Pjvk MGI Mouse Gene Detail - MGI:2685847

Symbol

Pjvk
Name

pejvakin
Synonyms

Dfnb59, LOC381375, pejvakin

Feature Type

protein coding gene
IDs

MGI:2685847
NCBI Gene: 381375
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:76480617-76488898 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 45.08 cM
Mapping Data

1 experiment

SNPs within 2kb

300 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685847	protein coding gene	Chr2:76478820-76488900 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025867	protein coding gene	Chr2:77043244-77053351 (+)
A/J	MGP_AJ_G0025844	protein coding gene	Chr2:74055748-74065801 (+)
AKR/J	MGP_AKRJ_G0025813	protein coding gene	Chr2:76045891-76055899 (+)
BALB/cJ	MGP_BALBcJ_G0025839	protein coding gene	Chr2:74230237-74240321 (+)
C3H/HeJ	MGP_C3HHeJ_G0025599	protein coding gene	Chr2:76251107-76261119 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026286	protein coding gene	Chr2:79327656-79338984 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023689	protein coding gene	Chr2:71459498-71469335 (+)
CAST/EiJ	MGP_CASTEiJ_G0025061	protein coding gene	Chr2:76590816-76599658 (+)
CBA/J	MGP_CBAJ_G0025580	protein coding gene	Chr2:82264057-82274072 (+)
DBA/2J	MGP_DBA2J_G0025711	protein coding gene	Chr2:73643914-73654010 (+)
FVB/NJ	MGP_FVBNJ_G0025673	protein coding gene	Chr2:73036412-73046381 (+)
LP/J	MGP_LPJ_G0025799	protein coding gene	Chr2:76927209-76937302 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025704	protein coding gene	Chr2:84086414-84096793 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026342	protein coding gene	Chr2:76171976-76181920 (+)
PWK/PhJ	MGP_PWKPhJ_G0024804	protein coding gene	Chr2:73605485-73615702 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024610	protein coding gene	Chr2:76421529-76432116 (+)
WSB/EiJ	MGP_WSBEiJ_G0025130	protein coding gene	Chr2:76639514-76652164 (+)

Human Ortholog

PJVK, pejvakin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PJVK, pejvakin
Synonyms

DFNB59
Links

HGNC:29502

NCBI Gene ID: 494513

neXtProt AC: NX_Q0ZLH3

UniProt: Q0ZLH3
Chr Location

2q31.2; chr2:178451346-178462102 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PJVK
Gene Tree

Pjvk

Diseases

1 with Pjvk mouse models; 1 with human PJVK associations

Human Disease

Mouse Models

autosomal recessive nonsyndromic deafness 59

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

12 phenotypes from 3 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
22 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

16
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

2
Targeted

6
Genomic Mutations

3 involving Pjvk
Incidental Mutations

APF
Find Mice (IMSR)

20 strains or lines available

Mice homozygous for a point mutation display increased auditory thresholds.

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All GO Annotations

27
GO References

7

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

706
cDNA Data

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pjvk

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All Sequences

35
RefSeq

4
UniProt

3
CCDS

CCDS38153.1

Ensembl

ENSMUSG00000075267 (Evidence)
NCBI Gene

381375

			Length	Strain/Species	Flank
genomic	381375	NCBI Gene Model \| MGI Sequence Detail	8282	C57BL/6J	± kb
transcript	NM_001080711	RefSeq \| MGI Sequence Detail	1217	C57BL/6
polypeptide	Q0ZLH2	UniProt \| EBI \| MGI Sequence Detail	352	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012768 pejvakin

(term hierarchy)
InterPro Domains

IPR042377 Gasdermin-E

IPR040460 Gasdermin, pore forming domain

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All nucleic 4

cDNA 4

Microarray probesets 1

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MGI:5906156

Summaries

All 35

Diseases 1

Gene Ontology 7

Phenotypes 22
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pjvk:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18500	Chr2:76480608-76480622 (+)	-2 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 11/05/2024 MGI 6.24