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Gene : JPH1 Homo sapiens

Name  ? junctophilin 1 Cytological Location  8q21.11
Brief Description  junctophilin 1
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. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CMT2K,
  • uc003yae.4,
  • HGNC:14201,
  • NM_001317830,
  • JP-1,
  • JP-1,
  • JP1,
  • AB042634,
  • JPH1,
  • OTTHUMG00000164524
  • identifiers:
  • 56704,
  • ENSG00000104369,
  • JPH1

Genome feature

Region: gene ? Length: 86841  
Location: 8:74234700-74321540 reverse strand Cyto location: 8q21.11


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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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Gene --> Orthologues

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

3756 SN Ps

5 Cross References

18 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results