Jph3 MGI Mouse Gene Detail - MGI:1891497

Symbol

Jph3
Name

junctophilin 3
Synonyms

JP-3

Feature Type

protein coding gene
IDs

MGI:1891497
NCBI Gene: 57340
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr8:122457298-122517822 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 70.73 cM, cytoband E1
Mapping Data

2 experiments

SNPs within 2kb

1978 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1891497	protein coding gene	Chr8:122456362-122521015 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034215	protein coding gene	Chr8:125258439-125324173 (+)
A/J	MGP_AJ_G0034195	protein coding gene	Chr8:120052448-120118903 (+)
AKR/J	MGP_AKRJ_G0034122	protein coding gene	Chr8:123575823-123640642 (+)
BALB/cJ	MGP_BALBcJ_G0034189	protein coding gene	Chr8:120258266-120323293 (+)
C3H/HeJ	MGP_C3HHeJ_G0033900	protein coding gene	Chr8:124276883-124341155 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034709	protein coding gene	Chr8:129432301-129499927 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031651	protein coding gene	Chr8:112888455-112953580 (+)
CAST/EiJ	MGP_CASTEiJ_G0033227	protein coding gene	Chr8:124326244-124393175 (+)
CBA/J	MGP_CBAJ_G0033873	protein coding gene	Chr8:134197133-134264450 (+)
DBA/2J	MGP_DBA2J_G0034029	protein coding gene	Chr8:119246845-119311279 (+)
FVB/NJ	MGP_FVBNJ_G0033972	protein coding gene	Chr8:118365848-118430925 (+)
LP/J	MGP_LPJ_G0034118	protein coding gene	Chr8:125388749-125453173 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034019	protein coding gene	Chr8:136417067-136483684 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034727	protein coding gene	Chr8:123747060-123813138 (+)
PWK/PhJ	MGP_PWKPhJ_G0032929	protein coding gene	Chr8:119061549-119128445 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032769	protein coding gene	Chr8:122466477-122532048 (+)
WSB/EiJ	MGP_WSBEiJ_G0033343	protein coding gene	Chr8:124502229-124568043 (+)

Human Ortholog

JPH3, junctophilin 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

JPH3, junctophilin 3
Synonyms

CAGL237, HDL2, JP-3, JP3, TNRC22
Links

HGNC:14203

NCBI Gene ID: 57338

neXtProt AC: NX_Q8WXH2

UniProt: Q8WXH2
Chr Location

16q24.2; chr16:87601835-87698156 (+) GRCh38

MGI Vertebrate Homology

Jph3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: JPH3
Protein SuperFamily

Junctophilin
Gene Tree

Jph3

Diseases

1 with human JPH3 associations

				Human Disease	Mouse Models
				Huntington's disease-like 2 IDs Huntington's disease-like 2 DOID:0090104 ICD10CM:G10 OMIM:606438 ORDO:98934

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

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
13 phenotypes from multigenic genotypes
1 images
9 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

6
Endonuclease-mediated

3
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available

Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination.

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All GO Annotations

17
GO References

4

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

797
Tissues

61
cDNA Data

11
Literature Summary

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase jph3

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All Sequences

41
RefSeq

2
UniProt

2
CCDS

CCDS22728.1

Ensembl

ENSMUSG00000025318 (Evidence)
NCBI Gene

57340

			Length	Strain/Species	Flank
genomic	57340	NCBI Gene Model \| MGI Sequence Detail	60525	C57BL/6J	± kb
transcript	NM_020605	RefSeq \| MGI Sequence Detail	3903	C57BL/6
polypeptide	Q9ET77	UniProt \| EBI \| MGI Sequence Detail	744	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009224 junctophilin-3

(term hierarchy)
InterPro Domains

IPR017191 Junctophilin

IPR003409 MORN repeat

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All nucleic 13

cDNA 11

Other 2

Microarray probesets 6

Summaries

All 32

Developmental Gene Expression 4

Gene Ontology 4

Phenotypes 9
Earliest

J:63789 Fadeel B, et al., The most unkindest cut of all: on the multiple roles of mammalian caspases. Leukemia. 2000 Aug;14(8):1514-25
Latest

J:339532 Li J, et al., Integrative genomic analysis of early neurogenesis reveals a temporal genetic program for differentiation and specification of preplate and Cajal-Retzius neurons. PLoS Genet. 2021 Mar;17(3):e1009355

TSS for Jph3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79817	Chr8:122456701-122456738 (+)	-578 bp
Tssr2711	Chr8:122456748-122456758 (+)	-545 bp
Tssr79818	Chr8:122456818-122456903 (+)	-437 bp
Tssr79819	Chr8:122457072-122457097 (+)	-213 bp
Tssr79820	Chr8:122457111-122457126 (+)	-179 bp
Tssr79821	Chr8:122457130-122457143 (+)	-161 bp
Tssr79822	Chr8:122457326-122457328 (+)	29 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24