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JPH2 junctophilin 2 [ Homo sapiens (human) ]

Gene ID: 57158, updated on 30-Aug-2020

Summary

Official Symbol
JPH2provided by HGNC
Official Full Name
junctophilin 2provided by HGNC
Primary source
HGNC:HGNC:14202
See related
Ensembl:ENSG00000149596 MIM:605267
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; 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

Genomic context

See JPH2 in Genome Data Viewer
Location:
20q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (44106590..44187946, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42740337..42816218, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene TOX high mobility group box family member 2 Neighboring gene RNA, 7SL, cytoplasmic 443, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7745 Neighboring gene JPH2 intron CAGE-defined T cell enhancer Neighboring gene OSER1 divergent transcript Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene ganglioside induced differentiation associated protein 1 like 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Familial hypertrophic cardiomyopathy 17
MedGen: C3151264 OMIM: 613873 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ40969

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
junctophilin-2
Names
junctophilin type 2

NCBI Reference Sequences (RefSeq)

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

  1. NG_031867.1 RefSeqGene

    Range
    5001..80882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_394

mRNA and Protein(s)

  1. NM_020433.5NP_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
    Q9BR39
    UniProtKB/TrEMBL
    Q86VZ3
    Related
    ENSP00000362071.3, ENST00000372980.3
    Conserved Domains (1) summary
    pfam02493
    Location:106128
    MORN; MORN repeat
  2. NM_175913.4NP_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
    cl27415
    Location:4127
    COG4642; Uncharacterized conserved protein [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    44106590..44187946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723833.4XP_006723896.1  junctophilin-2 isoform X1

    Conserved Domains (1) summary
    PLN03185
    Location:4133
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
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