P2rx6 MGI Mouse Gene Detail - MGI:1337113 - purinergic receptor P2X, ligand-gated ion channel, 6

Symbol

P2rx6
Name

purinergic receptor P2X, ligand-gated ion channel, 6
Synonyms

P2rxl1, P2xm

Feature Type

protein coding gene
IDs

MGI:1337113
NCBI Gene: 18440
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr16:17379749-17389879 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 10.88 cM
Mapping Data

2 experiments

SNPs within 2kb

344 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1337113	protein coding gene	Chr16:17379749-17395664 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022585	protein coding gene	Chr16:14720364-14736277 (+)
A/J	MGP_AJ_G0022546	protein coding gene	Chr16:13991411-14007323 (+)
AKR/J	MGP_AKRJ_G0022523	protein coding gene	Chr16:14537540-14553455 (+)
BALB/cJ	MGP_BALBcJ_G0022549	protein coding gene	Chr16:14143936-14159849 (+)
C3H/HeJ	MGP_C3HHeJ_G0022316	protein coding gene	Chr16:14689918-14705831 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023000	protein coding gene	Chr16:14956843-14972758 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020520	protein coding gene	Chr16:14059536-14075576 (+)
CAST/EiJ	MGP_CASTEiJ_G0021844	protein coding gene	Chr16:14590494-14606791 (+)
CBA/J	MGP_CBAJ_G0022287	protein coding gene	Chr16:15627359-15643272 (+)
DBA/2J	MGP_DBA2J_G0022417	protein coding gene	Chr16:13909449-13925362 (+)
FVB/NJ	MGP_FVBNJ_G0022393	protein coding gene	Chr16:13951040-13966947 (+)
LP/J	MGP_LPJ_G0022484	protein coding gene	Chr16:14481075-14496988 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022414	protein coding gene	Chr16:15319886-15335801 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023011	protein coding gene	Chr16:14483804-14499719 (+)
PWK/PhJ	MGP_PWKPhJ_G0021587	protein coding gene	Chr16:14163331-14179704 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021415	protein coding gene	Chr16:14459948-14475845 (+)
WSB/EiJ	MGP_WSBEiJ_G0021891	protein coding gene	Chr16:14476483-14492437 (+)

Human Ortholog

P2RX6, purinergic receptor P2X 6

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P2RX6, purinergic receptor P2X 6
Synonyms

P2RXL1, P2X6, P2XM
Links

HGNC:8538

NCBI Gene ID: 9127

neXtProt AC: NX_O15547

UniProt: O15547
Chr Location

22q11.21; chr22:21009799-21028013 (+) GRCh38

MGI Vertebrate Homology

P2rx6 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: P2RX6
Protein SuperFamily

P2X_purinoceptor
Gene Tree

P2rx6

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References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
15 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

8
Endonuclease-mediated

2
Targeted

6
Genomic Mutations

1 involving P2rx6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available

Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures.

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All GO Annotations

32
GO References

8

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

722
Tissues

11
cDNA Data

5
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

41
RefSeq

5
UniProt

4
CCDS

CCDS28007.2, CCDS49778.1

Ensembl

ENSMUSG00000022758 (Evidence)
NCBI Gene

18440

			Length	Strain/Species	Flank
genomic	18440	NCBI Gene Model \| MGI Sequence Detail	10131	C57BL/6J	± kb
transcript	NM_011028	RefSeq \| MGI Sequence Detail	2362	C57BL/6
polypeptide	O54803	UniProt \| EBI \| MGI Sequence Detail	389	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012193 P2X purinoceptor 6

(term hierarchy)
InterPro Domains

IPR003049 P2X6 purinoceptor

IPR001429 P2X purinoreceptor

IPR027309 P2X purinoreceptor extracellular domain superfamily
GlyGen

O54803 3 sites, 1 N-linked glycan (1 site)

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All nucleic 9

Genomic 1

cDNA 6

Primer pair 2

Microarray probesets 4

Summaries

All 46

Developmental Gene Expression 4

Diseases 1

Gene Ontology 8

Phenotypes 15
Earliest

J:51784 Nawa G, et al., Cloning and characterization of the murine P2XM receptor gene. J Hum Genet. 1998;43(4):262-7
Latest

J:348704 Vong KI, et al., Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 May 3;384(6695):584-590

TSS for P2rx6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137312	Chr16:17379856-17379906 (+)	132 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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