JPH2 junctophilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JPH2provided by HGNC
Official Full Name: junctophilin 2provided by HGNC
Primary source: HGNC:HGNC:14202
See related: Ensembl:ENSG00000149596 MIM:605267; AllianceGenome:HGNC:14202
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: JP2; JP-2; CMD2E; CMH17
Summary: 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 component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 14.9), prostate (RPKM 9.1) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (44106590..44187188, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (45841151..45921818, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (42735230..42815828, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes.
Title: Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes.
One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.
Title: One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.
Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.
Title: Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.
Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
Title: Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation.
Title: Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation.
Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics.
Title: Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics.
Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
Title: Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Title: Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
Title: Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
The palmitoylatable Cys residues in JPH2 are conserved in other JPHs, suggesting that palmitoylation may also enhance ER/SR-PM tethering by these proteins.
Title: S-Palmitoylation of junctophilin-2 is critical for its role in tethering the sarcoplasmic reticulum to the plasma membrane.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cardiomyopathy, dilated, 2E MedGen: C5561970 OMIM: 619492 GeneReviews: Not available	Compare labs
Hypertrophic cardiomyopathy 17 MedGen: C3151264 OMIM: 613873 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-5-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transport into cytosol	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in regulation of ryanodine-sensitive calcium-release channel activity	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IBA Inferred from Biological aspect of Ancestor more info
located_in junctional sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: junctophilin-2

Names: junctophilin type 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031867.1 RefSeqGene

Range

5001..80882

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_394

mRNA and Protein(s)

NM_020433.5 → NP_065166.2 junctophilin-2 isoform 1

See identical proteins and their annotated locations for NP_065166.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL034419, AL035447, AW014086, BC029957, BC043206

Consensus CDS

CCDS13325.1

UniProtKB/Swiss-Prot

E1P5X1, O95913, Q5JY74, Q9BR39, Q9UJN4

Related

ENSP00000362071.3, ENST00000372980.4

Conserved Domains (1) summary

pfam02493
Location:106 → 128

MORN; MORN repeat
NM_175913.4 → NP_787109.2 junctophilin-2 isoform 2

See identical proteins and their annotated locations for NP_787109.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AL035447, AL132999

Consensus CDS

CCDS13326.1

UniProtKB/Swiss-Prot

Q9BR39

Related

ENSP00000344590.3, ENST00000342272.3

Conserved Domains (1) summary

PLN03185
Location:4 → 127

PLN03185; phosphatidylinositol phosphate kinase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

44106590..44187188 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723833.5 → XP_006723896.1 junctophilin-2 isoform X1

Conserved Domains (1) summary

PLN03185
Location:4 → 133

PLN03185; phosphatidylinositol phosphate kinase; Provisional