PANX3 (pannexin 3) - Rat Genome Database

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Gene: PANX3 (pannexin 3) Homo sapiens
Analyze
Symbol: PANX3
Name: pannexin 3
RGD ID: 1351582
HGNC Page HGNC:20573
Description: Predicted to enable calcium channel activity; gap junction hemi-channel activity; and structural molecule activity. Predicted to be involved in cell-cell signaling; monoatomic cation transport; and osteoblast differentiation. Predicted to be located in endoplasmic reticulum membrane and gap junction. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: gap junction protein pannexin 3; pannexin-3; PX3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811124,611,428 - 124,620,356 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,611,428 - 124,620,356 (+)EnsemblGRCh38hg38GRCh38
GRCh3711124,481,324 - 124,490,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,986,663 - 123,995,462 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411123,986,662 - 123,995,459NCBI
Celera11121,641,631 - 121,650,429 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,423,913 - 120,432,711 (+)NCBIHuRef
CHM1_111124,367,559 - 124,376,376 (+)NCBICHM1_1
T2T-CHM13v2.011124,640,092 - 124,649,020 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
Additional References at PubMed
PMID:14597722   PMID:15028292   PMID:16147992   PMID:17925379   PMID:20086016   PMID:20404334   PMID:21873635   PMID:22947051   PMID:25008946   PMID:25239622   PMID:26223428   PMID:26263540  
PMID:27391460   PMID:27518505   PMID:27679980   PMID:29222846   PMID:29229926   PMID:29241211   PMID:29357945   PMID:36448979  


Genomics

Comparative Map Data
PANX3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811124,611,428 - 124,620,356 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,611,428 - 124,620,356 (+)EnsemblGRCh38hg38GRCh38
GRCh3711124,481,324 - 124,490,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,986,663 - 123,995,462 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411123,986,662 - 123,995,459NCBI
Celera11121,641,631 - 121,650,429 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,423,913 - 120,432,711 (+)NCBIHuRef
CHM1_111124,367,559 - 124,376,376 (+)NCBICHM1_1
T2T-CHM13v2.011124,640,092 - 124,649,020 (+)NCBIT2T-CHM13v2.0
Panx3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39937,571,198 - 37,580,518 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl937,571,198 - 37,580,531 (-)EnsemblGRCm39 Ensembl
GRCm38937,659,902 - 37,669,222 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl937,659,902 - 37,669,235 (-)EnsemblGRCm38mm10GRCm38
MGSCv37937,467,487 - 37,476,807 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36937,409,573 - 37,418,893 (-)NCBIMGSCv36mm8
Celera934,876,995 - 34,886,243 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map920.79NCBI
Panx3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8845,554,474 - 45,566,378 (-)NCBIGRCr8
mRatBN7.2837,366,758 - 37,377,640 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl837,366,862 - 37,377,640 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx841,383,133 - 41,393,828 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0839,666,197 - 39,676,892 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0837,529,079 - 37,539,775 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0840,126,379 - 40,137,390 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl840,126,342 - 40,137,390 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0840,127,203 - 40,138,214 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4838,902,317 - 38,913,090 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1838,593,394 - 38,921,856 (-)NCBI
Celera837,077,755 - 37,088,527 (+)NCBICelera
Cytogenetic Map8q22NCBI
Panx3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541225,676,286 - 25,684,841 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541225,676,286 - 25,684,841 (+)NCBIChiLan1.0ChiLan1.0
PANX3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29125,307,247 - 125,319,314 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111126,412,210 - 126,423,820 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011119,438,866 - 119,452,174 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111123,354,919 - 123,363,463 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11123,354,919 - 123,363,463 (+)Ensemblpanpan1.1panPan2
PANX3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,787,513 - 9,794,292 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,787,947 - 9,794,166 (-)EnsemblCanFam3.1canFam3CanFam3.1
Panx3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947106,835,538 - 106,842,852 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367431,083,227 - 1,090,777 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367431,083,217 - 1,092,023 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PANX3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl951,853,949 - 51,861,331 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1951,854,148 - 51,860,330 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,372,024 - 57,378,298 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PANX3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11115,757,147 - 115,767,034 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1115,757,901 - 115,766,295 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604310,350,082 - 10,392,302 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Panx3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624927612,750 - 620,564 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624927612,686 - 621,282 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PANX3
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
NM_052959.2(PANX3):c.69C>T (p.Pro23=) single nucleotide variant Malignant melanoma [RCV000069232] Chr11:124611625 [GRCh38]
Chr11:124481521 [GRCh37]
Chr11:123986731 [NCBI36]
Chr11:11q24.2		 not provided
NM_052959.2(PANX3):c.70C>T (p.Arg24Cys) single nucleotide variant Malignant melanoma [RCV000069233] Chr11:124611626 [GRCh38]
Chr11:124481522 [GRCh37]
Chr11:123986732 [NCBI36]
Chr11:11q24.2		 not provided
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1 copy number loss See cases [RCV000138074] Chr11:124565941..125095785 [GRCh38]
Chr11:124435837..124965681 [GRCh37]
Chr11:123941047..124470891 [NCBI36]
Chr11:11q24.2		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 copy number gain See cases [RCV000141175] Chr11:123543649..124802201 [GRCh38]
Chr11:123414357..124672097 [GRCh37]
Chr11:122919567..124177307 [NCBI36]
Chr11:11q24.1-24.2		 uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_052959.3(PANX3):c.845T>C (p.Ile282Thr) single nucleotide variant not specified [RCV004327342] Chr11:124619601 [GRCh38]
Chr11:124489497 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.971A>G (p.Asn324Ser) single nucleotide variant not specified [RCV004329618] Chr11:124619727 [GRCh38]
Chr11:124489623 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124296334-124560100)x3 copy number gain not provided [RCV000683322] Chr11:124296334..124560100 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_052959.3(PANX3):c.493C>T (p.Arg165Trp) single nucleotide variant not provided [RCV001617822] Chr11:124617442 [GRCh38]
Chr11:124487338 [GRCh37]
Chr11:11q24.2		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
GRCh37/hg19 11q24.2(chr11:124296335-124560100)x3 copy number gain not provided [RCV001827776] Chr11:124296335..124560100 [GRCh37]
Chr11:11q24.2		 uncertain significance
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_052959.3(PANX3):c.951G>C (p.Lys317Asn) single nucleotide variant not specified [RCV004159240] Chr11:124619707 [GRCh38]
Chr11:124489603 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_052959.3(PANX3):c.436G>A (p.Glu146Lys) single nucleotide variant not specified [RCV004200500] Chr11:124617385 [GRCh38]
Chr11:124487281 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.388T>C (p.Tyr130His) single nucleotide variant not specified [RCV004191061] Chr11:124617337 [GRCh38]
Chr11:124487233 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.7C>A (p.Leu3Ile) single nucleotide variant not specified [RCV004185143] Chr11:124611563 [GRCh38]
Chr11:124481459 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.149T>A (p.Met50Lys) single nucleotide variant not specified [RCV004277942] Chr11:124611705 [GRCh38]
Chr11:124481601 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.611C>T (p.Ser204Leu) single nucleotide variant not specified [RCV004256715] Chr11:124619367 [GRCh38]
Chr11:124489263 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.121G>A (p.Val41Ile) single nucleotide variant not specified [RCV004261650] Chr11:124611677 [GRCh38]
Chr11:124481573 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.124G>C (p.Ala42Pro) single nucleotide variant not specified [RCV004353737] Chr11:124611680 [GRCh38]
Chr11:124481576 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.232G>T (p.Ala78Ser) single nucleotide variant not specified [RCV004346737] Chr11:124613030 [GRCh38]
Chr11:124482926 [GRCh37]
Chr11:11q24.2		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_052959.3(PANX3):c.1033T>C (p.Trp345Arg) single nucleotide variant not specified [RCV004500287] Chr11:124619789 [GRCh38]
Chr11:124489685 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.496C>A (p.Gln166Lys) single nucleotide variant not specified [RCV004500290] Chr11:124617445 [GRCh38]
Chr11:124487341 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.1021A>T (p.Ile341Phe) single nucleotide variant not specified [RCV004500286] Chr11:124619777 [GRCh38]
Chr11:124489673 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.403G>T (p.Ala135Ser) single nucleotide variant not specified [RCV004500289] Chr11:124617352 [GRCh38]
Chr11:124487248 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.182G>T (p.Gly61Val) single nucleotide variant not specified [RCV004500288] Chr11:124612980 [GRCh38]
Chr11:124482876 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.86G>A (p.Arg29His) single nucleotide variant not specified [RCV004500291] Chr11:124611642 [GRCh38]
Chr11:124481538 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.770A>G (p.Asn257Ser) single nucleotide variant not specified [RCV004664137] Chr11:124619526 [GRCh38]
Chr11:124489422 [GRCh37]
Chr11:11q24.2		 likely benign
NM_052959.3(PANX3):c.865T>C (p.Tyr289His) single nucleotide variant not specified [RCV004664138] Chr11:124619621 [GRCh38]
Chr11:124489517 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.844A>G (p.Ile282Val) single nucleotide variant not specified [RCV004650850] Chr11:124619600 [GRCh38]
Chr11:124489496 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.683G>A (p.Gly228Asp) single nucleotide variant not specified [RCV004650851] Chr11:124619439 [GRCh38]
Chr11:124489335 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_052959.3(PANX3):c.607C>T (p.His203Tyr) single nucleotide variant not specified [RCV004650849] Chr11:124619363 [GRCh38]
Chr11:124489259 [GRCh37]
Chr11:11q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:119
Count of miRNA genes:110
Interacting mature miRNAs:110
Transcripts:ENST00000284288
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human

Markers in Region
RH99055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,490,029 - 124,490,189UniSTSGRCh37
Build 3611123,995,239 - 123,995,399RGDNCBI36
Celera11121,650,206 - 121,650,366RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,432,488 - 120,432,648UniSTS
GeneMap99-GB4 RH Map11412.09UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
335 874 718 572 2738 723 852 4 256 437 118 513 1952 1878 14 2442 284 956 562 139

Sequence


Ensembl Acc Id: ENST00000284288   ⟹   ENSP00000284288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11124,611,428 - 124,620,356 (+)Ensembl
RefSeq Acc Id: NM_052959   ⟹   NP_443191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,611,428 - 124,620,356 (+)NCBI
GRCh3711124,481,453 - 124,490,252 (+)RGD
Build 3611123,986,663 - 123,995,462 (+)NCBI Archive
Celera11121,641,631 - 121,650,429 (+)RGD
HuRef11120,423,913 - 120,432,711 (+)ENTREZGENE
CHM1_111124,367,559 - 124,376,376 (+)NCBI
T2T-CHM13v2.011124,640,092 - 124,649,020 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_443191 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK95655 (Get FASTA)   NCBI Sequence Viewer  
  EAW67588 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000284288
  ENSP00000284288.2
GenBank Protein Q96QZ0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_443191   ⟸   NM_052959
- UniProtKB: Q96QZ0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000284288   ⟸   ENST00000284288

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96QZ0-F1-model_v2 AlphaFold Q96QZ0 1-392 view protein structure

Promoters
RGD ID:7222489
Promoter ID:EPDNEW_H16990
Type:initiation region
Name:PANX3_1
Description:pannexin 3
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
GRCh3811124,611,406 - 124,611,466EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20573 AgrOrtholog
COSMIC PANX3 COSMIC
Ensembl Genes ENSG00000154143 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000284288 ENTREZGENE
  ENST00000284288.3 UniProtKB/Swiss-Prot
GTEx ENSG00000154143 GTEx
HGNC ID HGNC:20573 ENTREZGENE
Human Proteome Map PANX3 Human Proteome Map
InterPro Innexin UniProtKB/Swiss-Prot
  Pannexin UniProtKB/Swiss-Prot
KEGG Report hsa:116337 UniProtKB/Swiss-Prot
NCBI Gene 116337 ENTREZGENE
OMIM 608422 OMIM
PANTHER PANNEXIN-3 UniProtKB/Swiss-Prot
  PTHR15759 UniProtKB/Swiss-Prot
Pfam Innexin UniProtKB/Swiss-Prot
PharmGKB PA134920643 PharmGKB
PROSITE PANNEXIN UniProtKB/Swiss-Prot
UniProt PANX3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE