ACE2 (angiotensin I converting enzyme 2) - Rat Genome Database
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Gene: ACE2 (angiotensin I converting enzyme 2) Homo sapiens
Analyze
Symbol: ACE2
Name: angiotensin I converting enzyme 2
RGD ID: 1347174
HGNC Page HGNC
Description: Exhibits peptidase activity and virus receptor activity. Involved in several processes, including angiotensin-mediated drinking behavior; positive regulation of gap junction assembly; and regulation of transmembrane transport. Localizes to several cellular components, including apical plasma membrane; brush border membrane; and cell surface. Implicated in several diseases, including COVID-19; avian influenza; diabetic retinopathy; respiratory syncytial virus infectious disease; and severe acute respiratory syndrome. Biomarker of pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACE-related carboxypeptidase; ACEH; angiotensin I converting enzyme (peptidyl-dipeptidase A) 2; angiotensin-converting enzyme 2; angiotensin-converting enzyme homolog; angiotensin-converting enzyme-related carboxypeptidase; DKFZp434A014; metalloprotease MPROT15; peptidyl-dipeptidase A; truncated angiotensin converting enzyme 2
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
Is Marker For: Strains:   SHRSP-Tg(Tagln-ACE2)6918Bdr  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,561,033 - 15,602,148 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX15,494,566 - 15,607,236 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,518,197 - 15,602,158 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,579,156 - 15,620,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,489,077 - 15,529,058 (-)NCBINCBI36hg18NCBI36
Build 34X15,338,812 - 15,378,794NCBI
CeleraX19,694,648 - 19,735,682 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,333,989 - 13,374,656 (-)NCBIHuRef
CHM1_1X15,610,102 - 15,651,154 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (EXP)
Acute Lung Injury  (IDA,ISO)
adult respiratory distress syndrome  (EXP)
autistic disorder  (IAGP)
avian influenza  (IDA,ISO)
bacterial pneumonia  (ISO)
Cardiac Fibrosis  (ISO)
cardiomyopathy  (EXP)
Cardiovirus Infections  (ISO)
cerebral malaria  (IAGP)
chemical colitis  (ISO)
congestive heart failure  (EXP,IEP)
Coronary Disease  (IAGP)
Coronavirus infectious disease  (EXP)
COVID-19  (IAGP,IMP,ISS)
Diabetic Cardiomyopathies  (ISO)
Diabetic Nephropathies  (EXP,IAGP,IEP,ISO)
diabetic retinopathy  (EXP,IMP)
endomyocardial fibrosis  (EXP)
Experimental Autoimmune Uveoretinitis  (IMP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
focal segmental glomerulosclerosis  (EXP)
glaucoma  (ISO)
hypertension  (EXP,IAGP,ISO)
Hypertensive Nephrosclerosis  (IEP)
hypertrophic cardiomyopathy  (IEP)
Inflammation  (EXP)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (ISO)
lung disease  (ISO)
Lung Injury  (EXP)
middle cerebral artery infarction  (ISO)
myocardial infarction  (ISO)
Neurodevelopmental Disorders  (IAGP)
pancreatic ductal carcinoma  (IEP)
Pleural Effusion  (IEP)
Pregnancy-Induced Hypertension  (ISO)
primary biliary cholangitis  (ISO)
pulmonary fibrosis  (EXP,ISO)
pulmonary hypertension  (EXP,IMP)
respiratory syncytial virus infectious disease  (IDA,ISO)
severe acute respiratory syndrome  (EXP,IMP,ISO)
Spontaneous Abortions  (EXP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
thrombosis  (ISO)
Ventricular Remodeling  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
14,15-EET  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP,ISO)
amphetamine  (ISO)
ampicillin  (ISO)
aprindine  (EXP)
atorvastatin calcium  (ISO)
benazepril  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cadmium dichloride  (ISO)
candesartan  (ISO)
Candesartan cilexetil  (ISO)
captopril  (EXP,ISO)
carbon nanotube  (ISO)
ceftriaxone  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP,ISO)
cyclosporin A  (ISO)
DDE  (ISO)
diminazene  (EXP)
diminazene diaceturate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP)
ethanol  (ISO)
etoposide  (EXP)
gentamycin  (ISO)
GW 4064  (ISO)
hydroquinone  (EXP)
hydroxyzine  (EXP)
imidapril  (EXP)
Iodine aqueous  (EXP)
irbesartan  (EXP)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
labetalol  (EXP)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lisinopril dihydrate  (ISO)
losartan  (ISO)
Magnolol  (ISO)
metronidazole  (ISO)
monocrotaline  (ISO)
neomycin  (ISO)
nickel atom  (EXP)
olmesartan  (ISO)
orphenadrine  (ISO)
paraquat  (ISO)
PD123319  (ISO)
pentanal  (EXP)
perindopril  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirfenidone  (ISO)
pirinixic acid  (EXP)
pregabalin  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
telmisartan  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trandolapril  (ISO)
tributylstannane  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
xanthone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
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Additional References at PubMed
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PMID:32858292   PMID:32861070   PMID:32870820   PMID:32882331   PMID:32883878   PMID:32901211   PMID:32904601   PMID:32913273   PMID:32916258   PMID:32917283   PMID:32917722   PMID:32919067  
PMID:32927621   PMID:32936531   PMID:32936832   PMID:32942285   PMID:32949179   PMID:32950735   PMID:32958580   PMID:32970989   PMID:32991842   PMID:32996784   PMID:33000221   PMID:33003587  
PMID:33008593   PMID:33016778   PMID:33024003   PMID:33031602   PMID:33038424   PMID:33042151   PMID:33046696   PMID:33053430   PMID:33064147   PMID:33077915   PMID:33077916   PMID:33081421  
PMID:33082294   PMID:33084449   PMID:33093202   PMID:33102950   PMID:33104520   PMID:33112147   PMID:33112891   PMID:33116139   PMID:33122196   PMID:33125431   PMID:33158276   PMID:33164751  
PMID:33175551   PMID:33177651   PMID:33207244   PMID:33207245   PMID:33231620   PMID:33244196   PMID:33257679   PMID:33271067   PMID:33274196   PMID:33284956   PMID:33322198   PMID:33323800  
PMID:33326500   PMID:33335073   PMID:33347434  


Genomics

Comparative Map Data
ACE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,561,033 - 15,602,148 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX15,494,566 - 15,607,236 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,518,197 - 15,602,158 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,579,156 - 15,620,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,489,077 - 15,529,058 (-)NCBINCBI36hg18NCBI36
Build 34X15,338,812 - 15,378,794NCBI
CeleraX19,694,648 - 19,735,682 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,333,989 - 13,374,656 (-)NCBIHuRef
CHM1_1X15,610,102 - 15,651,154 (-)NCBICHM1_1
Ace2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X162,922,338 - 162,971,414 (+)NCBIGRCm39mm39
GRCm38X164,139,342 - 164,188,418 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX164,139,332 - 164,188,420 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X160,577,274 - 160,626,350 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X159,484,737 - 159,532,523 (+)NCBImm8
CeleraX147,353,722 - 147,402,904 (+)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX76.12NCBI
Ace2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0X32,050,734 - 32,095,860 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX32,049,931 - 32,096,016 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X32,422,286 - 32,469,137 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X51,051,758 - 51,096,036 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X51,105,228 - 51,149,505 (-)NCBI
CeleraX30,638,123 - 30,683,403 (-)NCBICelera
Cytogenetic MapXq14NCBI
Ace2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555192,591,248 - 2,633,495 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555192,591,229 - 2,643,705 (+)NCBIChiLan1.0ChiLan1.0
ACE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X15,470,896 - 15,510,891 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX15,470,896 - 15,510,891 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X8,189,267 - 8,229,415 (-)NCBIMhudiblu_PPA_v0panPan3
ACE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX11,798,839 - 11,900,594 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X11,798,839 - 11,839,591 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ace2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364704,964,526 - 5,011,808 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX12,099,853 - 12,151,275 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X12,099,849 - 12,152,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X13,061,317 - 13,089,851 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACE2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 EnsemblX14,030,233 - 14,077,785 (-)Ensembl
ChlSab1.1X14,032,231 - 14,094,163 (-)NCBI
Ace2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624829344,823 - 391,451 (-)NCBI

Position Markers
RH92830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,579,245 - 15,579,393UniSTSGRCh37
Build 36X15,489,166 - 15,489,314RGDNCBI36
CeleraX19,694,737 - 19,694,885RGD
Cytogenetic MapXp22UniSTS
HuRefX13,334,078 - 13,334,226UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
SHGC-143063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,583,595 - 15,583,893UniSTSGRCh37
Build 36X15,493,516 - 15,493,814RGDNCBI36
CeleraX19,699,087 - 19,699,385RGD
Cytogenetic MapXp22UniSTS
HuRefX13,338,430 - 13,338,728UniSTS
TNG Radiation Hybrid MapX4422.0UniSTS
ACE2_1659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,578,984 - 15,579,845UniSTSGRCh37
Build 36X15,488,905 - 15,489,766RGDNCBI36
CeleraX19,694,476 - 19,695,337RGD
HuRefX13,333,817 - 13,334,678UniSTS
DXS7698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,592,968 - 15,593,157UniSTSGRCh37
Build 36X15,502,889 - 15,503,078RGDNCBI36
CeleraX19,708,452 - 19,708,641RGD
Cytogenetic MapXp22UniSTS


Related Rat Strains
The following Strains have been annotated to ACE2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2173
Count of miRNA genes:918
Interacting mature miRNAs:1076
Transcripts:ENST00000252519, ENST00000427411, ENST00000471548, ENST00000473851, ENST00000484756
Prediction methods:Microtar, Miranda, Pita, 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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 304 233 222 21 110 23 142 160 5 180 409 224 1 368 5
Low 1261 1098 972 432 84 280 1700 1169 377 143 715 1095 160 727 935 2
Below cutoff 836 1426 493 145 878 138 2431 820 3164 71 297 218 11 1 109 1823 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB193259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB193260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF241254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF291820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX047758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX418982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX431513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY217547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY623811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ262784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT505392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252519   ⟹   ENSP00000252519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,561,033 - 15,600,960 (-)Ensembl
RefSeq Acc Id: ENST00000427411   ⟹   ENSP00000389326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,561,033 - 15,602,069 (-)Ensembl
RefSeq Acc Id: ENST00000471548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,561,036 - 15,566,287 (-)Ensembl
RefSeq Acc Id: ENST00000473851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,561,880 - 15,566,709 (-)Ensembl
RefSeq Acc Id: ENST00000484756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,594,887 - 15,602,148 (-)Ensembl
RefSeq Acc Id: ENST00000677282   ⟹   ENSP00000504747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,557,039 - 15,580,438 (-)Ensembl
RefSeq Acc Id: ENST00000678046   ⟹   ENSP00000502872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,550,715 - 15,600,960 (-)Ensembl
RefSeq Acc Id: ENST00000678073   ⟹   ENSP00000504103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,557,039 - 15,607,236 (-)Ensembl
RefSeq Acc Id: ENST00000679162   ⟹   ENSP00000503771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,494,566 - 15,600,960 (-)Ensembl
RefSeq Acc Id: ENST00000679212   ⟹   ENSP00000503558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,494,566 - 15,600,960 (-)Ensembl
RefSeq Acc Id: ENST00000679278   ⟹   ENSP00000504010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,518,189 - 15,600,960 (-)Ensembl
RefSeq Acc Id: NM_001371415   ⟹   NP_001358344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,561,033 - 15,600,960 (-)NCBI
RefSeq Acc Id: NM_001386259   ⟹   NP_001373188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,518,197 - 15,600,960 (-)NCBI
RefSeq Acc Id: NM_001386260   ⟹   NP_001373189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,561,033 - 15,600,960 (-)NCBI
RefSeq Acc Id: NM_001388452   ⟹   NP_001375381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,561,033 - 15,580,420 (-)NCBI
RefSeq Acc Id: NM_021804   ⟹   NP_068576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,561,033 - 15,602,158 (-)NCBI
GRCh37X15,579,156 - 15,620,192 (-)ENTREZGENE
Build 36X15,489,077 - 15,529,058 (-)NCBI Archive
HuRefX13,333,989 - 13,374,656 (-)ENTREZGENE
CHM1_1X15,610,102 - 15,651,154 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_068576   ⟸   NM_021804
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BYF1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358344   ⟸   NM_001371415
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: ENSP00000252519   ⟸   ENST00000252519
RefSeq Acc Id: ENSP00000389326   ⟸   ENST00000427411
RefSeq Acc Id: NP_001373188   ⟸   NM_001386259
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001373189   ⟸   NM_001386260
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001375381   ⟸   NM_001388452
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000504747   ⟸   ENST00000677282
RefSeq Acc Id: ENSP00000502872   ⟸   ENST00000678046
RefSeq Acc Id: ENSP00000504103   ⟸   ENST00000678073
RefSeq Acc Id: ENSP00000503558   ⟸   ENST00000679212
RefSeq Acc Id: ENSP00000504010   ⟸   ENST00000679278
RefSeq Acc Id: ENSP00000503771   ⟸   ENST00000679162

Protein Structures
Name Modeller Protein Id AA Range Protein Structure Video
ACE2 pdb 1r42 Q9BYF1 18-708 view protein structure  

Promoters
RGD ID:13604800
Promoter ID:EPDNEW_H28584
Type:multiple initiation site
Name:ACE2_1
Description:angiotensin I converting enzyme 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28585  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,600,960 - 15,601,020EPDNEW
RGD ID:13604802
Promoter ID:EPDNEW_H28585
Type:multiple initiation site
Name:ACE2_2
Description:angiotensin I converting enzyme 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28584  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,602,155 - 15,602,215EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_021804.2(ACE2):c.850C>T (p.Pro284Ser) single nucleotide variant Malignant melanoma [RCV000073139] ChrX:15585525 [GRCh38]
ChrX:15603648 [GRCh37]
ChrX:15513569 [NCBI36]
ChrX:Xp22.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:15360898-15685709)x2 copy number gain See cases [RCV000139559] ChrX:15360898..15685709 [GRCh38]
ChrX:15379020..15703832 [GRCh37]
ChrX:15288941..15613753 [NCBI36]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_203281.2(BMX):c.516G>A (p.Lys172=) single nucleotide variant Malignant melanoma [RCV000073136] ChrX:15522351 [GRCh38]
ChrX:15540474 [GRCh37]
ChrX:15450395 [NCBI36]
ChrX:Xp22.2
not provided
NM_203281.2(BMX):c.546G>A (p.Met182Ile) single nucleotide variant Malignant melanoma [RCV000073137] ChrX:15522381 [GRCh38]
ChrX:15540504 [GRCh37]
ChrX:15450425 [NCBI36]
ChrX:Xp22.2
not provided
NM_203281.2(BMX):c.326-2247C>T single nucleotide variant Lung cancer [RCV000102442] ChrX:15513865 [GRCh38]
ChrX:15531988 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:15445440-16061424)x2 copy number gain See cases [RCV000445674] ChrX:15445440..16061424 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.2(chrX:15448015-15714937)x3 copy number gain not provided [RCV000684276] ChrX:15448015..15714937 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3 copy number gain not provided [RCV000684277] ChrX:15486059..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:15290053-16071445)x3 copy number gain not provided [RCV000753391] ChrX:15290053..16071445 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001371415.1(ACE2):c.77A>G (p.Lys26Arg) single nucleotide variant not provided [RCV000961241] ChrX:15600835 [GRCh38]
ChrX:15618958 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_001371415.1(ACE2):c.584-7C>A single nucleotide variant not provided [RCV000898490] ChrX:15589463 [GRCh38]
ChrX:15607586 [GRCh37]
ChrX:Xp22.2
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2 copy number gain not provided [RCV000846122] ChrX:15334953..16221373 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2 copy number gain not provided [RCV000848087] ChrX:15172188..16136635 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3 copy number gain not provided [RCV000846206] ChrX:14897121..15895646 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001371415.1(ACE2):c.2070T>C (p.Asn690=) single nucleotide variant not provided [RCV000959720] ChrX:15566297 [GRCh38]
ChrX:15584420 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_203281.3(BMX):c.1602C>T (p.His534=) single nucleotide variant not provided [RCV000896388] ChrX:15542189 [GRCh38]
ChrX:15560312 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2 copy number gain not provided [RCV001007264] ChrX:15319722..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_203281.3(BMX):c.641C>T (p.Ala214Val) single nucleotide variant not provided [RCV000903359] ChrX:15522476 [GRCh38]
ChrX:15540599 [GRCh37]
ChrX:Xp22.2
benign
NM_203281.3(BMX):c.1796-9G>C single nucleotide variant not provided [RCV000915265] ChrX:15549831 [GRCh38]
ChrX:15567954 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13557 AgrOrtholog
COSMIC ACE2 COSMIC
Ensembl Genes ENSG00000130234 Ensembl, ENTREZGENE
Ensembl Protein ENSP00000252519 ENTREZGENE
  ENSP00000389326 ENTREZGENE
  ENSP00000504010 ENTREZGENE
  ENSP00000504747 ENTREZGENE
Ensembl Transcript ENST00000252519 ENTREZGENE
  ENST00000427411 ENTREZGENE
  ENST00000677282 ENTREZGENE
  ENST00000679278 ENTREZGENE
GTEx ENSG00000130234 GTEx
HGNC ID HGNC:13557 ENTREZGENE
Human Proteome Map ACE2 Human Proteome Map
InterPro Collectrin_dom UniProtKB/Swiss-Prot
  Peptidase_M2 UniProtKB/Swiss-Prot
KEGG Report hsa:59272 UniProtKB/Swiss-Prot
NCBI Gene 59272 ENTREZGENE
OMIM 300335 OMIM
PANTHER PTHR10514 UniProtKB/Swiss-Prot
Pfam Collectrin UniProtKB/Swiss-Prot
  Peptidase_M2 UniProtKB/Swiss-Prot
PharmGKB ACE2 RGD, PharmGKB
PRINTS PEPDIPTASEA UniProtKB/Swiss-Prot
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
UniGene Hs.178098 ENTREZGENE
UniProt A0A7D6JAD5_HUMAN UniProtKB/TrEMBL
  ACE2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary C7ECU1 UniProtKB/Swiss-Prot
  Q6UWP0 UniProtKB/Swiss-Prot
  Q86WT0 UniProtKB/Swiss-Prot
  Q9NRA7 UniProtKB/Swiss-Prot
  Q9UFZ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-18 ACE2  angiotensin I converting enzyme 2    angiotensin I converting enzyme (peptidyl-dipeptidase A) 2  Symbol and/or name change 5135510 APPROVED
2013-06-18 ACE2  angiotensin I converting enzyme 2  ACE2  angiotensin I converting enzyme (peptidyl-dipeptidase A) 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 ACE2  angiotensin I converting enzyme (peptidyl-dipeptidase A) 2  ACE2  angiotensin I converting enzyme (peptidyl-dipeptidase A) 2  Symbol and/or name change 5135510 APPROVED