Pkp2 MGI Mouse Gene Detail - MGI:1914701

Symbol

Pkp2
Name

plakophilin 2
Synonyms

1200008D14Rik, 1200012P04Rik, Pkp2l

Feature Type

protein coding gene
IDs

MGI:1914701
NCBI Gene: 67451
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr16:16031209-16090576 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 10.09 cM, cytoband B1
Mapping Data

3 experiments

SNPs within 2kb

1427 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914701	protein coding gene	Chr16:16031182-16090576 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022555	protein coding gene	Chr16:13316934-13376721 (+)
A/J	MGP_AJ_G0022516	protein coding gene	Chr16:12616706-12678464 (+)
AKR/J	MGP_AKRJ_G0022493	protein coding gene	Chr16:13123725-13189294 (+)
BALB/cJ	MGP_BALBcJ_G0022521	protein coding gene	Chr16:12785785-12845050 (+)
C3H/HeJ	MGP_C3HHeJ_G0022288	protein coding gene	Chr16:13221576-13282887 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022970	protein coding gene	Chr16:13483364-13543930 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020490	protein coding gene	Chr16:12706092-12768903 (+)
CAST/EiJ	MGP_CASTEiJ_G0021815	protein coding gene	Chr16:13162034-13220698 (+)
CBA/J	MGP_CBAJ_G0022257	protein coding gene	Chr16:14102040-14163925 (+)
DBA/2J	MGP_DBA2J_G0022389	protein coding gene	Chr16:12565654-12625768 (+)
FVB/NJ	MGP_FVBNJ_G0022364	protein coding gene	Chr16:12602718-12662074 (+)
LP/J	MGP_LPJ_G0022456	protein coding gene	Chr16:13107035-13165774 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022386	protein coding gene	Chr16:13785738-13844843 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022983	protein coding gene	Chr16:13069017-13129566 (+)
PWK/PhJ	MGP_PWKPhJ_G0021557	protein coding gene	Chr16:12792204-12851597 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021385	protein coding gene	Chr16:13057281-13120749 (+)
WSB/EiJ	MGP_WSBEiJ_G0021863	protein coding gene	Chr16:13076330-13136691 (+)

Human Ortholog

PKP2, plakophilin 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKP2, plakophilin 2
Synonyms

ARVD9
Links

HGNC:9024

NCBI Gene ID: 5318

neXtProt AC: NX_Q99959

UniProt: Q99959
Chr Location

12p11.21; chr12:32790745-32896798 (-) GRCh38

MGI Vertebrate Homology

Pkp2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PKP2
Gene Tree

Pkp2

Diseases

2 with human PKP2 associations

				Human Disease	Mouse Models
				arrhythmogenic right ventricular cardiomyopathy IDs arrhythmogenic right ventricular cardiomyopathy DOID:0050431 MESH:D019571 NCI:C84571 OMIM:PS107970 ORDO:217656 ORDO:247 UMLS_CUI:C0349788
				arrhythmogenic right ventricular dysplasia 9 IDs arrhythmogenic right ventricular dysplasia 9 DOID:0110077 ICD10CM:I42.8 OMIM:609040

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

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Phenotype Summary

12 phenotypes from 1 allele in 1 genetic background
2 images
21 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

11
Endonuclease-mediated

4
Gene trapped

3
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum.

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All GO Annotations

79
GO References

14

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

716
Tissues

7
cDNA Data

52
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pkp2

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All Sequences

41
RefSeq

2
UniProt

1
CCDS

CCDS27981.1

Ensembl

ENSMUSG00000041957 (Evidence)
NCBI Gene

67451

			Length	Strain/Species	Flank
genomic	67451	NCBI Gene Model \| MGI Sequence Detail	59368	C57BL/6J	± kb
transcript	NM_026163	RefSeq \| MGI Sequence Detail	2891	C57BL/6
polypeptide	Q9CQ73	UniProt \| EBI \| MGI Sequence Detail	795	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012791 plakophilin-2

(term hierarchy)
InterPro Domains

IPR000225 Armadillo

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR028435 Plakophilin/Delta catenin
GlyGen

Q9CQ73 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 53

cDNA 52

Primer pair 1

Microarray probesets 8

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MGI:1328349, MGI:1918991, MGI:2146346

Summaries

All 66

Developmental Gene Expression 11

Gene Ontology 14

Phenotypes 21
Earliest

J:51903 Gallicano GI, et al., Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998 Dec 28;143(7):2009-22
Latest

J:340865 Lluch A, et al., Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. Nat Commun. 2023 Aug 22;14(1):5106

TSS for Pkp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137236	Chr16:16030986-16031002 (+)	-215 bp
Tssr137237	Chr16:16031189-16031228 (+)	0 bp
Tssr137238	Chr16:16050292-16050296 (+)	19,085 bp
Tssr137239	Chr16:16087545-16087553 (+)	56,340 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 12/10/2024 MGI 6.24