Tissue expression of JPH3 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	JPH3
Gene description	Junctophilin 3
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (cerebral cortex)
GTEx:	Tissue enhanced (cerebellum, cerebral cortex, hippocampus)
FANTOM5:	Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum, cerebral cortex, hippocampus)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

GENE INFORMATION
Gene name	JPH3 (HGNC Symbol)
Synonyms	CAGL237, HDL2, JP-3, JP3, TNRC22
Description	Junctophilin 3 (HGNC Symbol)
Entrez gene 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 expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
Chromosome	16
Cytoband	q24.2
Chromosome location (bp)	87601835 - 87698156
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000154118 (version 83.38)
Entrez gene	57338
UniProt	Q8WXH2 (UniProt - Evidence at transcript level)
neXtProt	NX_Q8WXH2
Antibodypedia	JPH3 antibodies

PROTEIN BROWSER

JPH3-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
JPH3-001 ENSP00000284262 ENST00000284262	Q8WXH2 [Direct mapping] Junctophilin-3 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005886 [plasma membrane] GO:0007612 [learning] GO:0007613 [memory] GO:0014701 [junctional sarcoplasmic reticulum membrane] GO:0015278 [calcium-release channel activity] GO:0016021 [integral component of membrane] GO:0030314 [junctional membrane complex] GO:0035640 [exploration behavior] GO:0040011 [locomotion] GO:0048168 [regulation of neuronal synaptic plasticity] GO:0050885 [neuromuscular process controlling balance] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0060402 [calcium ion transport into cytosol] GO:0070588 [calcium ion transmembrane transport] Show all	748 aa 81.5 kDa	No	1