HTR2C (5-hydroxytryptamine receptor 2C) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: HTR2C (5-hydroxytryptamine receptor 2C) Homo sapiens
Analyze
Symbol: HTR2C
Name: 5-hydroxytryptamine receptor 2C
RGD ID: 736842
HGNC Page HGNC
Description: Exhibits several functions, including 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding activity; Gq/11-coupled serotonin receptor activity; and serotonin binding activity. Involved in several processes, including phospholipase C-activating serotonin receptor signaling pathway; positive regulation of ERK1 and ERK2 cascade; and positive regulation of phosphatidylinositol biosynthetic process. Localizes to G protein-coupled serotonin receptor complex and integral component of plasma membrane. Implicated in bipolar disorder; obesity; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5-HT-1C; 5-HT-2C; 5-HT1C; 5-HT2C; 5-HTR2C; 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled; 5-hydroxytryptamine receptor 1C; 5-hydroxytryptamine receptor-1c; 5HTR2C; HTR1C; serotonin 5-HT-1C receptor; serotonin 5-HT-2C receptor; serotonin receptor 2C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX114,584,078 - 114,910,061 (+)EnsemblGRCh38hg38GRCh38
GRCh38X114,584,086 - 114,910,061 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X113,818,551 - 114,144,624 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X113,724,807 - 114,050,880 (+)NCBINCBI36hg18NCBI36
Build 34X113,641,530 - 113,967,604NCBI
CeleraX114,253,715 - 114,579,778 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX103,403,272 - 103,731,741 (+)NCBIHuRef
CHM1_1X113,729,484 - 114,055,500 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,2-dichloroethane  (ISO)
1-(3-chlorophenyl)piperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-bromopropane  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (EXP)
2-chloro-6-(1-piperazinyl)pyrazine  (ISO)
3,4-methylenedioxymethamphetamine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
agomelatine  (EXP)
all-trans-retinoic acid  (EXP)
amitriptyline  (EXP)
ammonium chloride  (ISO)
aripiprazole  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbamazepine  (ISO)
chlorpyrifos  (ISO)
citalopram  (EXP)
clomipramine  (EXP,ISO)
clozapine  (EXP,ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dioxygen  (EXP)
dopamine  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenfluramine  (EXP)
fenvalerate  (ISO)
fluoxetine  (EXP,ISO)
fluphenazine  (EXP)
folic acid  (ISO)
genistein  (ISO)
haloperidol  (ISO)
imidacloprid  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
loxapine  (ISO)
mesulergine  (EXP,ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
mianserin  (EXP,ISO)
mirtazapine  (EXP)
nefazodone  (EXP)
nitrates  (ISO)
nortriptyline  (EXP)
olanzapine  (EXP,ISO)
paroxetine  (ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
risperidone  (EXP)
sarpogrelate  (EXP)
SB 206553  (EXP,ISO)
SB 243213  (EXP)
SB 431542  (EXP)
scopolamine  (ISO)
serotonin  (ISO)
sertraline  (ISO)
testosterone  (EXP,ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
trazodone  (EXP)
trichostatin A  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ regeneration  (ISO)
behavioral fear response  (ISS)
behavioral response to nicotine  (ISO)
cellular calcium ion homeostasis  (IDA)
cGMP-mediated signaling  (IDA)
chemical synaptic transmission  (IBA)
feeding behavior  (ISO,ISS)
G protein-coupled receptor signaling pathway  (TAS)
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  (IBA)
G protein-coupled serotonin receptor signaling pathway  (IDA)
inositol phosphate-mediated signaling  (ISO)
locomotory behavior  (IEA)
negative regulation of dopamine metabolic process  (ISO)
negative regulation of locomotion  (ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IBA)
phospholipase C-activating serotonin receptor signaling pathway  (IDA,ISO,ISS)
phospholipase D-activating G protein-coupled receptor signaling pathway  (ISO)
positive regulation of acetylcholine secretion, neurotransmission  (ISO)
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway  (ISS)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of fat cell differentiation  (IEA,ISO)
positive regulation of gamma-aminobutyric acid secretion  (ISO)
positive regulation of phosphatidylinositol biosynthetic process  (IDA)
positive regulation of vasoconstriction  (ISO)
regulation of appetite  (ISS)
regulation of corticotropin-releasing hormone secretion  (ISS)
regulation of nervous system process  (ISS)
regulation of sensory perception of pain  (ISO)
release of sequestered calcium ion into cytosol  (IBA,IMP)
response to drug  (IBA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1302605   PMID:1722404   PMID:7557992   PMID:7582481   PMID:7700379   PMID:7895773   PMID:8812491   PMID:8863824   PMID:9153397   PMID:9241279   PMID:9537516   PMID:9700207  
PMID:9928237   PMID:10206230   PMID:10391209   PMID:10581480   PMID:10816555   PMID:11140333   PMID:11140838   PMID:11150294   PMID:11205431   PMID:11300730   PMID:11343611   PMID:11502363  
PMID:11525423   PMID:11526472   PMID:11888546   PMID:11916537   PMID:11988167   PMID:12006486   PMID:12007749   PMID:12086765   PMID:12111480   PMID:12145300   PMID:12192608   PMID:12425817  
PMID:12454564   PMID:12477932   PMID:12518270   PMID:12627464   PMID:12650852   PMID:12668355   PMID:12682077   PMID:12707936   PMID:12759158   PMID:12767050   PMID:12858032   PMID:12877392  
PMID:12970106   PMID:14574222   PMID:14602721   PMID:14699441   PMID:14722258   PMID:15052272   PMID:15102340   PMID:15109354   PMID:15123239   PMID:15147464   PMID:15167695   PMID:15241435  
PMID:15304380   PMID:15309390   PMID:15313842   PMID:15318026   PMID:15381968   PMID:15489334   PMID:15518545   PMID:15551195   PMID:15562295   PMID:15581469   PMID:15635667   PMID:15666332  
PMID:15695058   PMID:15717291   PMID:15772651   PMID:15831837   PMID:15864111   PMID:15927089   PMID:15935077   PMID:15953671   PMID:16021472   PMID:16157158   PMID:16195233   PMID:16258205  
PMID:16319069   PMID:16357227   PMID:16382194   PMID:16433010   PMID:16464220   PMID:16633140   PMID:16682118   PMID:16741915   PMID:16770336   PMID:16857671   PMID:16914526   PMID:16959425  
PMID:17039480   PMID:17055531   PMID:17098333   PMID:17102980   PMID:17192951   PMID:17275977   PMID:17291373   PMID:17558446   PMID:17625040   PMID:17632216   PMID:17697626   PMID:17702092  
PMID:17728663   PMID:17767148   PMID:17848916   PMID:17901921   PMID:17964050   PMID:18029348   PMID:18079067   PMID:18083778   PMID:18086475   PMID:18192901   PMID:18205001   PMID:18211617  
PMID:18240029   PMID:18270970   PMID:18303585   PMID:18336767   PMID:18389501   PMID:18460774   PMID:18499489   PMID:18504633   PMID:18515891   PMID:18562401   PMID:18593952   PMID:18703043  
PMID:18715570   PMID:18718676   PMID:18768750   PMID:18802918   PMID:18855532   PMID:19005330   PMID:19032968   PMID:19038234   PMID:19057895   PMID:19058789   PMID:19077438   PMID:19086053  
PMID:19106782   PMID:19142101   PMID:19142110   PMID:19156168   PMID:19193342   PMID:19304781   PMID:19339052   PMID:19411841   PMID:19416518   PMID:19434072   PMID:19439249   PMID:19445671  
PMID:19455600   PMID:19474754   PMID:19496825   PMID:19614978   PMID:19636338   PMID:19653017   PMID:19690620   PMID:19829168   PMID:19874574   PMID:19913121   PMID:19956635   PMID:19997080  
PMID:20010449   PMID:20010450   PMID:20015120   PMID:20022223   PMID:20045196   PMID:20060656   PMID:20065966   PMID:20071033   PMID:20075642   PMID:20092861   PMID:20195292   PMID:20345755  
PMID:20351714   PMID:20394819   PMID:20407490   PMID:20415561   PMID:20435093   PMID:20452754   PMID:20453482   PMID:20468064   PMID:20494452   PMID:20504252   PMID:20520301   PMID:20538346  
PMID:20538960   PMID:20545463   PMID:20562674   PMID:20628086   PMID:20680028   PMID:20734064   PMID:20846463   PMID:20948451   PMID:21037584   PMID:21185157   PMID:21614492   PMID:21717509  
PMID:21873635   PMID:21937795   PMID:21967853   PMID:22123816   PMID:22397586   PMID:22404657   PMID:22414959   PMID:22497996   PMID:22593582   PMID:22764241   PMID:22766135   PMID:22926610  
PMID:22967772   PMID:23345234   PMID:23375407   PMID:23494383   PMID:23494654   PMID:23537943   PMID:23609402   PMID:23644029   PMID:23765961   PMID:24089568   PMID:24386118   PMID:24414086  
PMID:24525657   PMID:24562856   PMID:24618688   PMID:24770757   PMID:24781207   PMID:24799636   PMID:25190618   PMID:25284335   PMID:25304226   PMID:25427431   PMID:25452160   PMID:25457638  
PMID:25514629   PMID:25596490   PMID:25609374   PMID:25727097   PMID:25732952   PMID:25770211   PMID:25825490   PMID:25966590   PMID:26160208   PMID:26259820   PMID:26682995   PMID:26787298  
PMID:27211696   PMID:27414739   PMID:27554131   PMID:27576167   PMID:27654063   PMID:28174802   PMID:28258217   PMID:28298427   PMID:28330616   PMID:28492956   PMID:28514442   PMID:28664341  
PMID:28730747   PMID:28977211   PMID:29049139   PMID:29398112   PMID:29441581   PMID:29621775   PMID:29709878   PMID:29924134   PMID:30157263   PMID:31723224   PMID:32296183  


Genomics

Candidate Gene Status
HTR2C is a candidate Gene for QTL BW239_H
Comparative Map Data
HTR2C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX114,584,078 - 114,910,061 (+)EnsemblGRCh38hg38GRCh38
GRCh38X114,584,086 - 114,910,061 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X113,818,551 - 114,144,624 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X113,724,807 - 114,050,880 (+)NCBINCBI36hg18NCBI36
Build 34X113,641,530 - 113,967,604NCBI
CeleraX114,253,715 - 114,579,778 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX103,403,272 - 103,731,741 (+)NCBIHuRef
CHM1_1X113,729,484 - 114,055,500 (+)NCBICHM1_1
Htr2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X145,745,509 - 145,980,273 (+)NCBIGRCm39mm39
GRCm39 EnsemblX145,745,509 - 145,980,273 (+)Ensembl
GRCm38X146,962,464 - 147,197,277 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX146,962,513 - 147,197,277 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X143,397,056 - 143,631,820 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X142,208,881 - 142,443,644 (+)NCBImm8
CeleraX130,902,904 - 131,136,225 (+)NCBICelera
Cytogenetic MapXF2NCBI
cM MapX68.46NCBI
Htr2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X110,640,777 - 110,870,288 (+)NCBI
Rnor_6.0 EnsemblX118,084,890 - 118,318,039 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X118,084,520 - 118,318,040 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X118,226,113 - 118,460,830 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X31,012,921 - 31,244,127 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X31,069,048 - 31,185,684 (-)NCBI
CeleraX109,958,913 - 110,179,824 (+)NCBICelera
Cytogenetic MapXq34NCBI
Htr2c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955490910,415 - 1,126,373 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955490912,615 - 1,126,347 (-)NCBIChiLan1.0ChiLan1.0
HTR2C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X114,169,823 - 114,503,179 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX114,199,485 - 114,503,201 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X103,673,172 - 103,999,133 (+)NCBIMhudiblu_PPA_v0panPan3
HTR2C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X87,342,800 - 87,641,224 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX87,342,792 - 87,638,579 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX73,595,073 - 73,759,737 (+)NCBI
ROS_Cfam_1.0X89,055,367 - 89,357,473 (+)NCBI
UMICH_Zoey_3.1X86,633,342 - 86,797,977 (+)NCBI
UNSW_CanFamBas_1.0X88,307,583 - 88,472,268 (+)NCBI
UU_Cfam_GSD_1.0X88,140,047 - 88,305,373 (+)NCBI
Htr2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X86,426,392 - 86,655,882 (+)NCBI
SpeTri2.0NW_0049364991,002,083 - 1,109,446 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HTR2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX94,053,456 - 94,313,356 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X94,053,415 - 94,313,352 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X108,811,549 - 108,871,722 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X108,566,657 - 108,733,261 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HTR2C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X102,190,355 - 102,499,928 (+)NCBI
ChlSab1.1 EnsemblX102,325,731 - 102,497,278 (+)Ensembl
Htr2c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249401,040,744 - 1,299,266 (-)NCBI

Position Markers
AL008908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,050,165 - 114,050,341UniSTSGRCh37
Build 36X113,956,421 - 113,956,597RGDNCBI36
CeleraX114,485,324 - 114,485,500RGD
Cytogenetic MapXq24UniSTS
HuRefX103,637,689 - 103,637,865UniSTS
RH11284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,144,406 - 114,144,545UniSTSGRCh37
Build 36X114,050,662 - 114,050,801RGDNCBI36
CeleraX114,579,560 - 114,579,699RGD
Cytogenetic MapXq24UniSTS
HuRefX103,731,523 - 103,731,662UniSTS
GeneMap99-GB4 RH MapX291.13UniSTS
RH1706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,142,302 - 114,142,497UniSTSGRCh37
Build 36X114,048,558 - 114,048,753RGDNCBI36
CeleraX114,577,456 - 114,577,651RGD
Cytogenetic MapXq24UniSTS
HuRefX103,729,419 - 103,729,614UniSTS
GeneMap99-GB4 RH MapX291.03UniSTS
NCBI RH MapX562.8UniSTS
AL032548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,001,178 - 114,001,324UniSTSGRCh37
Build 36X113,907,434 - 113,907,580RGDNCBI36
CeleraX114,436,337 - 114,436,483RGD
Cytogenetic MapXq24UniSTS
HuRefX103,588,092 - 103,588,238UniSTS
RH121682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X113,918,921 - 113,919,227UniSTSGRCh37
Build 36X113,825,177 - 113,825,483RGDNCBI36
CeleraX114,354,121 - 114,354,427RGD
Cytogenetic MapXq24UniSTS
HuRefX103,505,614 - 103,505,920UniSTS
GDB:603978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X113,965,714 - 113,965,817UniSTSGRCh37
Build 36X113,871,970 - 113,872,073RGDNCBI36
CeleraX114,400,900 - 114,401,003RGD
Cytogenetic MapXq24UniSTS
HuRefX103,552,474 - 103,552,577UniSTS
stdJ788M24T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X113,846,447 - 113,846,581UniSTSGRCh37
Build 36X113,752,703 - 113,752,837RGDNCBI36
CeleraX114,281,616 - 114,281,750RGD
Cytogenetic MapXq24UniSTS
HuRefX103,432,507 - 103,432,641UniSTS
BB315810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,144,456 - 114,144,544UniSTSGRCh37
Build 36X114,050,712 - 114,050,800RGDNCBI36
CeleraX114,579,610 - 114,579,698RGD
HuRefX103,731,573 - 103,731,661UniSTS
HTR2C_347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,143,812 - 114,144,708UniSTSGRCh37
Build 36X114,050,068 - 114,050,964RGDNCBI36
CeleraX114,578,966 - 114,579,862RGD
HuRefX103,730,929 - 103,731,825UniSTS
AL008895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X113,903,266 - 113,903,453UniSTSGRCh37
Build 36X113,809,522 - 113,809,709RGDNCBI36
CeleraX114,338,466 - 114,338,653RGD
Cytogenetic MapXq24UniSTS
AL008896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,030,892 - 114,031,013UniSTSGRCh37
Build 36X113,937,148 - 113,937,269RGDNCBI36
CeleraX114,466,051 - 114,466,172RGD
Cytogenetic MapXq24UniSTS
HuRefX103,618,384 - 103,618,505UniSTS
RH70924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,141,169 - 114,141,333UniSTSGRCh37
Build 36X114,047,425 - 114,047,589RGDNCBI36
CeleraX114,576,323 - 114,576,487RGD
Cytogenetic MapXq24UniSTS
HuRefX103,728,354 - 103,728,518UniSTS
GeneMap99-GB4 RH MapX289.62UniSTS
NCBI RH MapX576.2UniSTS
DXS7598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,143,296 - 114,143,419UniSTSGRCh37
Build 36X114,049,552 - 114,049,675RGDNCBI36
CeleraX114,578,450 - 114,578,573RGD
Cytogenetic MapXq24UniSTS
HuRefX103,730,413 - 103,730,536UniSTS
AL023919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X113,866,707 - 113,866,828UniSTSGRCh37
Build 36X113,772,963 - 113,773,084RGDNCBI36
CeleraX114,301,891 - 114,302,012RGD
Cytogenetic MapXq24UniSTS
HuRefX103,452,547 - 103,452,668UniSTS
AL022533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,042,817 - 114,042,937UniSTSGRCh37
Build 36X113,949,073 - 113,949,193RGDNCBI36
CeleraX114,477,976 - 114,478,096RGD
Cytogenetic MapXq24UniSTS
HuRefX103,630,344 - 103,630,464UniSTS
HTR2C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,082,569 - 114,082,716UniSTSGRCh37
CeleraX114,517,734 - 114,517,881UniSTS
HuRefX103,670,121 - 103,670,268UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4958
Count of miRNA genes:1188
Interacting mature miRNAs:1523
Transcripts:ENST00000276198, ENST00000371950, ENST00000371951
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 7 5 1 1 567 10 3
Low 31 6 74 16 41 17 225 11 1401 41 154 86 4 2 21 2
Below cutoff 484 878 437 151 248 70 1687 591 1476 53 771 446 82 1 309 1310 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY114104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU796454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU796459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU796464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ200493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276198   ⟹   ENSP00000276198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX114,584,086 - 114,910,061 (+)Ensembl
RefSeq Acc Id: ENST00000371950   ⟹   ENSP00000361018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX114,584,082 - 114,910,061 (+)Ensembl
RefSeq Acc Id: ENST00000371951   ⟹   ENSP00000361019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX114,584,078 - 114,908,507 (+)Ensembl
RefSeq Acc Id: NM_000868   ⟹   NP_000859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X114,584,086 - 114,910,061 (+)NCBI
GRCh37X113,818,551 - 114,144,624 (+)ENTREZGENE
Build 36X113,724,807 - 114,050,880 (+)NCBI Archive
HuRefX103,403,272 - 103,731,741 (+)ENTREZGENE
CHM1_1X113,729,484 - 114,055,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256760   ⟹   NP_001243689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X114,584,086 - 114,910,061 (+)NCBI
GRCh37X113,818,551 - 114,144,624 (+)NCBI
HuRefX103,403,272 - 103,731,741 (+)NCBI
CHM1_1X113,729,484 - 114,055,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256761   ⟹   NP_001243690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X114,584,086 - 114,910,061 (+)NCBI
GRCh37X113,818,551 - 114,144,624 (+)NCBI
HuRefX103,403,272 - 103,731,741 (+)NCBI
CHM1_1X113,729,484 - 114,055,500 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000859   ⟸   NM_000868
- Peptide Label: isoform a precursor
- Sequence:
RefSeq Acc Id: NP_001243689   ⟸   NM_001256760
- Peptide Label: isoform a precursor
- Sequence:
RefSeq Acc Id: NP_001243690   ⟸   NM_001256761
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000361018   ⟸   ENST00000371950
RefSeq Acc Id: ENSP00000361019   ⟸   ENST00000371951
RefSeq Acc Id: ENSP00000276198   ⟸   ENST00000276198
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:13627898
Promoter ID:EPDNEW_H29224
Type:initiation region
Name:HTR2C_1
Description:5-hydroxytryptamine receptor 2C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29225  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X114,584,086 - 114,584,146EPDNEW
RGD ID:13627900
Promoter ID:EPDNEW_H29225
Type:initiation region
Name:HTR2C_2
Description:5-hydroxytryptamine receptor 2C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29224  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X114,603,718 - 114,603,778EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000868.3(HTR2C):c.68G>C (p.Cys23Ser) single nucleotide variant SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM [RCV000010563]|not provided [RCV000835770] ChrX:114731326 [GRCh38]
ChrX:113965735 [GRCh37]
ChrX:Xq23
benign
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
NM_000868.3(HTR2C):c.-79-19049T>C single nucleotide variant Lung cancer [RCV000102220] ChrX:114707809 [GRCh38]
ChrX:113942224 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000868.3(HTR2C):c.550+11838A>C single nucleotide variant Lung cancer [RCV000102221] ChrX:114860041 [GRCh38]
ChrX:114094604 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000868.3(HTR2C):c.551-12585G>A single nucleotide variant Lung cancer [RCV000102222] ChrX:114894004 [GRCh38]
ChrX:114128567 [GRCh37]
ChrX:Xq23
uncertain significance
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)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: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:10679-156022206)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-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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 Xp22.33-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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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-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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-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-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
NM_000868.3(HTR2C):c.502C>T (p.Arg168Trp) single nucleotide variant Malignant tumor of prostate [RCV000149007] ChrX:114848155 [GRCh38]
ChrX:114082718 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000868.3(HTR2C):c.551-3008C>G single nucleotide variant antipsychotics response - Toxicity/ADR [RCV000211340]|clozapine response - Toxicity/ADR [RCV000211420]|not specified [RCV000606383]|olanzapine response - Toxicity/ADR [RCV000660776]|risperidone response - Toxicity/ADR [RCV000211204] ChrX:114903581 [GRCh38]
ChrX:114138144 [GRCh37]
ChrX:Xq23
benign|drug response
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)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: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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq23(chrX:112920714-116408703)x0 copy number loss See cases [RCV000139029] ChrX:112920714..116408703 [GRCh38]
ChrX:112163942..115539863 [GRCh37]
ChrX:112050598..115453891 [NCBI36]
ChrX:Xq23
likely 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 Xp22.33-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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
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 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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
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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del deletion Bone mineral density quantitative trait locus 18 [RCV000191154] ChrX:113097589..114931342 [GRCh37]
ChrX:Xq23
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
NM_001256760.2(HTR2C):c.-850C>T single nucleotide variant antipsychotics response - Toxicity/ADR [RCV000417155] ChrX:114584047 [GRCh38]
ChrX:113818520 [GRCh37]
ChrX:Xq23
drug response
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xp22.33-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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq23(chrX:113695049-114123788)x1 copy number loss See cases [RCV000510508] ChrX:113695049..114123788 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24
likely pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq23(chrX:113605343-114234819)x2 copy number gain not provided [RCV000684375] ChrX:113605343..114234819 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq23(chrX:113230049-114020912)x3 copy number gain not provided [RCV000753712] ChrX:113230049..114020912 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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 [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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely 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
NM_000868.3(HTR2C):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV000928009] ChrX:114726956 [GRCh38]
ChrX:113961365 [GRCh37]
ChrX:Xq23
likely benign
NM_001256761.2(HTR2C):c.*26_*28AAG[2] microsatellite not provided [RCV000966118] ChrX:114906906..114906908 [GRCh38]
ChrX:114141469..114141471 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23(chrX:113097589-114931342) copy number loss Bone mineral density quantitative trait locus 18 [RCV000767804] ChrX:113097589..114931342 [GRCh37]
ChrX:Xq23
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_000868.3(HTR2C):c.-697= variation not provided [RCV000835769] ChrX:114584109 [GRCh38]
ChrX:113818582 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000868.3(HTR2C):c.124G>C (p.Asp42His) single nucleotide variant not provided [RCV000914492] ChrX:114731382 [GRCh38]
ChrX:113965791 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23(chrX:113628096-113834541)x2 copy number gain not provided [RCV001007335] ChrX:113628096..113834541 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000868.2:c.1219_1222delTCTG deletion Inborn genetic diseases [RCV001267222] ChrX:114907255..114907258 [GRCh38]
ChrX:114141818..114141821 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5295 AgrOrtholog
COSMIC HTR2C COSMIC
Ensembl Genes ENSG00000147246 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361018 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361019 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371950 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371951 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147246 GTEx
HGNC ID HGNC:5295 ENTREZGENE
Human Proteome Map HTR2C Human Proteome Map
InterPro 5HT2C_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5HT_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3358 UniProtKB/Swiss-Prot
NCBI Gene 3358 ENTREZGENE
OMIM 312861 OMIM
PANTHER PTHR24247:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB HTR2C RGD, PharmGKB
PRINTS 5HT2CRECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5HTRECEPTOR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
UniProt 5HT2C_HUMAN UniProtKB/Swiss-Prot
  B3VRE0_HUMAN UniProtKB/TrEMBL
  B3VRE5_HUMAN UniProtKB/TrEMBL
  B3VRF0_HUMAN UniProtKB/TrEMBL
  B3VRF5_HUMAN UniProtKB/TrEMBL
  K9J958_HUMAN UniProtKB/TrEMBL
  P28335 ENTREZGENE
  Q7Z579_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AMW4 UniProtKB/Swiss-Prot
  Q5VUF8 UniProtKB/Swiss-Prot
  Q9NP28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 HTR2C  5-hydroxytryptamine receptor 2C    5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled  Symbol and/or name change 5135510 APPROVED
2012-03-01 HTR2C  5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled  HTR2C  5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled  Symbol and/or name change 5135510 APPROVED
2012-02-14 HTR2C  5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled  HTR2C  5-hydroxytryptamine (serotonin) receptor 2C  Symbol and/or name change 5135510 APPROVED
2011-08-16 HTR2C  5-hydroxytryptamine (serotonin) receptor 2C  HTR2C  5-hydroxytryptamine (serotonin) receptor 2C  Symbol and/or name change 5135510 APPROVED