P2RX4 (purinergic receptor P2X 4) - Rat Genome Database

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Gene: P2RX4 (purinergic receptor P2X 4) Homo sapiens
Analyze
Symbol: P2RX4
Name: purinergic receptor P2X 4
RGD ID: 732285
HGNC Page HGNC:8535
Description: Enables several functions, including cadherin binding activity; identical protein binding activity; and ligand-gated monoatomic cation channel activity. Involved in several processes, including cellular response to ATP; positive regulation of endothelial cell migration; and regulation of muscle system process. Located in several cellular components, including cell junction; lysosomal membrane; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP receptor; ATP-gated cation channel protein; P2X purinoceptor 4; P2X receptor, subunit 4; P2X4; P2X4R; purinergic receptor P2X, ligand gated ion channel, 4; purinergic receptor P2X, ligand-gated ion channel, 4; purinergic receptor P2X4; purinoceptor P2X4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW476_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812121,210,129 - 121,234,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12121,210,065 - 121,234,106 (+)EnsemblGRCh38hg38GRCh38
GRCh3712121,647,932 - 121,671,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612120,132,047 - 120,156,292 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412120,110,383 - 120,134,627NCBI
Celera12121,285,420 - 121,309,664 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBIHuRef
CHM1_112121,616,508 - 121,640,746 (+)NCBICHM1_1
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
ATP  (EXP,ISO)
atrazine  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
benzoates  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
ginsenoside C-K  (EXP)
ginsenoside Rb1  (EXP)
ginsenoside Rd  (EXP)
heptachlor  (ISO)
hydroquinone  (EXP)
inulin  (ISO)
ivermectin  (EXP,ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
luteolin  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nitrogen dioxide  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
toluene 2,4-diisocyanate  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
XL147  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic signaling pathway  (IDA)
behavioral response to pain  (IEA,ISS)
calcium ion transmembrane transport  (IBA,IDA,IEA)
calcium ion transport  (ISO)
calcium-mediated signaling  (TAS)
cellular response to ATP  (IDA,IEA,ISO)
cellular response to zinc ion  (IEA,ISS)
clathrin-dependent endocytosis  (ISO)
endothelial cell activation  (TAS)
excitatory postsynaptic potential  (IEA,ISO)
inorganic cation transmembrane transport  (IEA,ISO)
membrane depolarization  (IDA)
monoatomic cation transmembrane transport  (IEA)
monoatomic ion transmembrane transport  (IDA,IEA)
monoatomic ion transport  (IEA)
negative regulation of cardiac muscle hypertrophy  (IMP)
neuronal action potential  (IEA,ISO)
nitric oxide biosynthetic process  (ISO)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of calcium ion transport  (NAS)
positive regulation of calcium ion transport into cytosol  (IDA,IMP)
positive regulation of calcium-mediated signaling  (IDA,IMP)
positive regulation of endothelial cell chemotaxis  (IMP)
positive regulation of microglial cell migration  (IEA,ISS,TAS)
positive regulation of nitric oxide biosynthetic process  (NAS)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS)
positive regulation of prostaglandin secretion  (NAS)
purinergic nucleotide receptor signaling pathway  (IEA,IMP)
regulation of blood pressure  (IMP)
regulation of cardiac muscle contraction  (IMP)
regulation of chemotaxis  (IEA,ISS)
regulation of response to drug  (ISO)
regulation of ruffle assembly  (ISS)
regulation of sodium ion transport  (IEA,ISS)
relaxation of cardiac muscle  (IMP)
response to ATP  (IDA,IEA)
response to axon injury  (IEA,ISS)
response to fluid shear stress  (IDA)
response to ischemia  (IEA,ISS)
sensory perception of pain  (IEA,ISS)
sensory perception of touch  (IEA,ISS)
signal transduction  (IDA,IEA)
tissue homeostasis  (NAS)
transmembrane transport  (IEA)
vasodilation  (ISO)

Cellular Component
apical part of cell  (ISO)
axon  (IEA,ISO)
cell body  (IEA,ISS)
cell junction  (IDA)
dendrite  (IEA,ISO)
dendritic spine  (IEA,ISO)
extracellular exosome  (HDA)
lysosomal membrane  (HDA,IDA,IEA,ISO)
lysosome  (IEA)
membrane  (HDA,IDA,IEA)
neuronal cell body  (IEA,ISO)
perinuclear region of cytoplasm  (IDA)
plasma membrane  (IBA,IC,IDA,IEA,IMP,ISS,TAS)
postsynapse  (IEA)
terminal bouton  (IEA,ISO)

References

References - curated
# Reference Title Reference Citation
1. Regulation of neuronal type genes in congestive heart failure rats. Andersson KB, etal., Acta Physiol (Oxf). 2006 Jan;186(1):17-27.
2. Microglial P2X4R-evoked pain hypersensitivity is sexually dimorphic in rats. Mapplebeck JCS, etal., Pain. 2018 Sep;159(9):1752-1763. doi: 10.1097/j.pain.0000000000001265.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:9016352   PMID:9221902   PMID:10515189   PMID:10899068   PMID:10969036   PMID:11299224   PMID:11606481   PMID:12088286   PMID:12270951   PMID:12477932   PMID:12714321  
PMID:12819199   PMID:14978347   PMID:15006691   PMID:15130891   PMID:15167446   PMID:15262999   PMID:16533808   PMID:16949036   PMID:17197037   PMID:17264311   PMID:17299767   PMID:17785580  
PMID:17895406   PMID:17897319   PMID:18487206   PMID:18635539   PMID:18678988   PMID:18852390   PMID:19056867   PMID:19226284   PMID:19283779   PMID:19552691   PMID:19562525   PMID:19913121  
PMID:19946888   PMID:19953327   PMID:20628086   PMID:20660288   PMID:20699225   PMID:21106936   PMID:21768526   PMID:21808018   PMID:21873635   PMID:21899776   PMID:21988832   PMID:22068874  
PMID:22219189   PMID:22528681   PMID:22753954   PMID:22837036   PMID:22988022   PMID:22996386   PMID:23086000   PMID:23138503   PMID:23303206   PMID:23434541   PMID:23533145   PMID:23936165  
PMID:23959888   PMID:24817123   PMID:24845338   PMID:24935743   PMID:25416956   PMID:25480524   PMID:25563726   PMID:25938443   PMID:26101220   PMID:26186194   PMID:26865631   PMID:26946358  
PMID:28302727   PMID:28326637   PMID:28458288   PMID:28514442   PMID:28912710   PMID:29077063   PMID:29255078   PMID:29428485   PMID:30343397   PMID:30358443   PMID:30362154   PMID:31401785  
PMID:32296183   PMID:32460013   PMID:32679900   PMID:32756482   PMID:32805257   PMID:32971737   PMID:33838119   PMID:33961781   PMID:34404763   PMID:34471006   PMID:34638832   PMID:35352488  
PMID:35676684   PMID:36385525   PMID:37166584  


Genomics

Comparative Map Data
P2RX4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812121,210,129 - 121,234,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12121,210,065 - 121,234,106 (+)EnsemblGRCh38hg38GRCh38
GRCh3712121,647,932 - 121,671,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612120,132,047 - 120,156,292 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412120,110,383 - 120,134,627NCBI
Celera12121,285,420 - 121,309,664 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBIHuRef
CHM1_112121,616,508 - 121,640,746 (+)NCBICHM1_1
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBIT2T-CHM13v2.0
P2rx4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395122,845,581 - 122,867,802 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5122,845,607 - 122,867,801 (+)EnsemblGRCm39 Ensembl
GRCm385122,707,518 - 122,729,739 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5122,707,544 - 122,729,738 (+)EnsemblGRCm38mm10GRCm38
MGSCv375123,157,566 - 123,179,053 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365122,968,240 - 122,989,661 (+)NCBIMGSCv36mm8
Celera5119,785,375 - 119,806,787 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map562.53NCBI
P2rx4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81239,505,438 - 39,523,349 (-)NCBIGRCr8
mRatBN7.21233,844,609 - 33,862,265 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1233,844,396 - 33,862,253 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,022,338 - 35,040,001 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01235,633,773 - 35,651,436 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01234,686,065 - 34,703,728 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01239,308,022 - 39,325,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1239,308,025 - 39,325,673 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01241,196,777 - 41,214,428 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41234,943,900 - 34,961,551 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11234,807,290 - 34,824,939 (-)NCBI
Celera1235,521,444 - 35,539,095 (-)NCBICelera
Cytogenetic Map12q16NCBI
P2rx4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554827,031,874 - 7,039,220 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554827,031,874 - 7,039,026 (-)NCBIChiLan1.0ChiLan1.0
P2RX4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210129,294,836 - 129,319,045 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112129,291,253 - 129,315,419 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012118,807,961 - 118,832,267 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112122,178,668 - 122,202,959 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12122,178,672 - 122,202,959 (+)Ensemblpanpan1.1panPan2
P2RX4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1267,897,528 - 7,914,279 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl267,898,015 - 7,914,234 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha268,062,300 - 8,079,042 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0268,155,694 - 8,172,441 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl268,155,705 - 8,172,399 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1268,115,630 - 8,132,371 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0268,174,205 - 8,190,943 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0268,130,559 - 8,147,306 (-)NCBIUU_Cfam_GSD_1.0
P2rx4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118156,402,015 - 156,417,147 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365583,059,886 - 3,077,451 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365583,062,279 - 3,077,493 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P2RX4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1431,368,303 - 31,387,905 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11431,368,542 - 31,387,960 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21433,232,162 - 33,251,989 (-)NCBISscrofa10.2Sscrofa10.2susScr3
P2RX4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111116,585,276 - 116,609,401 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11116,585,586 - 116,609,511 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037128,472,594 - 128,496,813 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
P2rx4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474721,783,381 - 21,796,260 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474721,783,445 - 21,796,501 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in P2RX4
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:121110993-121325874)x3 copy number gain See cases [RCV000135179] Chr12:121110993..121325874 [GRCh38]
Chr12:121548796..121763677 [GRCh37]
Chr12:120033179..120248060 [NCBI36]
Chr12:12q24.31		 likely benign
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3 copy number gain See cases [RCV000447978] Chr12:121441298..122107345 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_002560.3(P2RX4):c.893A>C (p.Lys298Thr) single nucleotide variant not provided [RCV000969632] Chr12:121232422 [GRCh38]
Chr12:121670225 [GRCh37]
Chr12:12q24.31		 likely benign
NM_002560.3(P2RX4):c.978+8G>A single nucleotide variant not provided [RCV000879633] Chr12:121232515 [GRCh38]
Chr12:121670318 [GRCh37]
Chr12:12q24.31		 benign
NM_002560.3(P2RX4):c.33C>T (p.Phe11=) single nucleotide variant not provided [RCV000919550] Chr12:121210197 [GRCh38]
Chr12:121648000 [GRCh37]
Chr12:12q24.31		 likely benign
NM_002560.3(P2RX4):c.194C>T (p.Thr65Met) single nucleotide variant not provided [RCV000917745] Chr12:121217193 [GRCh38]
Chr12:121654996 [GRCh37]
Chr12:12q24.31		 likely benign
NM_002560.3(P2RX4):c.1045-10C>G single nucleotide variant not provided [RCV000903787] Chr12:121232987 [GRCh38]
Chr12:121670790 [GRCh37]
Chr12:12q24.31		 benign
NM_002560.3(P2RX4):c.7G>T (p.Gly3Cys) single nucleotide variant not provided [RCV000953321] Chr12:121210171 [GRCh38]
Chr12:121647974 [GRCh37]
Chr12:12q24.31		 benign
NM_002560.3(P2RX4):c.427+5G>C single nucleotide variant not provided [RCV000889261] Chr12:121222171 [GRCh38]
Chr12:121659974 [GRCh37]
Chr12:12q24.31		 benign
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_002560.3(P2RX4):c.245G>A (p.Arg82Gln) single nucleotide variant Inborn genetic diseases [RCV003304665] Chr12:121217244 [GRCh38]
Chr12:121655047 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121551496-121771295)x3 copy number gain not provided [RCV002473864] Chr12:121551496..121771295 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.346T>A (p.Cys116Ser) single nucleotide variant Inborn genetic diseases [RCV002682287] Chr12:121221976 [GRCh38]
Chr12:121659779 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.874T>C (p.Tyr292His) single nucleotide variant Inborn genetic diseases [RCV002993306] Chr12:121229089 [GRCh38]
Chr12:121666892 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.829C>T (p.Arg277Cys) single nucleotide variant Inborn genetic diseases [RCV002992340] Chr12:121229044 [GRCh38]
Chr12:121666847 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.929C>T (p.Thr310Met) single nucleotide variant Inborn genetic diseases [RCV002659899] Chr12:121232458 [GRCh38]
Chr12:121670261 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.1015A>G (p.Ile339Val) single nucleotide variant Inborn genetic diseases [RCV002758681] Chr12:121232647 [GRCh38]
Chr12:121670450 [GRCh37]
Chr12:12q24.31		 likely benign
NM_002560.3(P2RX4):c.112C>T (p.Leu38Phe) single nucleotide variant Inborn genetic diseases [RCV002830656] Chr12:121210276 [GRCh38]
Chr12:121648079 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.952C>T (p.Arg318Cys) single nucleotide variant Inborn genetic diseases [RCV002764003] Chr12:121232481 [GRCh38]
Chr12:121670284 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.211G>A (p.Val71Met) single nucleotide variant Inborn genetic diseases [RCV002712471] Chr12:121217210 [GRCh38]
Chr12:121655013 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.395G>A (p.Cys132Tyr) single nucleotide variant Inborn genetic diseases [RCV002900847] Chr12:121222134 [GRCh38]
Chr12:121659937 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.958G>A (p.Asp320Asn) single nucleotide variant Inborn genetic diseases [RCV003008689] Chr12:121232487 [GRCh38]
Chr12:121670290 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.330C>A (p.Asn110Lys) single nucleotide variant Inborn genetic diseases [RCV002722295] Chr12:121221960 [GRCh38]
Chr12:121659763 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.1103G>A (p.Arg368Gln) single nucleotide variant Inborn genetic diseases [RCV003206729] Chr12:121233055 [GRCh38]
Chr12:121670858 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.260C>G (p.Ala87Gly) single nucleotide variant Inborn genetic diseases [RCV003186077] Chr12:121217259 [GRCh38]
Chr12:121655062 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.520C>T (p.Pro174Ser) single nucleotide variant Inborn genetic diseases [RCV003213519] Chr12:121223039 [GRCh38]
Chr12:121660842 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.1153G>A (p.Glu385Lys) single nucleotide variant Inborn genetic diseases [RCV003266173] Chr12:121233535 [GRCh38]
Chr12:121671338 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3 copy number gain See cases [RCV003329531] Chr12:121341598..124103434 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_002560.3(P2RX4):c.131T>C (p.Ile44Thr) single nucleotide variant Inborn genetic diseases [RCV003361317] Chr12:121210295 [GRCh38]
Chr12:121648098 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4957
Count of miRNA genes:984
Interacting mature miRNAs:1214
Transcripts:ENST00000314442, ENST00000337233, ENST00000359949, ENST00000397924, ENST00000499638, ENST00000538417, ENST00000538701, ENST00000540930, ENST00000541187, ENST00000541532, ENST00000542067, ENST00000543171, ENST00000543318, ENST00000543430, ENST00000543984
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH76377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,671,656 - 121,671,900UniSTSGRCh37
Build 3612120,156,039 - 120,156,283RGDNCBI36
Celera12121,309,411 - 121,309,655RGD
Cytogenetic Map12q24.32UniSTS
HuRef12118,681,259 - 118,681,503UniSTS
PG4S01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,647,882 - 121,648,226UniSTSGRCh37
Build 3612120,132,265 - 120,132,609RGDNCBI36
Celera12121,285,639 - 121,285,983RGD
HuRef12118,657,464 - 118,657,808UniSTS
PG4S02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,654,836 - 121,655,180UniSTSGRCh37
Build 3612120,139,219 - 120,139,563RGDNCBI36
Celera12121,292,596 - 121,292,940RGD
HuRef12118,664,423 - 118,664,767UniSTS
PG4S0304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,659,605 - 121,660,146UniSTSGRCh37
Build 3612120,143,988 - 120,144,529RGDNCBI36
Celera12121,297,357 - 121,297,898RGD
HuRef12118,669,200 - 118,669,741UniSTS
PG4S05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,660,630 - 121,660,948UniSTSGRCh37
Build 3612120,145,013 - 120,145,331RGDNCBI36
Celera12121,298,384 - 121,298,702RGD
HuRef12118,670,225 - 118,670,543UniSTS
PG4S06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,666,273 - 121,666,574UniSTSGRCh37
Build 3612120,150,656 - 120,150,957RGDNCBI36
Celera12121,304,026 - 121,304,327RGD
HuRef12118,675,871 - 118,676,172UniSTS
PG4S0910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,670,116 - 121,670,576UniSTSGRCh37
Build 3612120,154,499 - 120,154,959RGDNCBI36
Celera12121,307,871 - 121,308,331RGD
Cytogenetic Map12q24.32UniSTS
HuRef12118,679,719 - 118,680,179UniSTS
PG4S1112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,670,554 - 121,671,249UniSTSGRCh37
Build 3612120,154,937 - 120,155,632RGDNCBI36
Celera12121,308,309 - 121,309,004RGD
HuRef12118,680,157 - 118,680,852UniSTS
PG4S12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,671,230 - 121,671,637UniSTSGRCh37
Build 3612120,155,613 - 120,156,020RGDNCBI36
Celera12121,308,985 - 121,309,392RGD
Cytogenetic Map12q24.32UniSTS
HuRef12118,680,833 - 118,681,240UniSTS
PG4S3UT01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,671,508 - 121,672,026UniSTSGRCh37
Build 3612120,155,891 - 120,156,409RGDNCBI36
Celera12121,309,263 - 121,309,781RGD
HuRef12118,681,111 - 118,681,629UniSTS
PG4S5UT0106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,646,883 - 121,647,753UniSTSGRCh37
Build 3612120,131,266 - 120,132,136RGDNCBI36
Celera12121,284,653 - 121,285,509RGD
HuRef12118,656,465 - 118,657,335UniSTS
PG4S5UT05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,645,788 - 121,646,803UniSTSGRCh37
Build 3612120,130,171 - 120,131,186RGDNCBI36
Celera12121,283,558 - 121,284,573RGD
HuRef12118,655,370 - 118,656,385UniSTS
PG4S5UT0901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,647,375 - 121,648,226UniSTSGRCh37
Build 3612120,131,758 - 120,132,609RGDNCBI36
HuRef12118,656,957 - 118,657,808UniSTS
P2RX4_7848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,671,450 - 121,671,985UniSTSGRCh37
Build 3612120,155,833 - 120,156,368RGDNCBI36
Celera12121,309,205 - 121,309,740RGD
HuRef12118,681,053 - 118,681,588UniSTS
STS-Y07684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,671,382 - 121,671,518UniSTSGRCh37
Build 3612120,155,765 - 120,155,901RGDNCBI36
Celera12121,309,137 - 121,309,273RGD
Cytogenetic Map12q24.32UniSTS
HuRef12118,680,985 - 118,681,121UniSTS
GeneMap99-GB4 RH Map12469.23UniSTS
A009Q17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,221,343 - 33,221,490UniSTSGRCh37
GRCh3712121,665,569 - 121,666,037UniSTSGRCh37
Build 3612120,149,952 - 120,150,420RGDNCBI36
Celera12121,303,323 - 121,303,791RGD
Celera2217,023,613 - 17,023,760UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map12q24.32UniSTS
HuRef2216,179,302 - 16,179,449UniSTS
HuRef12118,675,167 - 118,675,635UniSTS
GeneMap99-GB4 RH Map2294.86UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2196 1980 1363 322 1379 174 2569 786 1595 234 1278 1398 150 1096 1682 5
Low 241 1011 363 302 571 291 1782 1402 2139 185 182 214 24 1 108 1102 1 2
Below cutoff 2 1 5 9 1 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC069209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF191093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX402887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ851491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF807485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX471561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,212,866 - 121,223,043 (+)Ensembl
RefSeq Acc Id: ENST00000337233   ⟹   ENSP00000336607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,129 - 121,234,106 (+)Ensembl
RefSeq Acc Id: ENST00000359949   ⟹   ENSP00000353032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,065 - 121,234,070 (+)Ensembl
RefSeq Acc Id: ENST00000397924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,222,332 - 121,228,811 (+)Ensembl
RefSeq Acc Id: ENST00000499638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,129 - 121,234,104 (+)Ensembl
RefSeq Acc Id: ENST00000538417   ⟹   ENSP00000437396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,235 - 121,232,508 (+)Ensembl
RefSeq Acc Id: ENST00000538701   ⟹   ENSP00000444033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,151 - 121,229,042 (+)Ensembl
RefSeq Acc Id: ENST00000540930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,129 - 121,228,614 (+)Ensembl
RefSeq Acc Id: ENST00000541187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,171 - 121,232,507 (+)Ensembl
RefSeq Acc Id: ENST00000542067   ⟹   ENSP00000438329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,165 - 121,233,547 (+)Ensembl
RefSeq Acc Id: ENST00000543171   ⟹   ENSP00000438131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,209,861 - 121,234,104 (+)Ensembl
RefSeq Acc Id: ENST00000543318   ⟹   ENSP00000444274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,129 - 121,233,737 (+)Ensembl
RefSeq Acc Id: ENST00000543430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,117 - 121,233,547 (+)Ensembl
RefSeq Acc Id: ENST00000543984   ⟹   ENSP00000439386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12121,210,129 - 121,234,106 (+)Ensembl
RefSeq Acc Id: NM_001256796   ⟹   NP_001243725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBI
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001261397   ⟹   NP_001248326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBI
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001261398   ⟹   NP_001248327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBI
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002560   ⟹   NP_002551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)ENTREZGENE
Build 3612120,132,047 - 120,156,292 (+)NCBI Archive
HuRef12118,657,246 - 118,681,512 (+)ENTREZGENE
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046372
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBI
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046373
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
GRCh3712121,647,664 - 121,671,909 (+)NCBI
HuRef12118,657,246 - 118,681,512 (+)NCBI
CHM1_112121,616,508 - 121,640,746 (+)NCBI
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538416   ⟹   XP_011536718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,234,106 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428910   ⟹   XP_047284866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,232,504 (+)NCBI
RefSeq Acc Id: XM_047428911   ⟹   XP_047284867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,228,816 (+)NCBI
RefSeq Acc Id: XM_054372137   ⟹   XP_054228112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012121,200,899 - 121,223,270 (+)NCBI
RefSeq Acc Id: XM_054372138   ⟹   XP_054228113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012121,200,899 - 121,224,872 (+)NCBI
RefSeq Acc Id: XM_054372139   ⟹   XP_054228114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012121,200,899 - 121,219,582 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001243725 (Get FASTA)   NCBI Sequence Viewer  
  NP_001248326 (Get FASTA)   NCBI Sequence Viewer  
  NP_001248327 (Get FASTA)   NCBI Sequence Viewer  
  NP_002551 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536718 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284866 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228114 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58405 (Get FASTA)   NCBI Sequence Viewer  
  AAB66834 (Get FASTA)   NCBI Sequence Viewer  
  AAD00553 (Get FASTA)   NCBI Sequence Viewer  
  AAD00556 (Get FASTA)   NCBI Sequence Viewer  
  AAF06661 (Get FASTA)   NCBI Sequence Viewer  
  AAH33826 (Get FASTA)   NCBI Sequence Viewer  
  AAV38543 (Get FASTA)   NCBI Sequence Viewer  
  AAV38544 (Get FASTA)   NCBI Sequence Viewer  
  ABI31772 (Get FASTA)   NCBI Sequence Viewer  
  AEC23355 (Get FASTA)   NCBI Sequence Viewer  
  AFU91506 (Get FASTA)   NCBI Sequence Viewer  
  BAH11544 (Get FASTA)   NCBI Sequence Viewer  
  BAH11561 (Get FASTA)   NCBI Sequence Viewer  
  BAH12651 (Get FASTA)   NCBI Sequence Viewer  
  BAH13404 (Get FASTA)   NCBI Sequence Viewer  
  CAA68948 (Get FASTA)   NCBI Sequence Viewer  
  EAW98242 (Get FASTA)   NCBI Sequence Viewer  
  EAW98243 (Get FASTA)   NCBI Sequence Viewer  
  EAW98244 (Get FASTA)   NCBI Sequence Viewer  
  EAW98245 (Get FASTA)   NCBI Sequence Viewer  
  EAW98246 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000336607
  ENSP00000336607.4
  ENSP00000353032
  ENSP00000353032.7
  ENSP00000437396.1
  ENSP00000438329
  ENSP00000438329.1
  ENSP00000439386.1
  ENSP00000444033.1
  ENSP00000444274.1
GenBank Protein Q99571 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002551   ⟸   NM_002560
- Peptide Label: isoform 2
- UniProtKB: Q8N4N1 (UniProtKB/Swiss-Prot),   Q5U090 (UniProtKB/Swiss-Prot),   Q5U089 (UniProtKB/Swiss-Prot),   O14722 (UniProtKB/Swiss-Prot),   F6RU17 (UniProtKB/Swiss-Prot),   O00450 (UniProtKB/Swiss-Prot),   E7EPF7 (UniProtKB/Swiss-Prot),   Q9UBG9 (UniProtKB/Swiss-Prot),   Q99571 (UniProtKB/Swiss-Prot),   B7Z6W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243725   ⟸   NM_001256796
- Peptide Label: isoform 1
- UniProtKB: B7Z6W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001248327   ⟸   NM_001261398
- Peptide Label: isoform 4
- UniProtKB: B7Z6W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001248326   ⟸   NM_001261397
- Peptide Label: isoform 3
- UniProtKB: B7Z6W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536718   ⟸   XM_011538416
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000353032   ⟸   ENST00000359949
RefSeq Acc Id: ENSP00000438329   ⟸   ENST00000542067
RefSeq Acc Id: ENSP00000439386   ⟸   ENST00000543984
RefSeq Acc Id: ENSP00000438131   ⟸   ENST00000543171
RefSeq Acc Id: ENSP00000444274   ⟸   ENST00000543318
RefSeq Acc Id: ENSP00000336607   ⟸   ENST00000337233
RefSeq Acc Id: ENSP00000437396   ⟸   ENST00000538417
RefSeq Acc Id: ENSP00000444033   ⟸   ENST00000538701
RefSeq Acc Id: XP_047284866   ⟸   XM_047428910
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284867   ⟸   XM_047428911
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054228113   ⟸   XM_054372138
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054228112   ⟸   XM_054372137
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228114   ⟸   XM_054372139
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99571-F1-model_v2 AlphaFold Q99571 1-388 view protein structure

Promoters
RGD ID:6789944
Promoter ID:HG_KWN:16855
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359949,   NM_002560,   UC001TZS.1,   UC009ZXB.1,   UC009ZXC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612120,132,156 - 120,132,656 (+)MPROMDB
RGD ID:7225647
Promoter ID:EPDNEW_H18569
Type:initiation region
Name:P2RX4_1
Description:purinergic receptor P2X 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,210,129 - 121,210,189EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8535 AgrOrtholog
COSMIC P2RX4 COSMIC
Ensembl Genes ENSG00000135124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337233 ENTREZGENE
  ENST00000337233.9 UniProtKB/Swiss-Prot
  ENST00000359949 ENTREZGENE
  ENST00000359949.11 UniProtKB/Swiss-Prot
  ENST00000538417.2 UniProtKB/TrEMBL
  ENST00000538701.5 UniProtKB/TrEMBL
  ENST00000542067 ENTREZGENE
  ENST00000542067.5 UniProtKB/Swiss-Prot
  ENST00000543318.5 UniProtKB/TrEMBL
  ENST00000543984 ENTREZGENE
  ENST00000543984.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.490.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  atp-gated p2x4 ion channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135124 GTEx
HGNC ID HGNC:8535 ENTREZGENE
Human Proteome Map P2RX4 Human Proteome Map
InterPro P2X4_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_extracellular_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5025 UniProtKB/Swiss-Prot
NCBI Gene 5025 ENTREZGENE
OMIM 600846 OMIM
PANTHER P2X PURINOCEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X PURINOCEPTOR 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P2X_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32864 PharmGKB
PIRSF P2X_purinoceptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS P2X4RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2XRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P2X_RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z4R5_HUMAN UniProtKB/TrEMBL
  B7Z6W8 ENTREZGENE, UniProtKB/TrEMBL
  E7EPF7 ENTREZGENE
  F5GZQ9_HUMAN UniProtKB/TrEMBL
  F5H1M6_HUMAN UniProtKB/TrEMBL
  F5H2S3_HUMAN UniProtKB/TrEMBL
  F6RU17 ENTREZGENE
  H0YF70_HUMAN UniProtKB/TrEMBL
  K4KBD6_HUMAN UniProtKB/TrEMBL
  O00450 ENTREZGENE
  O14722 ENTREZGENE
  P2RX4_HUMAN UniProtKB/Swiss-Prot
  Q5U089 ENTREZGENE
  Q5U090 ENTREZGENE
  Q8N4N1 ENTREZGENE
  Q99571 ENTREZGENE
  Q9UBG9 ENTREZGENE
UniProt Secondary E7EPF7 UniProtKB/Swiss-Prot
  F6RU17 UniProtKB/Swiss-Prot
  O00450 UniProtKB/Swiss-Prot
  O14722 UniProtKB/Swiss-Prot
  Q5U089 UniProtKB/Swiss-Prot
  Q5U090 UniProtKB/Swiss-Prot
  Q8N4N1 UniProtKB/Swiss-Prot
  Q9UBG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 P2RX4  purinergic receptor P2X 4    purinergic receptor P2X, ligand gated ion channel, 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 P2RX4  purinergic receptor P2X, ligand gated ion channel, 4    purinergic receptor P2X, ligand-gated ion channel, 4  Symbol and/or name change 5135510 APPROVED