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Gene : CLRN1 Homo sapiens

Name  ? clarin 1 Cytological Location  3q25.1
Brief Description  clarin 1
Description  This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc003eyk.1,
  • USH3A,
  • USH3A,
  • OTTHUMG00000140368,
  • RP61,
  • Usher syndrome 3A,
  • USH3,
  • CLRN1,
  • AF388366,
  • USH3,
  • RP61,
  • HGNC:12605,
  • NM_001195794
  • identifiers:
  • 7401,
  • ENSG00000163646,
  • CLRN1

Genome feature

Region: gene ? Length: 46837  
Location: 3:150926163-150972999 reverse strand Cyto location: 3q25.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


3 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

33 SNPs

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results