Pcp4 MGI Mouse Gene Detail - MGI:97509 - Purkinje cell protein 4

Symbol

Pcp4
Name

Purkinje cell protein 4
Synonyms

P16Rimb19, Pcp-4, Pep19

Feature Type

protein coding gene
IDs

MGI:97509
NCBI Gene: 18546
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr16:96268806-96326993 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 56.97 cM
Mapping Data

18 experiments

SNPs within 2kb

1668 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97509	protein coding gene	Chr16:96268806-96326993 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023087	protein coding gene	Chr16:97852209-97912619 (+)
A/J	MGP_AJ_G0023055	protein coding gene	Chr16:93221109-93280342 (+)
AKR/J	MGP_AKRJ_G0023025	protein coding gene	Chr16:96086839-96147937 (+)
BALB/cJ	MGP_BALBcJ_G0023057	protein coding gene	Chr16:93772668-93831685 (+)
C3H/HeJ	MGP_C3HHeJ_G0022818	protein coding gene	Chr16:96613959-96674232 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023504	protein coding gene	Chr16:100950879-101010443 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021006	protein coding gene	Chr16:91062703-91121384 (+)
CAST/EiJ	MGP_CASTEiJ_G0022338	protein coding gene	Chr16:97413413-97474374 (+)
CBA/J	MGP_CBAJ_G0022787	protein coding gene	Chr16:105314316-105377434 (+)
DBA/2J	MGP_DBA2J_G0022921	protein coding gene	Chr16:93096245-93154273 (+)
FVB/NJ	MGP_FVBNJ_G0022895	protein coding gene	Chr16:92267333-92325733 (+)
LP/J	MGP_LPJ_G0022991	protein coding gene	Chr16:97492726-97553451 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022916	protein coding gene	Chr16:109525153-109586831 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023522	protein coding gene	Chr16:96622197-96681282 (+)
PWK/PhJ	MGP_PWKPhJ_G0022082	protein coding gene	Chr16:93387799-93448700 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021912	protein coding gene	Chr16:96162984-96225014 (+)
WSB/EiJ	MGP_WSBEiJ_G0022388	protein coding gene	Chr16:96889805-96951997 (+)

Human Ortholog

PCP4, Purkinje cell protein 4

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PCP4, Purkinje cell protein 4
Synonyms

PEP-19
Links

HGNC:8742

NCBI Gene ID: 5121

neXtProt AC: NX_P48539

UniProt: P48539
Chr Location

21q22.2; chr21:39867438-39929397 (+) GRCh38

MGI Vertebrate Homology

Pcp4 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PCP4
Gene Tree

Pcp4

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References

6 with disease annotations

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
2 phenotypes from multigenic genotypes
91 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

12
Endonuclease-mediated

1
Spontaneous

1
Targeted

9
Genomic Mutations

6 involving Pcp4
Find Mice (IMSR)

7 strains or lines available

Mice homozygous for a knock-out allele exhibit impaired motor learning and abnormal synaptic plasticity.

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All GO Annotations

18
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

1330
Tissues

308
cDNA Data

19
Literature Summary

42

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pcp4

ZFIN pcp4a

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All Sequences

38
RefSeq

2
UniProt

3
CCDS

CCDS37414.1

Ensembl

ENSMUSG00000090223 (Evidence)
NCBI Gene

18546

			Length	Strain/Species	Flank
genomic	18546	NCBI Gene Model \| MGI Sequence Detail	58188	C57BL/6J	± kb
transcript	NM_008791	RefSeq \| MGI Sequence Detail	658	Not Specified
polypeptide	P63054	UniProt \| EBI \| MGI Sequence Detail	62	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012431 calmodulin regulator protein PCP4

(term hierarchy)
InterPro Domains

IPR052142 Calmodulin Regulator PCP4-like

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All nucleic 41

Genomic 8

cDNA 20

Primer pair 8

Other 5

Microarray probesets 3

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MGD-MRK-13098, MGD-MRK-13184, MGD-MRK-13187

Summaries

All 168

Developmental Gene Expression 42

Diseases 6

Gene Ontology 5

Phenotypes 91
Earliest

J:14637 Oberdick J, et al., A Purkinje cell differentiation marker shows a partial DNA sequence homology to the cellular sis/PDGF2 gene [published erratum appears in Neuron 1989 Sep;3(3):following 385]. Neuron. 1988 Jul;1(5):367-76
Latest

J:355142 Gomez-Del Arco P, et al., The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. Nat Commun. 2024 Oct 4;15(1):8602

TSS for Pcp4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr139672	Chr16:96268909-96268925 (+)	111 bp
Tssr139673	Chr16:96295011-96295032 (+)	26,216 bp
Tssr139674	Chr16:96300441-96300451 (+)	31,640 bp
Tssr139675	Chr16:96300676-96300685 (+)	31,875 bp
Tssr139676	Chr16:96326590-96326601 (+)	57,790 bp
Tssr139677	Chr16:96326605-96326655 (+)	57,824 bp
Tssr139678	Chr16:96326699-96326763 (+)	57,925 bp
Tssr139679	Chr16:96326798-96326809 (+)	57,998 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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