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Gene : JPH3 Homo sapiens

Name  ? junctophilin 3 Cytological Location  16q24.2
Brief Description  junctophilin 3
Description  Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
  • synonyms:
  • TNRC22,
  • HGNC:14203,
  • NM_001271604,
  • trinucleotide repeat containing 22,
  • JP3,
  • OTTHUMG00000137656,
  • AB042636,
  • JP-3,
  • HDL2,
  • JP3,
  • uc002fkd.5,
  • HDL2,
  • TNRC22,
  • CAGL237,
  • JP-3,
  • CAGL237,
  • JPH3
  • identifiers:
  • 57338,
  • ENSG00000154118,
  • JPH3

Genome feature

Region: gene ? Length: 96322  
Location: 16:87601835-87698156 Cyto location: 16q24.2


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Function

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0 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

0 Pathways

105 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results