Pcdh19 MGI Mouse Gene Detail - MGI:2685563

Symbol

Pcdh19
Name

protocadherin 19
Synonyms

B530002L05Rik, LOC279653, mKIAA1313

Feature Type

protein coding gene
IDs

MGI:2685563
NCBI Gene: 279653
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

ChrX:132483609-132589736 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 55.21 cM
Mapping Data

1 experiment

SNPs within 2kb

1518 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685563	protein coding gene	ChrX:132483609-132589802 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0036054	protein coding gene	ChrX:130727745-130836943 (-)
A/J	MGP_AJ_G0036037	protein coding gene	ChrX:130143342-130259533 (-)
AKR/J	MGP_AKRJ_G0035956	protein coding gene	ChrX:134309597-134422067 (-)
BALB/cJ	MGP_BALBcJ_G0036028	protein coding gene	ChrX:128605957-128711520 (-)
C3H/HeJ	MGP_C3HHeJ_G0035732	protein coding gene	ChrX:130815492-130920396 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036550	protein coding gene	ChrX:134583068-134693122 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033378	protein coding gene	ChrX:122371064-122476335 (-)
CAST/EiJ	MGP_CASTEiJ_G0035019	protein coding gene	ChrX:111686156-111793643 (-)
CBA/J	MGP_CBAJ_G0035709	protein coding gene	ChrX:138611289-138723752 (-)
DBA/2J	MGP_DBA2J_G0035862	protein coding gene	ChrX:129497401-129603669 (-)
FVB/NJ	MGP_FVBNJ_G0035804	protein coding gene	ChrX:128808501-128915457 (-)
LP/J	MGP_LPJ_G0035955	protein coding gene	ChrX:131597527-131707262 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035832	protein coding gene	ChrX:145988002-146107653 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036579	protein coding gene	ChrX:130146534-130253876 (-)
PWK/PhJ	MGP_PWKPhJ_G0034711	protein coding gene	ChrX:108649219-108755083 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034543	protein coding gene	ChrX:112296496-112409705 (-)
WSB/EiJ	MGP_WSBEiJ_G0035156	protein coding gene	ChrX:128540685-128649223 (-)

Human Ortholog

PCDH19, protocadherin 19

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PCDH19, protocadherin 19
Synonyms

DEE9, EFMR, EIEE9
Links

HGNC:14270

NCBI Gene ID: 57526

neXtProt AC: NX_Q8TAB3

UniProt: Q8TAB3
Chr Location

Xq22.1; chrX:100291644-100410273 (-) GRCh38

MGI Vertebrate Homology

Pcdh19 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PCDH19
Gene Tree

Pcdh19

Diseases

1 with human PCDH19 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 9 IDs developmental and epileptic encephalopathy 9 DOID:0060848 OMIM:300088 ORDO:101039

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

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Phenotype Summary

5 phenotypes from 2 alleles in 1 genetic background
12 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

9
Endonuclease-mediated

7
Targeted

2
Find Mice (IMSR)

7 strains or lines available

Female mice heterozygous for a null mutation display abnormal electrocorticograms and distinct clusters of null and wild-type cells in the brain.

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All GO Annotations

4
GO References

2

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	non-membrane-bounded 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

894
Tissues

111
cDNA Data

34
Literature Summary

21

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PCDH19

Xenbase pcdh19

ZFIN pcdh19

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All Sequences

54
RefSeq

12
UniProt

5
CCDS

CCDS41117.1, CCDS53181.1

Ensembl

ENSMUSG00000051323 (Evidence)
NCBI Gene

279653

			Length	Strain/Species	Flank
genomic	ENSMUSG00000051323	Ensembl Gene Model \| MGI Sequence Detail	106128	C57BL/6J	± kb
transcript	ENSMUST00000149154	Ensembl \| MGI Sequence Detail	10289	Not Applicable
polypeptide	ENSMUSP00000116886	Ensembl \| MGI Sequence Detail	1145	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012349 protocadherin-19

(term hierarchy)
InterPro Domains

IPR020894 Cadherin conserved site

IPR002126 Cadherin-like

IPR015919 Cadherin-like superfamily

IPR013164 Cadherin, N-terminal

IPR050174 Protocadherin/Cadherin-related Cell Adhesion
GlyGen

Q80TF3 7 sites, 7 N-linked glycans (4 sites)

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All nucleic 37

cDNA 34

Primer pair 2

Other 1

Microarray probesets 3

Summaries

All 50

Developmental Gene Expression 21

Gene Ontology 2

Phenotypes 12
Earliest

J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
Latest

J:342586 Martinez AP, et al., Pcdh19 mediates olfactory sensory neuron coalescence during postnatal stages and regeneration. iScience. 2023 Nov 17;26(11):108220

TSS for Pcdh19:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr164115	ChrX:132589795-132589804 (-)	-64 bp
Tssr164114	ChrX:132589756-132589765 (-)	-25 bp
Tssr164113	ChrX:132589727-132589754 (-)	-5 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 10/29/2024 MGI 6.24