help  | about  | cite  | software

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:
  • OTTHUMG00000140368,
  • HGNC:12605,
  • Usher syndrome 3A,
  • NM_001195794,
  • RP61,
  • USH3,
  • AF388366,
  • uc003eyk.1,
  • USH3,
  • USH3A,
  • CLRN1,
  • USH3A,
  • RP61
  • identifiers:
  • 7401,
  • ENSG00000163646,
  • CLRN1

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

33 SN Ps

4 Cross References

16 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results