Jph2 MGI Mouse Gene Detail - MGI:1891496

Symbol

Jph2
Name

junctophilin 2
Synonyms

1110002E14Rik, JP-2

Feature Type

protein coding gene
IDs

MGI:1891496
NCBI Gene: 59091
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:163178162-163239913 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 84.22 cM, cytoband H3
Mapping Data

2 experiments

SNPs within 2kb

1995 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1891496	protein coding gene	Chr2:163178162-163239969 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026820	protein coding gene	Chr2:168671360-168735689 (-)
A/J	MGP_AJ_G0026786	protein coding gene	Chr2:161880817-161943947 (-)
AKR/J	MGP_AKRJ_G0026757	protein coding gene	Chr2:166663914-166732068 (-)
BALB/cJ	MGP_BALBcJ_G0026795	protein coding gene	Chr2:162207734-162270186 (-)
C3H/HeJ	MGP_C3HHeJ_G0026537	protein coding gene	Chr2:167006219-167075454 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027243	protein coding gene	Chr2:173604220-173667370 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024613	protein coding gene	Chr2:155169346-155236153 (-)
CAST/EiJ	MGP_CASTEiJ_G0025998	protein coding gene	Chr2:167394630-167459232 (-)
CBA/J	MGP_CBAJ_G0026514	protein coding gene	Chr2:179890233-179956133 (-)
DBA/2J	MGP_DBA2J_G0026652	protein coding gene	Chr2:161048142-161109713 (-)
FVB/NJ	MGP_FVBNJ_G0026618	protein coding gene	Chr2:159422541-159484810 (-)
LP/J	MGP_LPJ_G0026755	protein coding gene	Chr2:168806921-168873938 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026640	protein coding gene	Chr2:183545785-183611711 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027299	protein coding gene	Chr2:166550833-166617098 (-)
PWK/PhJ	MGP_PWKPhJ_G0025732	protein coding gene	Chr2:160603126-160667472 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025535	protein coding gene	Chr2:165425968-165494481 (-)
WSB/EiJ	MGP_WSBEiJ_G0026068	protein coding gene	Chr2:167410882-167473000 (-)

Human Ortholog

JPH2, junctophilin 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

JPH2, junctophilin 2
Synonyms

CMD2E, CMH17, JP-2, JP2
Links

HGNC:14202

NCBI Gene ID: 57158

neXtProt AC: NX_Q9BR39

UniProt: Q9BR39
Chr Location

20q13.12; chr20:44106590-44187188 (-) GRCh38

MGI Vertebrate Homology

Jph2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: JPH2
Protein SuperFamily

Junctophilin
Gene Tree

Jph2

Diseases

2 with human JPH2 associations

				Human Disease	Mouse Models
				dilated cardiomyopathy 2E IDs dilated cardiomyopathy 2E DOID:0081161 OMIM:619492
				hypertrophic cardiomyopathy 17 IDs hypertrophic cardiomyopathy 17 DOID:0110323 OMIM:613873

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Endonuclease-mediated

3
Targeted

3
Transgenic

1
Genomic Mutations

1 involving Jph2
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5.

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All GO Annotations

37
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

801
Tissues

30
cDNA Data

22
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN jph2

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All Sequences

39
RefSeq

6
UniProt

1
CCDS

CCDS17008.1

Ensembl

ENSMUSG00000017817 (Evidence)
NCBI Gene

59091

			Length	Strain/Species	Flank
genomic	ENSMUSG00000017817	Ensembl Gene Model \| MGI Sequence Detail	61752	C57BL/6J	± kb
transcript	ENSMUST00000017961	Ensembl \| MGI Sequence Detail	4211	Not Applicable
polypeptide	ENSMUSP00000017961	Ensembl \| MGI Sequence Detail	696	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000009223 junctophilin-2

(term hierarchy)
InterPro Domains

IPR017191 Junctophilin

IPR003409 MORN repeat
GlyGen

Q9ET78 1 site, 1 O-linked glycan (1 site)

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All nucleic 25

cDNA 23

Primer pair 1

Other 1

Microarray probesets 5

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MGI:1915700

Summaries

All 55

Developmental Gene Expression 6

Gene Ontology 10

Phenotypes 10
Earliest

J:63879 Takeshima H, et al., Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell. 2000 Jul;6(1):11-22
Latest

J:300262 Wang S, et al., SERCA2a ameliorates cardiomyocyte T-tubule remodeling via the calpain/JPH2 pathway to improve cardiac function in myocardial ischemia/reperfusion mice. Sci Rep. 2021 Jan 21;11(1):2037

TSS for Jph2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr27289	Chr2:163239866-163239920 (-)	20 bp
Tssr27288	Chr2:163239833-163239864 (-)	64 bp
Tssr27287	Chr2:163239807-163239819 (-)	100 bp
Tssr27286	Chr2:163239762-163239776 (-)	144 bp
Tssr27285	Chr2:163217332-163217347 (-)	22,573 bp
Tssr27284	Chr2:163199290-163199299 (-)	40,618 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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