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JPH3 junctophilin 3 [ Homo sapiens (human) ]

Gene ID: 57338, updated on 1-Aug-2020

Summary

Official Symbol
JPH3provided by HGNC
Official Full Name
junctophilin 3provided by HGNC
Primary source
HGNC:HGNC:14203
See related
Ensembl:ENSG00000154118 MIM:605268
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
JP3; HDL2; JP-3; TNRC22; CAGL237
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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
Expression
Biased expression in brain (RPKM 10.9), adrenal (RPKM 0.6) and 1 other tissue See more
Orthologs

Genomic context

See JPH3 in Genome Data Viewer
Location:
16q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (87601835..87698156)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87635441..87731762)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC-type containing 14 Neighboring gene uncharacterized LOC101928737 Neighboring gene nuclear receptor subfamily 3 group C member 1 pseudogene 1 Neighboring gene junctophilin 3 repeat instability region Neighboring gene Sharpr-MPRA regulatory region 988 Neighboring gene uncharacterized LOC100129215 Neighboring gene kelch domain containing 4 Neighboring gene uncharacterized LOC105371399 Neighboring gene uncharacterized LOC102724467 Neighboring gene microRNA 6775 Neighboring gene solute carrier family 7 member 5

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
Huntington disease-like 2
MedGen: C1847987 OMIM: 606438 GeneReviews: Huntington Disease-Like 2
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44707

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium ion transport into cytosol TAS
Traceable Author Statement
more info
PubMed 
exploration behavior IEA
Inferred from Electronic Annotation
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
locomotion IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
regulation of neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
junctophilin-3
Names
junctophilin type 3
trinucleotide repeat containing 22

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_009797.1 RefSeqGene

    Range
    4616..100264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271604.3NP_001258533.1  junctophilin-3 isoform 2

    See identical proteins and their annotated locations for NP_001258533.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (2) with a distinct C-terminus containing a 13 aa polyalanine stretch compared to isoform 1. This variant is described in PMID:11694876.
    Source sequence(s)
    AB593088, AC092720, BC008690
    UniProtKB/TrEMBL
    F8W9A3, Q96HD8
    Conserved Domains (1) summary
    pfam02493
    Location:107128
    MORN; MORN repeat
  2. NM_001271605.2NP_001258534.1  junctophilin-3 isoform 3

    See identical proteins and their annotated locations for NP_001258534.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (3) with a distinct C-terminus compared to isoform 1. This variant is described in PMID:11694876.
    Source sequence(s)
    AB593088, AC092720, BC008690
    UniProtKB/TrEMBL
    F8W9A3, Q96HD8
    Conserved Domains (1) summary
    cl27415
    Location:5132
    COG4642; Uncharacterized conserved protein [Function unknown]
  3. NM_020655.4NP_065706.2  junctophilin-3 isoform 1

    See identical proteins and their annotated locations for NP_065706.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB593088, AC092720, AK295518, AW954561, BC036533, BQ014355
    Consensus CDS
    CCDS10962.1
    UniProtKB/Swiss-Prot
    Q8WXH2
    UniProtKB/TrEMBL
    B4DIC1, F8W9A3
    Related
    ENSP00000284262.2, ENST00000284262.3
    Conserved Domains (1) summary
    pfam02493
    Location:311333
    MORN; MORN repeat

RNA

  1. NR_073379.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and is alternately spliced at the 3' end compared to variant 1. The latter renders this variant a candidate for nonsense-mediated mRNA decay (NMD), hence it is represented as non-coding.
    Source sequence(s)
    AA813196, AK295518, BC036533, BG205692, BQ014355
    Related
    ENST00000537256.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    87601835..87698156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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