PANX2 (pannexin 2) - Rat Genome Database

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Gene: PANX2 (pannexin 2) Homo sapiens
Analyze
Symbol: PANX2
Name: pannexin 2
RGD ID: 1349764
HGNC Page HGNC:8600
Description: Predicted to enable structural molecule activity and wide pore channel activity. Predicted to be involved in cell-cell signaling and monoatomic cation transport. Predicted to act upstream of or within response to ischemia. Located in plasma membrane. Biomarker of cholangiocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hPANX2; MGC119432; pannexin-2; PX2
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
GRCh382250,170,731 - 50,180,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,170,731 - 50,180,295 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,609,160 - 50,618,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,951,317 - 48,960,848 (+)NCBINCBI36Build 36hg18NCBI36
Build 342248,911,646 - 48,921,176NCBI
Celera2234,484,072 - 34,493,636 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,511,308 - 33,516,181 (+)NCBIHuRef
CHM1_12250,567,900 - 50,577,463 (+)NCBICHM1_1
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
chromium(6+)  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
furan  (ISO)
indole-3-methanol  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (EXP)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Identification of key genes and pathways associated with cholangiocarcinoma development based on weighted gene correlation network analysis. Liu J, etal., PeerJ. 2019 Oct 31;7:e7968. doi: 10.7717/peerj.7968. eCollection 2019.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:12477932   PMID:14597722   PMID:14702039   PMID:15028292   PMID:15461802   PMID:16344560   PMID:16989724   PMID:17427027   PMID:17474147   PMID:19749789  
PMID:19851296   PMID:20198315   PMID:20516070   PMID:21873635   PMID:24146091   PMID:24927181   PMID:25008946   PMID:25773474   PMID:26223428   PMID:28036289   PMID:28390953   PMID:29357945  
PMID:29932112   PMID:30021884   PMID:32296183   PMID:32513696   PMID:32665550   PMID:32770209   PMID:33003647   PMID:33913372   PMID:34921745   PMID:36869038   PMID:36973289   PMID:39389335  


Genomics

Comparative Map Data
PANX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,170,731 - 50,180,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,170,731 - 50,180,295 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,609,160 - 50,618,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,951,317 - 48,960,848 (+)NCBINCBI36Build 36hg18NCBI36
Build 342248,911,646 - 48,921,176NCBI
Celera2234,484,072 - 34,493,636 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,511,308 - 33,516,181 (+)NCBIHuRef
CHM1_12250,567,900 - 50,577,463 (+)NCBICHM1_1
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBIT2T-CHM13v2.0
Panx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391588,941,797 - 88,957,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1588,943,937 - 88,957,770 (+)EnsemblGRCm39 Ensembl
GRCm381589,059,057 - 89,073,566 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,059,734 - 89,073,567 (+)EnsemblGRCm38mm10GRCm38
MGSCv371588,890,156 - 88,901,337 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361588,887,870 - 88,897,644 (+)NCBIMGSCv36mm8
Celera1591,175,680 - 91,198,816 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.57NCBI
Panx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,018,937 - 122,032,009 (+)NCBIGRCr8
mRatBN7.27120,139,259 - 120,153,056 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,139,294 - 120,152,361 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7121,890,228 - 121,900,756 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,116,393 - 124,126,921 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,079,501 - 124,090,033 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,042,948 - 130,053,034 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,042,947 - 130,053,032 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07129,728,893 - 129,738,979 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,364,190 - 127,374,412 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,398,419 - 127,408,176 (+)NCBI
Celera7116,613,592 - 116,623,771 (+)NCBICelera
Cytogenetic Map7q34NCBI
Panx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,220,140 - 33,224,344 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,220,145 - 33,224,241 (+)NCBIChiLan1.0ChiLan1.0
PANX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,075,546 - 60,085,200 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12262,761,947 - 62,771,600 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,398,717 - 30,408,358 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,404,516 - 49,409,063 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,404,624 - 49,408,045 (+)Ensemblpanpan1.1panPan2
PANX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11017,052,972 - 17,059,756 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1017,052,956 - 17,055,880 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1017,030,576 - 17,037,865 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01017,779,626 - 17,786,929 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,779,614 - 17,786,922 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,503,674 - 17,510,972 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,826,699 - 17,833,986 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,958,945 - 17,966,248 (-)NCBIUU_Cfam_GSD_1.0
Panx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945618,784 - 626,452 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629618,042 - 626,452 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629618,758 - 626,446 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PANX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5497,385 - 506,013 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15497,380 - 506,126 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,720,301 - 110,729,048 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PANX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,662,350 - 32,671,536 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604592,684,542 - 92,693,776 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Panx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752565,357 - 575,069 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624752565,357 - 575,064 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PANX2
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
NM_001160300.1(PANX2):c.432C>T (p.Phe144=) single nucleotide variant Malignant melanoma [RCV000073008] Chr22:50177144 [GRCh38]
Chr22:50615573 [GRCh37]
Chr22:48957700 [NCBI36]
Chr22:22q13.33		 not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50180224-50199565)x1 copy number loss See cases [RCV000140778] Chr22:50180224..50199565 [GRCh38]
Chr22:50618653..50637994 [GRCh37]
Chr22:48960780..48980121 [NCBI36]
Chr22:22q13.33		 likely benign
GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1 copy number loss See cases [RCV000141600] Chr22:50055231..50202728 [GRCh38]
Chr22:50493660..50641157 [GRCh37]
Chr22:48835787..48983284 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_052839.4(PANX2):c.899T>C (p.Val300Ala) single nucleotide variant not specified [RCV004312450] Chr22:50177611 [GRCh38]
Chr22:50616040 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.367T>C (p.Phe123Leu) single nucleotide variant not specified [RCV004312444] Chr22:50177079 [GRCh38]
Chr22:50615508 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.870C>G (p.Ile290Met) single nucleotide variant not specified [RCV004312449] Chr22:50177582 [GRCh38]
Chr22:50616011 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50081517-50610628)x1 copy number loss not provided [RCV000684477] Chr22:50081517..50610628 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50555635-50710349)x3 copy number gain not provided [RCV000742096] Chr22:50555635..50710349 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_052839.4(PANX2):c.2014G>A (p.Val672Met) single nucleotide variant not specified [RCV004314481] Chr22:50179257 [GRCh38]
Chr22:50617686 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50464963-50668571)x1 copy number loss not provided [RCV000847100] Chr22:50464963..50668571 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.459G>T (p.Glu153Asp) single nucleotide variant not provided [RCV000997943] Chr22:50177171 [GRCh38]
Chr22:50615600 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1177G>A (p.Ala393Thr) single nucleotide variant not specified [RCV004293317] Chr22:50177889 [GRCh38]
Chr22:50616318 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_052839.4(PANX2):c.1283A>G (p.Lys428Arg) single nucleotide variant not specified [RCV004312442] Chr22:50177995 [GRCh38]
Chr22:50616424 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1312C>G (p.Pro438Ala) single nucleotide variant not specified [RCV004312443] Chr22:50178024 [GRCh38]
Chr22:50616453 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_052839.4(PANX2):c.1515T>C (p.Pro505=) single nucleotide variant not provided [RCV001710679] Chr22:50178227 [GRCh38]
Chr22:50616656 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50500012)_(50682888_?)dup duplication not provided [RCV001952769] Chr22:50500012..50682888 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_052839.4(PANX2):c.1244A>C (p.Asp415Ala) single nucleotide variant not specified [RCV004312441] Chr22:50177956 [GRCh38]
Chr22:50616385 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_052839.4(PANX2):c.1619G>A (p.Arg540Gln) single nucleotide variant not specified [RCV004242231] Chr22:50178331 [GRCh38]
Chr22:50616760 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.44T>C (p.Leu15Pro) single nucleotide variant not specified [RCV004141269] Chr22:50170774 [GRCh38]
Chr22:50609203 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1990A>G (p.Thr664Ala) single nucleotide variant not specified [RCV004104391] Chr22:50179233 [GRCh38]
Chr22:50617662 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1108G>A (p.Glu370Lys) single nucleotide variant not specified [RCV004134411] Chr22:50177820 [GRCh38]
Chr22:50616249 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1342G>T (p.Ala448Ser) single nucleotide variant not specified [RCV004082427] Chr22:50178054 [GRCh38]
Chr22:50616483 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.80C>T (p.Pro27Leu) single nucleotide variant not specified [RCV004099242] Chr22:50170810 [GRCh38]
Chr22:50609239 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.907C>T (p.Leu303Phe) single nucleotide variant not specified [RCV004123331] Chr22:50177619 [GRCh38]
Chr22:50616048 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.115G>A (p.Ala39Thr) single nucleotide variant not specified [RCV004108665] Chr22:50170845 [GRCh38]
Chr22:50609274 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1469A>C (p.Asp490Ala) single nucleotide variant not specified [RCV004224895] Chr22:50178181 [GRCh38]
Chr22:50616610 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1736C>G (p.Ala579Gly) single nucleotide variant not specified [RCV004072757] Chr22:50178979 [GRCh38]
Chr22:50617408 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1181C>T (p.Thr394Ile) single nucleotide variant not specified [RCV004203394] Chr22:50177893 [GRCh38]
Chr22:50616322 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.509A>C (p.Glu170Ala) single nucleotide variant not specified [RCV004237070] Chr22:50177221 [GRCh38]
Chr22:50615650 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1466G>A (p.Gly489Asp) single nucleotide variant not specified [RCV004077652] Chr22:50178178 [GRCh38]
Chr22:50616607 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1505C>A (p.Pro502Gln) single nucleotide variant not specified [RCV004217332] Chr22:50178217 [GRCh38]
Chr22:50616646 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1456G>A (p.Gly486Ser) single nucleotide variant not specified [RCV004096302] Chr22:50178168 [GRCh38]
Chr22:50616597 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1502C>T (p.Pro501Leu) single nucleotide variant not specified [RCV004079030] Chr22:50178214 [GRCh38]
Chr22:50616643 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.369C>G (p.Phe123Leu) single nucleotide variant not specified [RCV004312447] Chr22:50177081 [GRCh38]
Chr22:50615510 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.379G>T (p.Ala127Ser) single nucleotide variant not specified [RCV004312448] Chr22:50177091 [GRCh38]
Chr22:50615520 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.1732C>T (p.Pro578Ser) single nucleotide variant not specified [RCV004267621] Chr22:50178975 [GRCh38]
Chr22:50617404 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1613C>G (p.Ala538Gly) single nucleotide variant not specified [RCV004259287] Chr22:50178325 [GRCh38]
Chr22:50616754 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1934C>T (p.Pro645Leu) single nucleotide variant not specified [RCV004333753] Chr22:50179177 [GRCh38]
Chr22:50617606 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1880A>C (p.His627Pro) single nucleotide variant not specified [RCV004284904] Chr22:50179123 [GRCh38]
Chr22:50617552 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_052839.4(PANX2):c.1592C>T (p.Ala531Val) single nucleotide variant not specified [RCV004334394] Chr22:50178304 [GRCh38]
Chr22:50616733 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.670G>A (p.Ala224Thr) single nucleotide variant not specified [RCV004361514] Chr22:50177382 [GRCh38]
Chr22:50615811 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1187C>A (p.Thr396Lys) single nucleotide variant not specified [RCV004338025] Chr22:50177899 [GRCh38]
Chr22:50616328 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1895A>G (p.Tyr632Cys) single nucleotide variant not specified [RCV004346835] Chr22:50179138 [GRCh38]
Chr22:50617567 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1985T>C (p.Ile662Thr) single nucleotide variant not specified [RCV004350091] Chr22:50179228 [GRCh38]
Chr22:50617657 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.823G>A (p.Val275Met) single nucleotide variant not specified [RCV004362198] Chr22:50177535 [GRCh38]
Chr22:50615964 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3 copy number gain not provided [RCV003485248] Chr22:49839613..50740220 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1506G>C (p.Pro502=) single nucleotide variant not provided [RCV003437680] Chr22:50178218 [GRCh38]
Chr22:50616647 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 copy number loss not specified [RCV003986170] Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NM_052839.4(PANX2):c.1519A>C (p.Lys507Gln) single nucleotide variant not specified [RCV004500278] Chr22:50178231 [GRCh38]
Chr22:50616660 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1601C>G (p.Ala534Gly) single nucleotide variant not specified [RCV004500280] Chr22:50178313 [GRCh38]
Chr22:50616742 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1211C>T (p.Thr404Ile) single nucleotide variant not specified [RCV004500273] Chr22:50177923 [GRCh38]
Chr22:50616352 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1486G>A (p.Ala496Thr) single nucleotide variant not specified [RCV004500276] Chr22:50178198 [GRCh38]
Chr22:50616627 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1354G>A (p.Val452Met) single nucleotide variant not specified [RCV004500274] Chr22:50178066 [GRCh38]
Chr22:50616495 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1498G>C (p.Ala500Pro) single nucleotide variant not specified [RCV004500277] Chr22:50178210 [GRCh38]
Chr22:50616639 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.1580C>T (p.Ala527Val) single nucleotide variant not specified [RCV004500279] Chr22:50178292 [GRCh38]
Chr22:50616721 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1718C>T (p.Pro573Leu) single nucleotide variant not specified [RCV004500282] Chr22:50178961 [GRCh38]
Chr22:50617390 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.1966G>A (p.Ala656Thr) single nucleotide variant not specified [RCV004500283] Chr22:50179209 [GRCh38]
Chr22:50617638 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1474G>A (p.Gly492Ser) single nucleotide variant not specified [RCV004500275] Chr22:50178186 [GRCh38]
Chr22:50616615 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1679C>G (p.Ala560Gly) single nucleotide variant not specified [RCV004500281] Chr22:50178391 [GRCh38]
Chr22:50616820 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.466T>C (p.Phe156Leu) single nucleotide variant not specified [RCV004500284] Chr22:50177178 [GRCh38]
Chr22:50615607 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.20A>T (p.Gln7Leu) single nucleotide variant not specified [RCV004664134] Chr22:50170750 [GRCh38]
Chr22:50609179 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.844C>A (p.Pro282Thr) single nucleotide variant not specified [RCV004664135] Chr22:50177556 [GRCh38]
Chr22:50615985 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1904G>A (p.Arg635Gln) single nucleotide variant not specified [RCV004664136] Chr22:50179147 [GRCh38]
Chr22:50617576 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1995C>T (p.Phe665=) single nucleotide variant not specified [RCV004650845] Chr22:50179238 [GRCh38]
Chr22:50617667 [GRCh37]
Chr22:22q13.33		 likely benign
NM_052839.4(PANX2):c.1417A>G (p.Ile473Val) single nucleotide variant not specified [RCV004650846] Chr22:50178129 [GRCh38]
Chr22:50616558 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.560T>G (p.Ile187Ser) single nucleotide variant not specified [RCV004650847] Chr22:50177272 [GRCh38]
Chr22:50615701 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_052839.4(PANX2):c.1977G>C (p.Gln659His) single nucleotide variant not specified [RCV004650848] Chr22:50179220 [GRCh38]
Chr22:50617649 [GRCh37]
Chr22:22q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2703
Count of miRNA genes:699
Interacting mature miRNAs:786
Transcripts:ENST00000159647, ENST00000395842, ENST00000402472
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597034277GWAS1130351_Hbrain volume measurement QTL GWAS1130351 (human)5e-09brain volume measurementbrain morphological measurement (CMO:0000136)225017837750178378Human
597035027GWAS1131101_Hbrain volume measurement QTL GWAS1131101 (human)2e-08brain volume measurementbrain morphological measurement (CMO:0000136)225017837750178378Human
597320817GWAS1416891_Heducational attainment QTL GWAS1416891 (human)2e-10educational attainment225017604750176048Human


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
visual system
1204 2406 2782 2226 4969 1721 2343 3 623 1841 464 2267 7135 6346 51 3732 831 1738 1609 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001160300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF398510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF398511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ576292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU732466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU734128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA432022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA116770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA127683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000159647   ⟹   ENSP00000159647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,170,731 - 50,180,292 (+)Ensembl
Ensembl Acc Id: ENST00000395842   ⟹   ENSP00000379183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,170,731 - 50,180,295 (+)Ensembl
Ensembl Acc Id: ENST00000402472   ⟹   ENSP00000384148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,170,761 - 50,179,598 (+)Ensembl
RefSeq Acc Id: NM_001160300   ⟹   NP_001153772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,170,731 - 50,180,295 (+)NCBI
GRCh372250,609,160 - 50,618,724 (+)RGD
Celera2234,484,072 - 34,493,636 (+)RGD
HuRef2233,511,308 - 33,516,181 (+)RGD
CHM1_12250,567,900 - 50,577,463 (+)NCBI
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052839   ⟹   NP_443071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,170,731 - 50,180,295 (+)NCBI
GRCh372250,609,160 - 50,618,724 (+)RGD
Build 362248,951,317 - 48,960,848 (+)NCBI Archive
Celera2234,484,072 - 34,493,636 (+)RGD
HuRef2233,511,308 - 33,516,181 (+)RGD
CHM1_12250,567,900 - 50,577,463 (+)NCBI
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027691
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,170,731 - 50,180,295 (+)NCBI
GRCh372250,609,160 - 50,618,724 (+)RGD
Celera2234,484,072 - 34,493,636 (+)RGD
HuRef2233,511,308 - 33,516,181 (+)RGD
CHM1_12250,567,900 - 50,577,463 (+)NCBI
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441448   ⟹   XP_047297404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,170,731 - 50,180,295 (+)NCBI
RefSeq Acc Id: XM_047441449   ⟹   XP_047297405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,173,260 - 50,180,295 (+)NCBI
RefSeq Acc Id: XM_054325801   ⟹   XP_054181776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,677,468 - 50,687,032 (+)NCBI
RefSeq Acc Id: XM_054325802   ⟹   XP_054181777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,680,103 - 50,687,032 (+)NCBI
RefSeq Acc Id: NP_443071   ⟸   NM_052839
- Peptide Label: isoform 1
- UniProtKB: Q96RD6 (UniProtKB/Swiss-Prot),   Q96RD5 (UniProtKB/Swiss-Prot),   B7Z684 (UniProtKB/Swiss-Prot),   Q9UGX8 (UniProtKB/Swiss-Prot),   B3KTT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153772   ⟸   NM_001160300
- Peptide Label: isoform 2
- UniProtKB: B3KTT7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000384148   ⟸   ENST00000402472
Ensembl Acc Id: ENSP00000159647   ⟸   ENST00000159647
Ensembl Acc Id: ENSP00000379183   ⟸   ENST00000395842
RefSeq Acc Id: XP_047297404   ⟸   XM_047441448
- Peptide Label: isoform X1
- UniProtKB: Q6ICA1 (UniProtKB/TrEMBL),   B3KTT7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297405   ⟸   XM_047441449
- Peptide Label: isoform X1
- UniProtKB: Q6ICA1 (UniProtKB/TrEMBL),   B3KTT7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181776   ⟸   XM_054325801
- Peptide Label: isoform X1
- UniProtKB: Q6ICA1 (UniProtKB/TrEMBL),   B3KTT7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181777   ⟸   XM_054325802
- Peptide Label: isoform X1
- UniProtKB: Q6ICA1 (UniProtKB/TrEMBL),   B3KTT7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RD6-F1-model_v2 AlphaFold Q96RD6 1-677 view protein structure

Promoters
RGD ID:6800191
Promoter ID:HG_KWN:43342
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001160300,   NM_052839,   NR_027691
Position:
Human AssemblyChrPosition (strand)Source
Build 362248,950,479 - 48,950,979 (+)MPROMDB
RGD ID:13604506
Promoter ID:EPDNEW_H28437
Type:initiation region
Name:PANX2_1
Description:pannexin 2
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
GRCh382250,170,750 - 50,170,810EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8600 AgrOrtholog
COSMIC PANX2 COSMIC
Ensembl Genes ENSG00000073150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000159647 ENTREZGENE
  ENST00000159647.9 UniProtKB/Swiss-Prot
  ENST00000395842 ENTREZGENE
  ENST00000395842.3 UniProtKB/Swiss-Prot
  ENST00000402472.2 UniProtKB/TrEMBL
GTEx ENSG00000073150 GTEx
HGNC ID HGNC:8600 ENTREZGENE
Human Proteome Map PANX2 Human Proteome Map
InterPro Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pannexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56666 ENTREZGENE
OMIM 608421 OMIM
PANTHER PANNEXIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15759 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32930 PharmGKB
PROSITE PANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KTT7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z684 ENTREZGENE
  F8W8Y4_HUMAN UniProtKB/TrEMBL
  PANX2_HUMAN UniProtKB/Swiss-Prot
  Q495U3_HUMAN UniProtKB/TrEMBL
  Q6ICA1 ENTREZGENE, UniProtKB/TrEMBL
  Q96RD5 ENTREZGENE
  Q96RD6 ENTREZGENE
  Q9UGX8 ENTREZGENE
UniProt Secondary B7Z684 UniProtKB/Swiss-Prot
  Q96RD5 UniProtKB/Swiss-Prot
  Q9UGX8 UniProtKB/Swiss-Prot