Jph4 MGI Mouse Gene Detail - MGI:2443113

Symbol

Jph4
Name

junctophilin 4
Synonyms

9330157P13Rik, JP-4, JPHL1

Feature Type

protein coding gene
IDs

MGI:2443113
NCBI Gene: 319984
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr14:55344283-55354392 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 28.07 cM
Mapping Data

2 experiments

SNPs within 2kb

181 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443113	protein coding gene	Chr14:55344283-55354392 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021341	protein coding gene	Chr14:49107753-49117858 (-)
A/J	MGP_AJ_G0021300	protein coding gene	Chr14:48127257-48137362 (-)
AKR/J	MGP_AKRJ_G0021276	protein coding gene	Chr14:49876834-49886938 (-)
BALB/cJ	MGP_BALBcJ_G0021304	protein coding gene	Chr14:48104875-48114981 (-)
C3H/HeJ	MGP_C3HHeJ_G0021084	protein coding gene	Chr14:49566957-49577062 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021742	protein coding gene	Chr14:51596392-51606497 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019289	protein coding gene	Chr14:46532677-46542759 (-)
CAST/EiJ	MGP_CASTEiJ_G0020603	protein coding gene	Chr14:45816033-45826137 (-)
CBA/J	MGP_CBAJ_G0021051	protein coding gene	Chr14:53151341-53161446 (-)
DBA/2J	MGP_DBA2J_G0021172	protein coding gene	Chr14:47867296-47877402 (-)
FVB/NJ	MGP_FVBNJ_G0021154	protein coding gene	Chr14:47334762-47344866 (-)
LP/J	MGP_LPJ_G0021246	protein coding gene	Chr14:50158284-50168389 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021178	protein coding gene	Chr14:52516657-52526762 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021769	protein coding gene	Chr14:49062302-49072406 (-)
PWK/PhJ	MGP_PWKPhJ_G0020350	protein coding gene	Chr14:44407484-44417649 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020178	protein coding gene	Chr14:45053158-45063298 (-)
WSB/EiJ	MGP_WSBEiJ_G0020656	protein coding gene	Chr14:49358046-49368178 (-)

Human Ortholog

JPH4, junctophilin 4

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

JPH4, junctophilin 4
Synonyms

JP4, JPHL1
Links

HGNC:20156

NCBI Gene ID: 84502

neXtProt AC: NX_Q96JJ6

UniProt: Q96JJ6
Chr Location

14q11.2; chr14:23568038-23578790 (-) GRCh38

MGI Vertebrate Homology

Jph4 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: JPH4
Protein SuperFamily

Junctophilin
Gene Tree

Jph4

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
13 phenotypes from multigenic genotypes
1 images
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
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

3
Genomic Mutations

1 involving Jph4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

23 strains or lines available

Mice homozygous for a knock-out allele exhibit a reduction in endoplasmic reticulum Ca²⁺ content, store-operated Ca²⁺ entry and cytokine production in T cells and decreased ERK activation after TCR stimulation.

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All GO Annotations

14
GO References

5

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

995
Tissues

97
cDNA Data

14
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase jph4

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All Sequences

49
RefSeq

2
UniProt

3
CCDS

CCDS27109.1

Ensembl

ENSMUSG00000022208 (Evidence)
NCBI Gene

319984

			Length	Strain/Species	Flank
genomic	319984	NCBI Gene Model \| MGI Sequence Detail	10110	C57BL/6J	± kb
transcript	NM_177049	RefSeq \| MGI Sequence Detail	4489	C57BL/6
polypeptide	Q80WT0	UniProt \| EBI \| MGI Sequence Detail	628	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000009225 junctophilin-4

(term hierarchy)
InterPro Domains

IPR017191 Junctophilin

IPR003409 MORN repeat

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All nucleic 15

cDNA 14

Other 1

Microarray probesets 3

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MGI:2145632

Summaries

All 36

Developmental Gene Expression 5

Gene Ontology 5

Phenotypes 10
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Jph4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr128820	Chr14:55354401-55354437 (-)	-27 bp
Tssr128819	Chr14:55354097-55354106 (-)	290 bp
Tssr128818	Chr14:55354072-55354094 (-)	309 bp
Tssr128817	Chr14:55354043-55354066 (-)	337 bp
Tssr128816	Chr14:55354018-55354042 (-)	362 bp
Tssr128815	Chr14:55354004-55354011 (-)	384 bp
Tssr4427	Chr14:55353870-55353873 (-)	520 bp
Tssr128814	Chr14:55353854-55353865 (-)	532 bp
Tssr128813	Chr14:55353685-55353730 (-)	684 bp
Tssr128812	Chr14:55353661-55353683 (-)	720 bp
Tssr128811	Chr14:55353622-55353647 (-)	757 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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