylation is important for trafficking to lysosomes.
- Highly glycosylated.
- Ubiquitination at Lys262
- Glycosylation at posLast=7171, posLast=8080, posLast=8585, and Asn310
- Modification sites at PhosphoSitePlus
Other Protein References for CLN3 Gene
- ENSEMBL proteins:
-
- ENSP00000329171
- ENSP00000347660
- ENSP00000350457
- ENSP00000350523
- ENSP00000353116
- ENSP00000379014
- ENSP00000454229
- ENSP00000454466
- ENSP00000454680
- ENSP00000454899
- ENSP00000455342
- ENSP00000455365
- ENSP00000455387
- ENSP00000455549
- ENSP00000455603
- ENSP00000456013
- ENSP00000456117
- ENSP00000456122
- ENSP00000456414
- ENSP00000456693
- ENSP00000457615
- ENSP00000458015
- ENSP00000486178
- ENSP00000486616
- ENSP00000489627
- ENSP00000489952
- ENSP00000490034
- ENSP00000490049
- ENSP00000490105
- ENSP00000490155
- ENSP00000490206
- ENSP00000490248
- ENSP00000490363
- ENSP00000490394
- ENSP00000490505
- ENSP00000490670
- ENSP00000490932
- ENSP00000353073
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CLN3
-
Abcam antibodies for CLN3
- Invitrogen Antibodies for CLN3
- antibodies-online Antibodies for CLN3: See all 35
- GeneTex CLN3 antibody for CLN3
-
Santa Cruz Biotechnology (SCBT) Antibodies for CLN3
Protein Products
-
OriGene Purified Proteins for CLN3
- Search Origene for MassSpec and Protein Over-expression Lysates for CLN3
- Origene Custom Protein Services for CLN3
- antibodies-online Proteins for CLN3: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CLN3
-
Abcam proteins for CLN3
Assay Products
- antibodies-online Kits for CLN3: See all 1
No data available for DME Specific Peptides for CLN3 Gene
Domains & Families for CLN3 Gene
Protein Domains for CLN3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CLN3 Gene
Graphical View of Domain Structure for InterPro Entry
Q13286- Family:
-
- Belongs to the battenin family.
No data available for Gene Families for CLN3 Gene
Function for CLN3 Gene
Molecular function for CLN3 Gene
- GENATLAS Biochemistry:
- integral lysosomal membrane protein battenin,highly conserved,with alternatively spliced forms,expressed in astrocytes,capillary endothelium and neurons of gray matter of the brain in peripheral nerve,pancreatic islet cells and within the seminiferous tubules of the testis,involved in synaptic trafficking through the endoplasmic reticulum and Golgi,potentially protecting neurons from apoptosis mediated by ceramide,yeast BTN1 ortholog
- UniProtKB/Swiss-Prot Function:
- Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12134079 |
| GO:0051082 | unfolded protein binding | TAS | 8980123 |
Phenotypes for CLN3 Gene
- MGI mutant phenotypes for CLN3:
-
inferred from 5 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- reproductive system phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for CLN3:
Animal Models for CLN3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CLN3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CLN3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CLN3 gene
- Search ViGene Biosciences for CLN3
CRISPR Products
-
OriGene CRISPR knockouts for CLN3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLN3
- GenScript: Design CRISPR guide RNA sequences for CLN3
miRNA for CLN3 Gene
- miRTarBase miRNAs that target CLN3
miRNA Products
- Search ViGene Biosciences for CLN3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CLN3
- Browse OriGene Inhibitory RNA Products For CLN3
-
ViGene Biosciences ready-to-package AAV shRNAs for CLN3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CLN3
- VectorBuilder custom plasmid, inducible vectors for CLN3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CLN3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CLN3
-
ViGene Biosciences adenoviral particle packaged cDNA for CLN3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CLN3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CLN3 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLN3 Gene
Localization for CLN3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CLN3 Gene
- Lysosome membrane; Multi-pass membrane protein. Late endosome. Lysosome.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IDA | 9949212 |
| GO:0005634 | nucleus | IDA | 10191116 |
| GO:0005737 | cytoplasm | IDA | 10191116 |
| GO:0005739 | mitochondrion | TAS | 8980123 |
| GO:0005764 | lysosome | IEA,IDA | 10924275 |
Pathways & Interactions for CLN3 Gene
Pathways by source for CLN3 Gene
1 KEGG pathway for CLN3 Gene
Interacting Proteins for CLN3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001508 | action potential | ISS | -- |
| GO:0001575 | globoside metabolic process | IMP | 15240864 |
| GO:0006520 | cellular amino acid metabolic process | ISS | -- |
| GO:0006672 | ceramide metabolic process | IDA | 15240864 |
| GO:0006678 | glucosylceramide metabolic process | IMP | 15240864 |
No data available for SIGNOR curated interactions for CLN3 Gene
Transcripts for CLN3 Gene
mRNA/cDNA for CLN3 Gene
- (6) REFSEQ mRNAs :
- (35) Additional mRNA sequences :
- (260) Selected AceView cDNA sequences:
- (64) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CLN3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CLN3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLN3
- GenScript: Design CRISPR guide RNA sequences for CLN3
miRNA Products
- Search ViGene Biosciences for CLN3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CLN3
- Browse OriGene Inhibitory RNA Products For CLN3
-
ViGene Biosciences ready-to-package AAV shRNAs for CLN3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CLN3
- VectorBuilder custom plasmid, inducible vectors for CLN3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CLN3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | · | 4f | · | 4g | · | 4h | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP23: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP24: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP25: | - |
| ExUns: | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19a | · | 19b | · | 19c | · | 19d | · | 19e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||
| SP16: | - | ||||||||||||||||||||||||||
| SP17: | - | ||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||
| SP23: | |||||||||||||||||||||||||||
| SP24: | |||||||||||||||||||||||||||
| SP25: |
Expression for CLN3 Gene
mRNA differential expression in normal tissues according to GTEx for CLN3 Gene
This gene is overexpressed in Whole Blood (x7.3) and Colon - Transverse (x4.0).
This gene is overexpressed in Adrenal (49.5), Amniocyte (10.3), and Urine (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLN3 Gene
NURSA nuclear receptor signaling pathways regulating expression of CLN3 Gene:
CLN3SOURCE GeneReport for Unigene cluster for CLN3 Gene:
Hs.534667Evidence on tissue expression from TISSUES for CLN3 Gene
- Nervous system(4.9)
- Lung(4.5)
- Intestine(3)
- Kidney(2.8)
- Blood(2.2)
- Liver(2.2)
- Muscle(2.2)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CLN3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
General:
- blood
- peripheral nerve
- peripheral nervous system
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for CLN3
-
OriGene qPCR primer pairs for CLN3
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CLN3 Gene
Orthologs for CLN3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | -- 35 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | -- 35 |
|
OneToMany | |
| CLN3 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | CLN3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cln3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cln3 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cln3 34 |
|
||
| Str.15897 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15291 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cln3 34 35 |
|
||
| Dr.3167 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | cln3 34 35 |
|
||
| CG5582 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003934 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | cln-3.2 36 34 35 |
|
||
| cln-3.1 36 35 |
|
||||
| cln-3.3 36 35 |
|
||||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AEL171C 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YHC3 34 35 37 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F01551g 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08408 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | btn1 34 |
|
- Species where no ortholog for CLN3 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CLN3 Gene
Paralogs for CLN3 Gene
Variants for CLN3 Gene
| SNP ID | Clin | Chr 16 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121434286 | Pathogenic, Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] | 28,482,500(-) | TTGCC(A/G/T)AGTAT | reference, missense | |
| rs386833694 | Likely pathogenic, Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] | 28,482,161(-) | CCTCC(C/T)GCTCT | reference, missense | |
| rs386833695 | Likely pathogenic, Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] | 28,482,160(-) | CTCCC(A/G)CTCTT | reference, missense | |
| rs386833714 | Likely pathogenic, Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] | 28,487,734(-) | TGTGC(C/T)CCTGG | intron-variant, reference, missense | |
| rs386833719 | Likely pathogenic, Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] | 28,487,516(-) | GGATT(C/T)GTGCT | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2673092 | CNV | deletion | 23128226 |
| esv2758640 | CNV | gain+loss | 17122850 |
| esv3553297 | CNV | deletion | 23714750 |
| esv3638335 | CNV | loss | 21293372 |
| nsv103376 | CNV | deletion | 16902084 |
| nsv1059555 | CNV | gain | 25217958 |
| nsv1127482 | CNV | deletion | 24896259 |
| nsv1151158 | CNV | duplication | 26484159 |
| nsv509608 | CNV | insertion | 20534489 |
| nsv511572 | CNV | loss | 21212237 |
| nsv833180 | CNV | loss | 17160897 |
| nsv9415 | CNV | gain | 18304495 |
| nsv974791 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.77;
83.29% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CLN3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLN3 Gene
Disorders for CLN3 Gene
(18) MalaCards diseases for CLN3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ceroid lipofuscinosis, neuronal, 3 |
|
|
| neuronal ceroid-lipofuscinoses |
|
|
| neuronal ceroid lipofuscinosis |
|
|
| lysosomal storage disease |
|
|
| secondary corneal edema |
|
|
Search CLN3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CLN3_HUMAN- Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: A form of neuronal ceroid lipofuscinosis. 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. {ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:22261744, ECO:0000269 PubMed:9311735, ECO:0000269 PubMed:9490299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for CLN3 Gene
ceroid-lipofuscinosis,neuronal 3,juvenile,Batten (Spielmeyer-Vogt-Sjogren) disease,progressive neurodegenerative disease with an onset between 5 and 10 years,characterized by retinitis pigmentosa and a rapid loss of vision with macular and peripheral retinal degeneration,cognitive and motor dysfunction,seizures in childhood,a fatal outcome within a decade,and a characteristic fingerprint profile inclusions in different cells,including the variant form with granular osmiophilic deposits (GROD)
Relevant External Links for CLN3
Publications for CLN3 Gene
- CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. (PMID: 18317235) Rusyn E. … Boustany R.M. (Pediatr. Res. 2008) 2 3 22 64
- C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes. (PMID: 17286803) Storch S. … Braulke T. (Traffic 2007) 3 4 22 64
- Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro. (PMID: 10191115) Golabek A.A. … Wisniewski K.E. (Mol. Genet. Metab. 1999) 3 4 22 64
- Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (PMID: 9490299) Zhong N. … Brown W.T. (Hum. Genet. 1998) 3 4 22 64
- Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. (PMID: 9119403) Mitchison H.M. … Mole S.E. (Genomics 1997) 3 4 22 64
Products for CLN3 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CLN3
- Search Origene for MassSpec and Protein Over-expression Lysates for CLN3
- Origene Custom Protein Services for CLN3
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CLN3
- Browse OriGene Inhibitory RNA Products For CLN3
- OriGene qPCR primer pairs and template standards for CLN3
- OriGene qPCR primer pairs for CLN3
- OriGene CRISPR knockouts for CLN3
- OriGene ORF clones in human for CLN3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CLN3
- GenScript: Next-day shipping cDNA ORF clone for CLN3 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CLN3
- GenScript Custom Assay Services for CLN3
- GenScript Custom overexpressing Cell Line Services for CLN3
- GenScript: Design CRISPR guide RNA sequences for CLN3
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for CLN3
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CLN3
- Novus Biologicals proteins and lysates for CLN3
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for CLN3
- Abcam proteins for CLN3
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Invitrogen Antibodies for CLN3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CLN3
- antibodies-online Antibodies for CLN3: See all 35
- antibodies-online Kits for CLN3: See all 1
- antibodies-online Proteins for CLN3: See all 3
- Search antibodies-online for peptides
- GeneTex CLN3 antibody for CLN3
- Search GeneTex for Proteins for CLN3
- ViGene Biosciences adenoviral particle packaged cDNA for CLN3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CLN3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CLN3 gene
- Search ViGene Biosciences for CLN3
- Santa Cruz Biotechnology (SCBT) Antibodies for CLN3
- Search Santa Cruz Biotechnology (SCBT) for CLN3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CLN3
- Horizon Cell Lines for CLN3
- Cyagen custom Knockout/knockin (KOKI) mouse models for CLN3
- VectorBuilder custom plasmid, inducible vectors for CLN3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CLN3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CLN3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer