P2RX5 (purinergic receptor P2X 5) - Rat Genome Database

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Gene: P2RX5 (purinergic receptor P2X 5) Homo sapiens
Analyze
Symbol: P2RX5
Name: purinergic receptor P2X 5
RGD ID: 737418
HGNC Page HGNC:8536
Description: Predicted to enable extracellularly ATP-gated monoatomic cation channel activity. Predicted to be involved in calcium ion transmembrane transport. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP receptor subunit; ionotropic ATP receptor P2X5; LRH-1; lymphoid-restricted histocompatibility antigen-1; MGC47755; P2X purinoceptor 5; P2X5; P2X5R; purinergic receptor P2X ligand gated ion channel 5; purinergic receptor P2X, ligand gated ion channel, 5; purinergic receptor P2X, ligand-gated ion channel, 5
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,673,227 - 3,696,155 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,672,199 - 3,696,240 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,576,521 - 3,599,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,523,270 - 3,546,332 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,523,272 - 3,546,332NCBI
Celera173,590,263 - 3,611,320 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,468,232 - 3,490,048 (-)NCBIHuRef
CHM1_1173,587,157 - 3,608,787 (-)NCBICHM1_1
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)
postsynapse  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Sensitization by extracellular Ca(2+) of rat P2X(5) receptor and its pharmacological properties compared with rat P2X(1). Wildman SS, etal., Mol Pharmacol 2002 Oct;62(4):957-66.
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9414125   PMID:10673275   PMID:12270951   PMID:12477932   PMID:12665801   PMID:12787128   PMID:12880424   PMID:14702039   PMID:16322791   PMID:16967306  
PMID:17001079   PMID:17207965   PMID:17895406   PMID:18719914   PMID:18976975   PMID:19074734   PMID:20223879   PMID:20962269   PMID:21092862   PMID:21873635   PMID:22020285   PMID:24868547  
PMID:25080478   PMID:25181038   PMID:27107012   PMID:28514442   PMID:33961781   PMID:35696571  


Genomics

Comparative Map Data
P2RX5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,673,227 - 3,696,155 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,672,199 - 3,696,240 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,576,521 - 3,599,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,523,270 - 3,546,332 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,523,272 - 3,546,332NCBI
Celera173,590,263 - 3,611,320 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,468,232 - 3,490,048 (-)NCBIHuRef
CHM1_1173,587,157 - 3,608,787 (-)NCBICHM1_1
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBIT2T-CHM13v2.0
P2rx5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,029,164 - 73,063,509 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,051,247 - 73,063,511 (+)EnsemblGRCm39 Ensembl
GRCm381173,155,389 - 73,172,687 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,160,421 - 73,172,685 (+)EnsemblGRCm38mm10GRCm38
MGSCv371172,974,032 - 72,986,189 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,976,720 - 72,988,880 (+)NCBIMGSCv36mm8
Celera1180,697,612 - 80,709,777 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
P2rx5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,276,329 - 58,291,108 (+)NCBIGRCr8
mRatBN7.21057,777,737 - 57,789,426 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,777,819 - 57,789,423 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,433,638 - 62,445,218 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,922,089 - 61,933,678 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,421,249 - 57,432,831 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,725,438 - 59,737,126 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,725,398 - 59,737,126 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,464,489 - 59,476,098 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,036,074 - 60,047,683 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11060,049,703 - 60,061,303 (+)NCBI
Celera1056,901,047 - 56,912,634 (+)NCBICelera
Cytogenetic Map10q24NCBI
P2rx5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,126,116 - 13,139,768 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,125,710 - 13,140,031 (+)NCBIChiLan1.0ChiLan1.0
P2RX5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,281,816 - 11,307,884 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,247,323 - 13,273,351 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,722,117 - 3,745,833 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,720,232 - 3,735,656 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,719,457 - 3,739,709 (-)Ensemblpanpan1.1panPan2
P2RX5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,500,593 - 47,516,790 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,662,847 - 46,679,019 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,345,924 - 48,362,108 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,345,926 - 48,362,078 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,123,686 - 47,139,818 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,412,831 - 47,428,998 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,468,460 - 47,484,856 (-)NCBIUU_Cfam_GSD_1.0
P2rx5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,515,339 - 55,530,836 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677370,138 - 385,649 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677370,141 - 385,669 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P2RX5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,778,800 - 49,796,110 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,780,241 - 49,796,287 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,643,316 - 51,649,939 (-)NCBISscrofa10.2Sscrofa10.2susScr3
P2RX5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,173,215 - 3,198,262 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,180,595 - 3,196,341 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,597,921 - 18,612,118 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
P2rx5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,327,419 - 6,342,980 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,327,132 - 6,343,040 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in P2RX5
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
NM_001204519.1(P2RX5):c.1025G>C (p.Arg342Thr) single nucleotide variant Malignant melanoma [RCV000071439] Chr17:3681932 [GRCh38]
Chr17:3585226 [GRCh37]
Chr17:3531975 [NCBI36]
Chr17:17p13.2
not provided
NM_001204519.1(P2RX5):c.603C>T (p.Phe201=) single nucleotide variant Malignant melanoma [RCV000071443] Chr17:3690081 [GRCh38]
Chr17:3593375 [GRCh37]
Chr17:3540124 [NCBI36]
Chr17:17p13.2
not provided
NM_001204519.1(P2RX5):c.14G>A (p.Gly5Asp) single nucleotide variant Malignant melanoma [RCV000071445] Chr17:3695992 [GRCh38]
Chr17:3599286 [GRCh37]
Chr17:3546035 [NCBI36]
Chr17:17p13.2
not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 copy number loss See cases [RCV000139722] Chr17:3494418..3727880 [GRCh38]
Chr17:3397712..3631174 [GRCh37]
Chr17:3344462..3577923 [NCBI36]
Chr17:17p13.2
uncertain significance|conflicting data from submitters
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 copy number loss See cases [RCV000142613] Chr17:3543809..3711347 [GRCh38]
Chr17:3447103..3614641 [GRCh37]
Chr17:3393853..3561390 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2
likely benign|uncertain significance
Single allele deletion Normal pregnancy [RCV000161800] Chr17:3602749..3678945 [GRCh38]
Chr17:3506043..3582239 [GRCh37]
Chr17:17p13.2
not provided
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3 copy number gain See cases [RCV000239943] Chr17:3392623..3663528 [GRCh37]
Chr17:17p13.2
uncertain significance
Single allele deletion TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy [RCV000735209] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.2(chr17:3552153-3719502)x3 copy number gain See cases [RCV000447740] Chr17:3552153..3719502 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.333del (p.Asn112fs) deletion not specified [RCV000455819] Chr17:3690983 [GRCh38]
Chr17:3594277 [GRCh37]
Chr17:17p13.2
benign
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss See cases [RCV000511267] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain See cases [RCV000512393] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
NM_002561.4(P2RX5):c.904C>T (p.Arg302Ter) single nucleotide variant not provided [RCV000714752] Chr17:3688089 [GRCh38]
Chr17:3591383 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.11:g.(?_3489235)_(3729555_?)del deletion Spongy degeneration of central nervous system [RCV000707830]|not provided [RCV001861925] Chr17:3489235..3729555 [GRCh38]
Chr17:3392529..3632849 [GRCh37]
Chr17:17p13.2
pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_002561.4(P2RX5):c.400G>A (p.Asp134Asn) single nucleotide variant Inborn genetic diseases [RCV003244959] Chr17:3690641 [GRCh38]
Chr17:3593935 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1 copy number loss not provided [RCV000848897] Chr17:3405774..3640694 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain not provided [RCV001249276] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2
not provided
GRCh37/hg19 17p13.2(chr17:3394299-3632836) copy number loss Primary familial dilated cardiomyopathy [RCV001195115] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss not provided [RCV001006860] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002561.4(P2RX5):c.1259+6G>A single nucleotide variant not provided [RCV001648103] Chr17:3679584 [GRCh38]
Chr17:3582878 [GRCh37]
Chr17:17p13.2
benign|likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3 copy number gain not provided [RCV001834365] Chr17:2646815..3698838 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NM_002561.4(P2RX5):c.562T>G (p.Phe188Val) single nucleotide variant Inborn genetic diseases [RCV003276932] Chr17:3690122 [GRCh38]
Chr17:3593416 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NC_000017.10:g.(?_3379454)_(3819519_?)del deletion Spongy degeneration of central nervous system [RCV003119152] Chr17:3379454..3819519 [GRCh37]
Chr17:17p13.2
pathogenic
NM_002561.4(P2RX5):c.704G>T (p.Gly235Val) single nucleotide variant Inborn genetic diseases [RCV002771719] Chr17:3689541 [GRCh38]
Chr17:3592835 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.1102G>A (p.Ala368Thr) single nucleotide variant Inborn genetic diseases [RCV002752978] Chr17:3679747 [GRCh38]
Chr17:3583041 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1 copy number loss not provided [RCV002475719] Chr17:3392984..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.478A>G (p.Arg160Gly) single nucleotide variant Inborn genetic diseases [RCV002859671] Chr17:3690482 [GRCh38]
Chr17:3593776 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.589C>T (p.Arg197Cys) single nucleotide variant Inborn genetic diseases [RCV002684962] Chr17:3690095 [GRCh38]
Chr17:3593389 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.976G>C (p.Gly326Arg) single nucleotide variant Inborn genetic diseases [RCV002945641] Chr17:3688017 [GRCh38]
Chr17:3591311 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.349G>A (p.Val117Ile) single nucleotide variant Inborn genetic diseases [RCV002970436] Chr17:3690967 [GRCh38]
Chr17:3594261 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.217G>A (p.Val73Met) single nucleotide variant Inborn genetic diseases [RCV002865133]|not provided [RCV003427616] Chr17:3691715 [GRCh38]
Chr17:3595009 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_002561.4(P2RX5):c.274G>A (p.Val92Ile) single nucleotide variant Inborn genetic diseases [RCV002870169] Chr17:3691658 [GRCh38]
Chr17:3594952 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.421G>A (p.Val141Ile) single nucleotide variant Inborn genetic diseases [RCV002845474] Chr17:3690620 [GRCh38]
Chr17:3593914 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.943G>A (p.Ala315Thr) single nucleotide variant Inborn genetic diseases [RCV002783849] Chr17:3688050 [GRCh38]
Chr17:3591344 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.340C>T (p.Arg114Trp) single nucleotide variant Inborn genetic diseases [RCV003001303] Chr17:3690976 [GRCh38]
Chr17:3594270 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.910G>A (p.Ala304Thr) single nucleotide variant Inborn genetic diseases [RCV002854486] Chr17:3688083 [GRCh38]
Chr17:3591377 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.452G>A (p.Arg151His) single nucleotide variant Inborn genetic diseases [RCV002803505] Chr17:3690508 [GRCh38]
Chr17:3593802 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.382G>A (p.Ala128Thr) single nucleotide variant Inborn genetic diseases [RCV002956239] Chr17:3690659 [GRCh38]
Chr17:3593953 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.841C>G (p.Leu281Val) single nucleotide variant Inborn genetic diseases [RCV002855271] Chr17:3688672 [GRCh38]
Chr17:3591966 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.295A>T (p.Asn99Tyr) single nucleotide variant Inborn genetic diseases [RCV002813695] Chr17:3691021 [GRCh38]
Chr17:3594315 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.1057G>A (p.Glu353Lys) single nucleotide variant Inborn genetic diseases [RCV002964041] Chr17:3681903 [GRCh38]
Chr17:3585197 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.175G>T (p.Asp59Tyr) single nucleotide variant Inborn genetic diseases [RCV002672400] Chr17:3691757 [GRCh38]
Chr17:3595051 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.1054G>A (p.Glu352Lys) single nucleotide variant Inborn genetic diseases [RCV002959394] Chr17:3681906 [GRCh38]
Chr17:3585200 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.284C>T (p.Ala95Val) single nucleotide variant Inborn genetic diseases [RCV002835672] Chr17:3691648 [GRCh38]
Chr17:3594942 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.298G>T (p.Val100Phe) single nucleotide variant Inborn genetic diseases [RCV002722211] Chr17:3691018 [GRCh38]
Chr17:3594312 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.999C>A (p.Asp333Glu) single nucleotide variant Inborn genetic diseases [RCV003279450] Chr17:3681961 [GRCh38]
Chr17:3585255 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.1039C>T (p.Arg347Cys) single nucleotide variant Inborn genetic diseases [RCV003197643] Chr17:3681921 [GRCh38]
Chr17:3585215 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.710T>G (p.Val237Gly) single nucleotide variant Inborn genetic diseases [RCV003199772] Chr17:3689535 [GRCh38]
Chr17:3592829 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.532G>C (p.Glu178Gln) single nucleotide variant Inborn genetic diseases [RCV003207566] Chr17:3690428 [GRCh38]
Chr17:3593722 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.517A>T (p.Thr173Ser) single nucleotide variant Inborn genetic diseases [RCV003197803] Chr17:3690443 [GRCh38]
Chr17:3593737 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_002561.4(P2RX5):c.949G>A (p.Gly317Arg) single nucleotide variant Inborn genetic diseases [RCV003375848] Chr17:3688044 [GRCh38]
Chr17:3591338 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002561.4(P2RX5):c.42C>A (p.Phe14Leu) single nucleotide variant Inborn genetic diseases [RCV003376793] Chr17:3695964 [GRCh38]
Chr17:3599258 [GRCh37]
Chr17:17p13.2
uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002561.4(P2RX5):c.1194G>A (p.Ala398=) single nucleotide variant not provided [RCV003413082] Chr17:3679655 [GRCh38]
Chr17:3582949 [GRCh37]
Chr17:17p13.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3738
Count of miRNA genes:941
Interacting mature miRNAs:1151
Transcripts:ENST00000225328, ENST00000345901, ENST00000435558, ENST00000547178, ENST00000547933, ENST00000549063, ENST00000550772, ENST00000551178, ENST00000552050, ENST00000552276, ENST00000552456, ENST00000552723
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
SHGC-24369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,576,619 - 3,576,718UniSTSGRCh37
Build 36173,523,368 - 3,523,467RGDNCBI36
Celera173,590,361 - 3,590,460RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,468,330 - 3,468,429UniSTS
TNG Radiation Hybrid Map171813.0UniSTS
GeneMap99-G3 RH Map17242.0UniSTS
SHGC-58334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,579,569 - 3,579,676UniSTSGRCh37
Build 36173,526,318 - 3,526,425RGDNCBI36
Celera173,593,311 - 3,593,418RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,471,280 - 3,471,387UniSTS
TNG Radiation Hybrid Map171813.0UniSTS
SGC31971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,576,565 - 3,576,667UniSTSGRCh37
Build 36173,523,314 - 3,523,416RGDNCBI36
Celera173,590,307 - 3,590,409RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,468,276 - 3,468,378UniSTS
Whitehead-RH Map1741.1UniSTS
STS-T52483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,576,595 - 3,576,789UniSTSGRCh37
Build 36173,523,344 - 3,523,538RGDNCBI36
Celera173,590,337 - 3,590,531RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,468,306 - 3,468,500UniSTS
GeneMap99-GB4 RH Map1735.11UniSTS
WI-20223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,576,605 - 3,576,899UniSTSGRCh37
Build 36173,523,354 - 3,523,648RGDNCBI36
Celera173,590,347 - 3,590,641RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,468,316 - 3,468,610UniSTS
Whitehead-RH Map1741.4UniSTS
NCBI RH Map1754.6UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 185 527 50 3 1362 3 451 516 681 4 20 83 15 446
Low 1306 1534 1049 400 564 255 1606 1024 2774 159 1091 1175 157 683 1025 1 2
Below cutoff 923 922 598 205 19 190 2285 651 265 189 331 327 16 506 1313 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001204519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_178078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_178079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA805176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF168787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM477082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ234349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ851492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000225328   ⟹   ENSP00000225328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,227 - 3,696,155 (-)Ensembl
RefSeq Acc Id: ENST00000345901   ⟹   ENSP00000342161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,245 - 3,696,216 (-)Ensembl
RefSeq Acc Id: ENST00000547178   ⟹   ENSP00000448355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,227 - 3,696,096 (-)Ensembl
RefSeq Acc Id: ENST00000547933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,690,084 - 3,696,240 (-)Ensembl
RefSeq Acc Id: ENST00000549063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,230 - 3,682,871 (-)Ensembl
RefSeq Acc Id: ENST00000550772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,685,520 - 3,690,649 (-)Ensembl
RefSeq Acc Id: ENST00000551178   ⟹   ENSP00000447545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,227 - 3,696,033 (-)Ensembl
RefSeq Acc Id: ENST00000552050   ⟹   ENSP00000450006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,600 - 3,692,002 (-)Ensembl
RefSeq Acc Id: ENST00000552276   ⟹   ENSP00000467707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,672,199 - 3,696,096 (-)Ensembl
RefSeq Acc Id: ENST00000552456   ⟹   ENSP00000447815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,251 - 3,688,040 (-)Ensembl
RefSeq Acc Id: ENST00000552723   ⟹   ENSP00000449495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,679,611 - 3,691,773 (-)Ensembl
RefSeq Acc Id: ENST00000697413   ⟹   ENSP00000513301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,673,227 - 3,696,155 (-)Ensembl
RefSeq Acc Id: NM_001204519   ⟹   NP_001191448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,673,227 - 3,696,155 (-)NCBI
GRCh37173,575,156 - 3,599,698 (-)NCBI
HuRef173,468,232 - 3,490,048 (-)ENTREZGENE
CHM1_1173,587,157 - 3,608,787 (-)NCBI
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204520   ⟹   NP_001191449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,673,227 - 3,696,155 (-)NCBI
GRCh37173,575,156 - 3,599,698 (-)NCBI
HuRef173,468,232 - 3,490,048 (-)ENTREZGENE
CHM1_1173,587,157 - 3,608,787 (-)NCBI
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002561   ⟹   NP_002552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,673,227 - 3,696,155 (-)NCBI
GRCh37173,575,156 - 3,599,698 (-)NCBI
Build 36173,523,270 - 3,546,332 (-)NCBI Archive
HuRef173,468,232 - 3,490,048 (-)ENTREZGENE
CHM1_1173,587,157 - 3,608,787 (-)NCBI
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175080   ⟹   NP_778255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,673,227 - 3,696,155 (-)NCBI
GRCh37173,575,156 - 3,599,698 (-)NCBI
Build 36173,523,270 - 3,546,332 (-)NCBI Archive
HuRef173,468,232 - 3,490,048 (-)ENTREZGENE
CHM1_1173,587,157 - 3,608,787 (-)NCBI
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
Sequence:
RefSeq Acc Id: NR_178078
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
RefSeq Acc Id: NR_178079
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,562,283 - 3,584,749 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001191448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412011 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412012 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412013 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412014 (Get FASTA)   NCBI Sequence Viewer  
  NP_002552 (Get FASTA)   NCBI Sequence Viewer  
  NP_778255 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB08576 (Get FASTA)   NCBI Sequence Viewer  
  AAB08577 (Get FASTA)   NCBI Sequence Viewer  
  AAC28645 (Get FASTA)   NCBI Sequence Viewer  
  AAC51931 (Get FASTA)   NCBI Sequence Viewer  
  AAF43105 (Get FASTA)   NCBI Sequence Viewer  
  AAF43106 (Get FASTA)   NCBI Sequence Viewer  
  AAH39015 (Get FASTA)   NCBI Sequence Viewer  
  ABB29978 (Get FASTA)   NCBI Sequence Viewer  
  ABI31773 (Get FASTA)   NCBI Sequence Viewer  
  BAF83578 (Get FASTA)   NCBI Sequence Viewer  
  BAG57073 (Get FASTA)   NCBI Sequence Viewer  
  EAW90482 (Get FASTA)   NCBI Sequence Viewer  
  EAW90483 (Get FASTA)   NCBI Sequence Viewer  
  EAW90484 (Get FASTA)   NCBI Sequence Viewer  
  EAW90485 (Get FASTA)   NCBI Sequence Viewer  
  EAW90486 (Get FASTA)   NCBI Sequence Viewer  
  EAW90487 (Get FASTA)   NCBI Sequence Viewer  
  EAW90488 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000225328
  ENSP00000225328.5
  ENSP00000342161
  ENSP00000342161.3
  ENSP00000447545
  ENSP00000447545.1
  ENSP00000447815.1
  ENSP00000448355
  ENSP00000448355.1
  ENSP00000449495.1
  ENSP00000450006.1
  ENSP00000467707.1
  ENSP00000513301.1
GenBank Protein Q93086 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_778255   ⟸   NM_175080
- Peptide Label: isoform B
- UniProtKB: K7EQ78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191449   ⟸   NM_001204520
- Peptide Label: isoform E
- UniProtKB: K7EQ78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191448   ⟸   NM_001204519
- Peptide Label: isoform D
- UniProtKB: K7EQ78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002552   ⟸   NM_002561
- Peptide Label: isoform A
- UniProtKB: Q93087 (UniProtKB/Swiss-Prot),   Q8IXW4 (UniProtKB/Swiss-Prot),   Q59F38 (UniProtKB/Swiss-Prot),   Q308M5 (UniProtKB/Swiss-Prot),   O75540 (UniProtKB/Swiss-Prot),   O43450 (UniProtKB/Swiss-Prot),   G5E981 (UniProtKB/Swiss-Prot),   Q9NZV0 (UniProtKB/Swiss-Prot),   Q93086 (UniProtKB/Swiss-Prot),   K7EQ78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000342161   ⟸   ENST00000345901
RefSeq Acc Id: ENSP00000448355   ⟸   ENST00000547178
RefSeq Acc Id: ENSP00000447545   ⟸   ENST00000551178
RefSeq Acc Id: ENSP00000450006   ⟸   ENST00000552050
RefSeq Acc Id: ENSP00000447815   ⟸   ENST00000552456
RefSeq Acc Id: ENSP00000467707   ⟸   ENST00000552276
RefSeq Acc Id: ENSP00000449495   ⟸   ENST00000552723
RefSeq Acc Id: ENSP00000225328   ⟸   ENST00000225328
RefSeq Acc Id: ENSP00000513301   ⟸   ENST00000697413

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q93086-F1-model_v2 AlphaFold Q93086 1-422 view protein structure

Promoters
RGD ID:6794402
Promoter ID:HG_KWN:24704
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000381833,   NM_175080,   NM_175081,   OTTHUMT00000207388,   UC002FWD.1,   UC002FWH.1,   UC002FWK.1,   UC002FWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,545,816 - 3,546,316 (-)MPROMDB
RGD ID:7233369
Promoter ID:EPDNEW_H22430
Type:initiation region
Name:P2RX5_4
Description:purinergic receptor P2X 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22431  EPDNEW_H22433  EPDNEW_H22432  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,688,044 - 3,688,104EPDNEW
RGD ID:7233371
Promoter ID:EPDNEW_H22431
Type:initiation region
Name:P2RX5_1
Description:purinergic receptor P2X 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22430  EPDNEW_H22433  EPDNEW_H22432  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,696,111 - 3,696,171EPDNEW
RGD ID:7233375
Promoter ID:EPDNEW_H22432
Type:initiation region
Name:P2RX5_3
Description:purinergic receptor P2X 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22430  EPDNEW_H22431  EPDNEW_H22433  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,696,253 - 3,696,313EPDNEW
RGD ID:7233373
Promoter ID:EPDNEW_H22433
Type:initiation region
Name:P2RX5_2
Description:purinergic receptor P2X 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22430  EPDNEW_H22431  EPDNEW_H22432  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,696,410 - 3,696,470EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8536 AgrOrtholog
COSMIC P2RX5 COSMIC
Ensembl Genes ENSG00000083454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225328 ENTREZGENE
  ENST00000225328.10 UniProtKB/Swiss-Prot
  ENST00000345901 ENTREZGENE
  ENST00000345901.7 UniProtKB/Swiss-Prot
  ENST00000547178 ENTREZGENE
  ENST00000547178.5 UniProtKB/Swiss-Prot
  ENST00000551178 ENTREZGENE
  ENST00000551178.5 UniProtKB/Swiss-Prot
  ENST00000552050.5 UniProtKB/TrEMBL
  ENST00000552276.5 UniProtKB/TrEMBL
  ENST00000552456.1 UniProtKB/TrEMBL
  ENST00000552723.1 UniProtKB/TrEMBL
  ENST00000697413.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.490.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  atp-gated p2x4 ion channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083454 GTEx
HGNC ID HGNC:8536 ENTREZGENE
Human Proteome Map P2RX5 Human Proteome Map
InterPro P2X5_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:5026 UniProtKB/Swiss-Prot
NCBI Gene 5026 ENTREZGENE
OMIM 602836 OMIM
PANTHER P2X PURINOCEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10125:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P2X_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32865 PharmGKB
PIRSF P2X_purinoceptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS P2X5RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2XRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P2X_RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TLD3_HUMAN UniProtKB/TrEMBL
  B4DEG2_HUMAN UniProtKB/TrEMBL
  G5E981 ENTREZGENE
  H0YHT9_HUMAN UniProtKB/TrEMBL
  H0YII8_HUMAN UniProtKB/TrEMBL
  K7EQ78 ENTREZGENE, UniProtKB/TrEMBL
  O43450 ENTREZGENE
  O75540 ENTREZGENE
  P2RX5_HUMAN UniProtKB/Swiss-Prot
  Q308M5 ENTREZGENE
  Q59F38 ENTREZGENE
  Q8IXW4 ENTREZGENE
  Q93086 ENTREZGENE
  Q93087 ENTREZGENE
  Q9NZV0 ENTREZGENE
UniProt Secondary G5E981 UniProtKB/Swiss-Prot
  O43450 UniProtKB/Swiss-Prot
  O75540 UniProtKB/Swiss-Prot
  Q308M5 UniProtKB/Swiss-Prot
  Q59F38 UniProtKB/Swiss-Prot
  Q8IXW4 UniProtKB/Swiss-Prot
  Q93087 UniProtKB/Swiss-Prot
  Q9NZV0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 P2RX5  purinergic receptor P2X 5    purinergic receptor P2X, ligand gated ion channel, 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 P2RX5  purinergic receptor P2X, ligand gated ion channel, 5    purinergic receptor P2X, ligand-gated ion channel, 5  Symbol and/or name change 5135510 APPROVED