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JPH2 junctophilin 2 [ Homo sapiens (human) ]

Gene ID: 57158, updated on 15-Nov-2014
Official Symbol
JPH2provided by HGNC
Official Full Name
junctophilin 2provided by HGNC
Primary source
HGNC:HGNC:14202
See related
Ensembl:ENSG00000149596; HPRD:12006; MIM:605267; Vega:OTTHUMG00000033037
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]
See JPH2 in Epigenomics, MapViewer
Location:
20q13.12
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (44111697..44187578, 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 uncharacterized LOC101927200 Neighboring gene TOX high mobility group box family member 2 Neighboring gene OSER1 antisense RNA 1 (head to head) Neighboring gene oxidative stress responsive serine-rich 1 Neighboring gene ganglioside induced differentiation associated protein 1-like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • FLJ40969

Gene Ontology Provided by GOA

Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
junctional membrane complex IEA
Inferred from Electronic Annotation
more info
 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
junctophilin-2
Names
junctophilin-2
junctophilin type 2

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 

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

mRNA and Protein(s)

  1. NM_020433.4NP_065166.2  junctophilin-2 isoform 1

    See proteins identical to NP_065166.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer variant and encodes the longer isoform (1).
    Source sequence(s)
    AL034419, AL035447, AW014086, BC029957, BC043206
    Consensus CDS
    CCDS13325.1
    UniProtKB/TrEMBL
    Q86VZ3
    UniProtKB/Swiss-Prot
    Q9BR39
    Related
    ENSP00000362071, OTTHUMP00000031651, ENST00000372980, OTTHUMT00000080307
    Conserved Domains (2) summary
    pfam02493
    Location:314336
    MORN; MORN repeat
    cl14787
    Location:38146
    MORN; MORN repeat
  2. NM_175913.3NP_787109.2  junctophilin-2 isoform 2

    See proteins identical to 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
    Conserved Domains (1) summary
    PLN03185
    Location:4127
    PLN03185; phosphatidylinositol phosphate kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    39477014..39552742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    44111697..44187578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723832.1XP_006723895.1  

    See proteins identical to XP_006723895.1

    UniProtKB/Swiss-Prot
    Q9BR39
    Conserved Domains (2) summary
    pfam02493
    Location:314336
    MORN; MORN repeat
    cl14787
    Location:38146
    MORN; MORN repeat
  2. XM_006723833.1XP_006723896.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    42643539..42718371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)