JPH4

Junctophilin 4 is a protein in humans that is encoded by the JPH4 gene. ^[5]

AliasesJPH4, JP4, JPHL1, junctophilin 4

External IDsMGI: 2443113; HomoloGene: 13034; GeneCards: JPH4; OMA:JPH4 - orthologs

Chr.Chromosome 14 (human)^[1]

End23,578,790 bp^[1]

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JPH4
Identifiers
Aliases	JPH4, JP4, JPHL1, junctophilin 4
External IDs	MGI: 2443113; HomoloGene: 13034; GeneCards: JPH4; OMA:JPH4 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q11.2 Start 23,568,038 bp[1] End 23,578,790 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 C3 Start 55,344,283 bp[2] End 55,354,392 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus right hemisphere of cerebellum right frontal lobe nucleus accumbens dorsolateral prefrontal cortex temporal lobe amygdala primary visual cortex anterior cingulate cortex prefrontal cortex Top expressed in dentate gyrus of hippocampal formation granule cell superior frontal gyrus visual cortex primary visual cortex olfactory tubercle hippocampus proper nucleus accumbens Region I of hippocampus proper piriform cortex subiculum More reference expression data BioGPS n/a
Gene ontology Molecular function calcium-release channel activity Cellular component dendritic shaft integral component of membrane plasma membrane endoplasmic reticulum endoplasmic reticulum membrane membrane junctional sarcoplasmic reticulum membrane smooth endoplasmic reticulum junctional membrane complex Biological process regulation of ryanodine-sensitive calcium-release channel activity calcium ion transport into cytosol learning neuromuscular process controlling balance regulation of synaptic plasticity regulation of cytokine production regulation of store-operated calcium entry release of sequestered calcium ion into cytosol Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84502 319984 Ensembl ENSG00000092051 ENSMUSG00000022208 UniProt Q96JJ6 Q80WT0 RefSeq (mRNA) NM_032452 NM_001146028 NM_001003829 NM_177049 RefSeq (protein) NP_001139500 NP_115828 NP_796023 Location (UCSC) Chr 14: 23.57 – 23.58 Mb Chr 14: 55.34 – 55.35 Mb PubMed search [3] [4]
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This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009].