JPH4 - junctophilin 4 Gene

Also Known as JP4; JPHL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84502

About JPH4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,568,038-23,578,790 (from NCBI)

This gene has 4 transcripts (splice variants), 106 orthologues and 3 paralogues. Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues.

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]

JPH4 Products (2)

mRNA Protein Name
NM_001146028.2 NP_001139500.1 junctophilin-4
NM_032452.3 NP_115828.2 junctophilin-4

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JPH4 Protein Structure

MORN

MORN: MORN repeat (15 - 33)

MORN

MORN: MORN repeat (39 - 59)

MORN

MORN: MORN repeat (61 - 77)

MORN

MORN: MORN repeat (83 - 104)

MORN

MORN: MORN repeat (106 - 128)

MORN

MORN: MORN repeat (129 - 146)

MORN

MORN: MORN repeat (282 - 304)

MORN

MORN: MORN repeat (305 - 327)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 628 a.a.
Protein Preferred Names Protein Names

junctophilin-4

  • JP-4

JPH4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JPH4 Q96JJ6 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
Intra
JPH4 Q96JJ6 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Huntington Disease-Like 2

  • HDL2

  • Huntington'S Disease-Like 2

  • Huntington Disease-Like, Type 2
Stormorken Syndrome

  • Thrombocytopathy, Asplenia, And Miosis

  • Stormorken-Sjaastad-Langslet Syndrome

  • STRMK

  • York Platelet Syndrome

  • Yps

  • Thrombocytopathy, Asplenia And Miosis

  • Thrombocytopathy Asplenia Miosis

  • Thrombocytopathy-Asplenia-Miosis Syndrome

  • Miosis Disorder
Malignant Hyperthermia

  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever
Alzheimer Disease, Familial, 1

  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07048 JPH4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta JPH4 VGNC VGNC:84363
Mus musculus JPH4 MGD MGI:2443113
Felis catus JPH4 VGNC VGNC:63013
Rattus norvegicus JPH4 RGD RGD:1303170
Bos taurus JPH4 VGNC VGNC:30383
Others JPH4 NCBI