JPH4 - junctophilin 4 Gene

Homo sapiens

Also known as JP4; JPHL1

Gene ID: 84502 | Gene type: protein coding

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

JPH4 Protein Structure

MORN

0
100
200
300
400
500
628 a.a.

Protein Preferred Names

Protein Names

junctophilin-4

JP-4

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07048	JPH4 Human Pre-designed siRNA Set A		/	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