Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57338
Gene name Gene Name - the full gene name approved by the HGNC.
Junctophilin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JPH3
Synonyms (NCBI Gene) Gene synonyms aliases
CAGL237, HDL2, JP-3, JP3, TNRC22
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HDL2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 comp
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT623560 hsa-miR-455-3p HITS-CLIP 23824327
MIRT623559 hsa-miR-1910-5p HITS-CLIP 23824327
MIRT623558 hsa-miR-1470 HITS-CLIP 23824327
MIRT623557 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT623556 hsa-miR-6892-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0007612 Process Learning IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605268 14203 ENSG00000154118
Protein
UniProt ID Q8WXH2
Protein name Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein)
Protein function Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk betwee
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02493 MORN 15 37 MORN repeat Repeat
PF02493 MORN 39 60 MORN repeat Repeat
PF02493 MORN 61 80 MORN repeat Repeat
PF02493 MORN 83 104 MORN repeat Repeat
PF02493 MORN 107 129 MORN repeat Repeat
PF02493 MORN 130 152 MORN repeat Repeat
PF02493 MORN 288 310 MORN repeat Repeat
PF02493 MORN 311 333 MORN repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:10891348}.
Sequence
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGT
YQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLK
YEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI
Sequence length 748
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
17892325
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
17892325
Huntington disease-like HUNTINGTON DISEASE-LIKE 2 rs193922906, rs74315401, rs28933385, rs74315403, rs74315405, rs74315406, rs74315411, rs74315410, rs74315412, rs80356711
Parkinson disease Parkinsonian Disorders rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Ischemic Stroke Ischemic Stroke GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 24736723
Anemia Sickle Cell Associate 28436274
Angina Unstable Associate 26485305
Breast Neoplasms Associate 26970778
Carcinoma Hepatocellular Associate 35169860
Chorea Associate 33824468
Cognition Disorders Associate 33824468
Colorectal Neoplasms Associate 28656064
Coronary Artery Disease Associate 20307520
Dystonia Associate 33824468