JPH4, Official Symbol JPH4provided by HGNC Official Full Name junctophilin 4provided by HGNC Primary source HGNC:HGNC:20156 See related Ensembl:ENSG00000092051 MIM:619863; AllianceGenome:HGNC:20156 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JP4; JPHL1 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] Expression Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues See more Orthologs mouse all