Homo sapiens Gene: JPH4
Summary
InnateDB Gene IDBG-3382.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JPH4
Gene Name junctophilin 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000092051
Encoded Proteins
junctophilin 4
junctophilin 4
junctophilin 4
junctophilin 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:23568035-23578800
Strand Reverse strand
Band q11.2
Transcripts
ENST00000356300 ENSP00000348648
ENST00000397118 ENSP00000380307
ENST00000544177 ENSP00000439562
ENST00000553505
ENST00000622501 ENSP00000480477
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007612 learning
GO:0048167 regulation of synaptic plasticity
GO:0050885 neuromuscular process controlling balance
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402 calcium ion transport into cytosol
Cellular Component
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0043198 dendritic shaft
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001146028 NM_032452
HUGO
OMIM
CCDS CCDS9603
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas