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Gene : CLN3 Homo sapiens

Name  ? CLN3 lysosomal/endosomal transmembrane protein, battenin Cytological Location  16p12.1
Brief Description  CLN3 lysosomal/endosomal transmembrane protein, battenin
Description  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]
  • synonyms:
  • ceroid-lipofuscinosis, neuronal 3,
  • U32680,
  • BTN1,
  • uc002dpo.4,
  • HGNC:2074,
  • CLN3, battenin,
  • CLN3,
  • juvenile neuronal ceroid lipofuscinosis,
  • JNCL,
  • OTTHUMG00000097024,
  • BTS,
  • Batten, Spielmeyer-Vogt disease,
  • BTS,
  • NM_000086,
  • JNCL,
  • BTN1
  • identifiers:
  • 1201,
  • ENSG00000188603,
  • CLN3

Genome feature

Region: gene ? Length: 25430  
Location: 16:28466653-28492082 reverse strand Cyto location: 16p12.1


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Function

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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

3753 SN Ps

6 Cross References

20 Data Sets

9 Homologues

0 Located Features

140 Rna Seq Results