LSS (lanosterol synthase) - Rat Genome Database
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Gene: LSS (lanosterol synthase) Homo sapiens
Analyze
Symbol: LSS
Name: lanosterol synthase
RGD ID: 736635
Description: Exhibits lanosterol synthase activity. Involved in cholesterol biosynthetic process and regulation of protein stability. Localizes to endoplasmic reticulum membrane and lipid droplet. Implicated in alopecia-mental retardation syndrome; cataract 44; and hypotrichosis 14.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2,3-epoxysqualene--lanosterol cyclase; 2,3-epoxysqualene-lanosterol cyclase; 2,3-oxidosqualene: lanosterol cyclase; APMR4; CTRCT44; FLJ25486; FLJ35015; FLJ39450; FLJ46393; hOSC; HYPT14; lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); OSC; oxidosqualene--lanosterol cyclase
Orthologs:
Mus musculus (house mouse) : Lss (lanosterol synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Lss (lanosterol synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lss (lanosterol synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : LSS (lanosterol synthase)
Canis lupus familiaris (dog) : LSS (lanosterol synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lss (lanosterol synthase)
Sus scrofa (pig) : LSS (lanosterol synthase)
Chlorocebus sabaeus (African green monkey) : LSS (lanosterol synthase)
Heterocephalus glaber (naked mole-rat) : Lss (lanosterol synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,188,141 - 46,228,824 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,188,446 - 46,228,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,608,360 - 47,648,738 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,432,788 - 46,473,119 (-)NCBINCBI36hg18NCBI36
Build 342146,433,466 - 46,473,119NCBI
Celera2132,720,748 - 32,761,140 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,990,213 - 33,031,026 (-)NCBIHuRef
CHM1_12147,167,889 - 47,208,226 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (EXP)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
amiodarone  (EXP,ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimony(0)  (EXP)
arachidonic acid  (EXP)
Aroclor 1254  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpromazine  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clarithromycin  (EXP)
clofibric acid  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
dexamethasone  (ISO)
diazinon  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
doxepin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
erythromycin A  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
flecainide  (EXP)
fluoranthene  (ISO)
fluoxetine  (EXP)
flusilazole  (ISO)
flutamide  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexaconazole  (ISO)
hydroquinone  (EXP)
imipramine  (EXP)
indometacin  (ISO)
isoflavones  (EXP)
ketoconazole  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
Loratadine  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
methyltestosterone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
obeticholic acid  (EXP)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentamidine  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (EXP)
phenobarbital  (ISO)
phenylpropanolamine  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
sertraline  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sotalol  (EXP)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioridazine  (EXP)
titanium dioxide  (ISO)
triacsin C  (EXP)
triadimefon  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
vitamin K  (ISO)
vorinostat  (EXP)
yohimbine  (ISO)
zaragozic acid A  (ISO)
zimeldine  (EXP)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:3515096   PMID:7639730   PMID:8593458   PMID:8655142   PMID:8820110   PMID:8889548   PMID:9763219   PMID:10598817   PMID:10830953   PMID:11421484   PMID:12477932   PMID:14702039  
PMID:14741744   PMID:14766201   PMID:15489334   PMID:15525992   PMID:15790807   PMID:16344560   PMID:16806233   PMID:17186944   PMID:17255364   PMID:18660489   PMID:19119143   PMID:19913121  
PMID:19946888   PMID:20379614   PMID:20628086   PMID:21498505   PMID:21873635   PMID:21988832   PMID:25051231   PMID:25921289   PMID:26186194   PMID:26200341   PMID:26496610   PMID:26667413  
PMID:26673895   PMID:28298427   PMID:28514442   PMID:28611215   PMID:29016354   PMID:29180619   PMID:30401459   PMID:30723320   PMID:30745168   PMID:30923116   PMID:31073040   PMID:31322293  
PMID:31536960   PMID:32101538   PMID:32296183   PMID:32694731   PMID:33001583  


Genomics

Comparative Map Data
LSS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,188,141 - 46,228,824 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,188,446 - 46,228,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,608,360 - 47,648,738 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,432,788 - 46,473,119 (-)NCBINCBI36hg18NCBI36
Build 342146,433,466 - 46,473,119NCBI
Celera2132,720,748 - 32,761,140 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,990,213 - 33,031,026 (-)NCBIHuRef
CHM1_12147,167,889 - 47,208,226 (-)NCBICHM1_1
Lss
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,367,303 - 76,392,973 (+)NCBI
GRCm381076,531,565 - 76,557,139 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,531,588 - 76,557,138 (+)EnsemblGRCm38mm10GRCm38
MGSCv371075,994,372 - 76,016,679 (+)NCBIGRCm37mm9NCBIm37
MGSCv361075,975,343 - 75,997,650 (+)NCBImm8
Celera1077,576,142 - 77,598,449 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.1NCBI
Lss
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,844,522 - 12,870,474 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,842,884 - 12,870,497 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,337,114 - 15,338,473 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02015,000,298 - 15,027,581 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,507,575 - 12,534,612 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12012,507,801 - 12,534,839 (-)NCBI
Celera2013,590,952 - 13,616,816 (-)NCBICelera
Cytogenetic Map20p12NCBI
Lss
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,633,658 - 42,653,399 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,633,658 - 42,653,399 (-)NCBIChiLan1.0ChiLan1.0
LSS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,787,252 - 45,822,181 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,787,252 - 45,822,181 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,535,564 - 32,571,379 (-)NCBIMhudiblu_PPA_v0panPan3
LSS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,480,581 - 39,503,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,479,255 - 39,502,439 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Lss
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778323,120 - 351,100 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LSS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,517,444 - 218,539,989 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LSS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl289,811,698 - 89,846,242 (-)Ensembl
ChlSab1.1289,809,065 - 89,846,295 (-)NCBI
Lss
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474531,301,648 - 31,325,283 (-)NCBI

Position Markers
RH78361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,608,432 - 47,608,559UniSTSGRCh37
Build 362146,432,860 - 46,432,987RGDNCBI36
Celera2132,720,820 - 32,720,947RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,990,285 - 32,990,412UniSTS
GeneMap99-GB4 RH Map21254.42UniSTS
NCBI RH Map21407.7UniSTS
SHGC-87729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,609,148 - 47,609,330UniSTSGRCh37
Build 362146,433,576 - 46,433,758RGDNCBI36
Celera2132,721,536 - 32,721,718RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,991,001 - 32,991,183UniSTS
TNG Radiation Hybrid Map2119899.0UniSTS
GeneMap99-GB4 RH Map21256.8UniSTS
NCBI RH Map21407.7UniSTS
SHGC-58604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,618,512 - 47,618,655UniSTSGRCh37
Build 362146,442,940 - 46,443,083RGDNCBI36
Celera2132,730,899 - 32,731,042RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,000,364 - 33,000,507UniSTS
SHGC-144587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,647,049 - 47,647,393UniSTSGRCh37
Build 362146,471,477 - 46,471,821RGDNCBI36
Celera2132,759,451 - 32,759,795RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,029,337 - 33,029,681UniSTS
TNG Radiation Hybrid Map2119930.0UniSTS
STS_CEB254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,640,569 - 47,641,224UniSTSGRCh37
Build 362146,464,997 - 46,465,652RGDNCBI36
Celera2132,752,969 - 32,753,624RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,022,855 - 33,023,510UniSTS
SHGC-87723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,608,481 - 47,608,681UniSTSGRCh37
Build 362146,432,909 - 46,433,109RGDNCBI36
Celera2132,720,869 - 32,721,069RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,990,334 - 32,990,534UniSTS
TNG Radiation Hybrid Map2119899.0UniSTS
GeneMap99-GB4 RH Map21253.7UniSTS
Whitehead-RH Map21247.0UniSTS
NCBI RH Map21407.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4574
Count of miRNA genes:1122
Interacting mature miRNAs:1400
Transcripts:ENST00000356396, ENST00000397728, ENST00000419093, ENST00000450351, ENST00000457828, ENST00000464357, ENST00000472272, ENST00000474319, ENST00000484808, ENST00000491729, ENST00000522411
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 pharyngeal arch
High
Medium 2423 2210 1672 578 1252 418 4340 2094 3667 275 1444 1600 175 1 1204 2774 6 2
Low 16 777 54 46 694 47 17 103 67 144 16 13 14
Below cutoff 4 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA922470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM662957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU728696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX443698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA333499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN121355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB965870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB966073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD023280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD023483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356396   ⟹   ENSP00000348762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,188,141 - 46,228,822 (-)Ensembl
RefSeq Acc Id: ENST00000397728   ⟹   ENSP00000380837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,188,446 - 46,228,774 (-)Ensembl
RefSeq Acc Id: ENST00000419093   ⟹   ENSP00000410678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,188,474 - 46,194,580 (-)Ensembl
RefSeq Acc Id: ENST00000450351   ⟹   ENSP00000391368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,216,389 - 46,228,768 (-)Ensembl
RefSeq Acc Id: ENST00000457828   ⟹   ENSP00000409191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,189,124 - 46,228,824 (-)Ensembl
RefSeq Acc Id: ENST00000464357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,215,685 - 46,228,762 (-)Ensembl
RefSeq Acc Id: ENST00000472272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,227,319 - 46,228,774 (-)Ensembl
RefSeq Acc Id: ENST00000474319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,189,125 - 46,193,370 (-)Ensembl
RefSeq Acc Id: ENST00000484808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,195,676 - 46,196,371 (-)Ensembl
RefSeq Acc Id: ENST00000491729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,188,446 - 46,193,487 (-)Ensembl
RefSeq Acc Id: ENST00000522411   ⟹   ENSP00000429133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,190,783 - 46,228,781 (-)Ensembl
RefSeq Acc Id: NM_001001438   ⟹   NP_001001438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
Build 362146,432,788 - 46,473,119 (-)NCBI Archive
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,167,889 - 47,208,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145436   ⟹   NP_001138908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145437   ⟹   NP_001138909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002340   ⟹   NP_002331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
Build 362146,433,467 - 46,473,119 (-)NCBI Archive
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001001438   ⟸   NM_001001438
- Peptide Label: isoform 1
- UniProtKB: P48449 (UniProtKB/Swiss-Prot),   B2R694 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138908   ⟸   NM_001145436
- Peptide Label: isoform 2
- UniProtKB: P48449 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002331   ⟸   NM_002340
- Peptide Label: isoform 1
- UniProtKB: P48449 (UniProtKB/Swiss-Prot),   B2R694 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138909   ⟸   NM_001145437
- Peptide Label: isoform 3
- UniProtKB: P48449 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000391368   ⟸   ENST00000450351
RefSeq Acc Id: ENSP00000409191   ⟸   ENST00000457828
RefSeq Acc Id: ENSP00000429133   ⟸   ENST00000522411
RefSeq Acc Id: ENSP00000410678   ⟸   ENST00000419093
RefSeq Acc Id: ENSP00000348762   ⟸   ENST00000356396
RefSeq Acc Id: ENSP00000380837   ⟸   ENST00000397728
Protein Domains
SQHop_cyclase_C   SQHop_cyclase_N

Promoters
RGD ID:13603086
Promoter ID:EPDNEW_H27727
Type:initiation region
Name:LSS_1
Description:lanosterol synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,228,764 - 46,228,824EPDNEW
RGD ID:6799479
Promoter ID:HG_KWN:41293
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000207275,   OTTHUMT00000207276
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,436,356 - 46,438,577 (-)MPROMDB
RGD ID:6799483
Promoter ID:HG_KWN:41294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000207280
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,438,806 - 46,439,306 (-)MPROMDB
RGD ID:6799497
Promoter ID:HG_KWN:41297
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145436,   NM_001145437,   NM_002340,   OTTHUMT00000207273,   OTTHUMT00000207277,   OTTHUMT00000207278,   OTTHUMT00000207279,   OTTHUMT00000207294,   OTTHUMT00000207295,   OTTHUMT00000207296,   OTTHUMT00000207297,   OTTHUMT00000207298,   OTTHUMT00000207299
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,472,101 - 46,474,602 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser) single nucleotide variant Cataract 44 [RCV000206988] Chr21:46195731 [GRCh38]
Chr21:47615645 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.1741T>C (p.Trp581Arg) single nucleotide variant Cataract 44 [RCV000207005] Chr21:46195752 [GRCh38]
Chr21:47615666 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x4 copy number gain See cases [RCV000511854] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x3 copy number gain See cases [RCV000512553] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_002340.6(LSS):c.1887G>T (p.Trp629Cys) single nucleotide variant Cataract 44 [RCV000735948] Chr21:46194592 [GRCh38]
Chr21:47614506 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.743T>C (p.Leu248Pro) single nucleotide variant HYPOTRICHOSIS 14 [RCV000735950] Chr21:46216429 [GRCh38]
Chr21:47636343 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.304C>G (p.Leu102Val) single nucleotide variant HYPOTRICHOSIS 14 [RCV000735951] Chr21:46227567 [GRCh38]
Chr21:47647481 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.1172T>C (p.Phe391Ser) single nucleotide variant HYPOTRICHOSIS 14 [RCV000735949] Chr21:46210710 [GRCh38]
Chr21:47630624 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.625A>T (p.Asn209Tyr) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV000735953] Chr21:46219498 [GRCh38]
Chr21:47639412 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.1025T>G (p.Ile342Ser) single nucleotide variant Cataract 44 [RCV000735947] Chr21:46213822 [GRCh38]
Chr21:47633736 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.423G>A (p.Trp141Ter) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV000735952] Chr21:46222635 [GRCh38]
Chr21:47642549 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47589136-47610085)x1 copy number loss not provided [RCV000741654] Chr21:47589136..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47610305)x1 copy number loss not provided [RCV000741655] Chr21:47589136..47610305 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47610415)x1 copy number loss not provided [RCV000741656] Chr21:47589136..47610415 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47657673)x1 copy number loss not provided [RCV000741657] Chr21:47589136..47657673 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589156-47610305)x1 copy number loss not provided [RCV000741658] Chr21:47589156..47610305 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47610066)x1 copy number loss not provided [RCV000741659] Chr21:47589277..47610066 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47610085)x1 copy number loss not provided [RCV000741660] Chr21:47589277..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47658301)x1 copy number loss not provided [RCV000741661] Chr21:47589277..47658301 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589429-47610085)x1 copy number loss not provided [RCV000741662] Chr21:47589429..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589581-47610085)x1 copy number loss not provided [RCV000741663] Chr21:47589581..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589826-47681041)x1 copy number loss not provided [RCV000741664] Chr21:47589826..47681041 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603387-47610085)x1 copy number loss not provided [RCV000741665] Chr21:47603387..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603387-47658404)x1 copy number loss not provided [RCV000741666] Chr21:47603387..47658404 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603423-47610085)x1 copy number loss not provided [RCV000741667] Chr21:47603423..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47609731-47610939)x1 copy number loss not provided [RCV000741668] Chr21:47609731..47610939 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_002340.6(LSS):c.846C>T (p.Pro282=) single nucleotide variant not provided [RCV000949859] Chr21:46215731 [GRCh38]
Chr21:47635645 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.1865G>A (p.Arg622Gln) single nucleotide variant not provided [RCV000965494] Chr21:46194614 [GRCh38]
Chr21:47614528 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV000905795] Chr21:46215772 [GRCh38]
Chr21:47635686 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.1788C>T (p.Phe596=) single nucleotide variant not provided [RCV000948107] Chr21:46195705 [GRCh38]
Chr21:47615619 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_002340.6(LSS):c.2114C>A (p.Thr705Lys) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001034700] Chr21:46191189 [GRCh38]
Chr21:47611103 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.779G>C (p.Arg260Pro) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001034701] Chr21:46216393 [GRCh38]
Chr21:47636307 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.1194+5G>A single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001034702] Chr21:46210683 [GRCh38]
Chr21:47630597 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.35G>A (p.Gly12Asp) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001034703] Chr21:46228579 [GRCh38]
Chr21:47648493 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_002340.6(LSS):c.1710G>A (p.Gln570=) single nucleotide variant not provided [RCV000923594] Chr21:46196228 [GRCh38]
Chr21:47616142 [GRCh37]
Chr21:21q22.3
likely benign
NM_002340.6(LSS):c.712C>T (p.Leu238=) single nucleotide variant not provided [RCV000899746] Chr21:46216460 [GRCh38]
Chr21:47636374 [GRCh37]
Chr21:21q22.3
likely benign
NM_002340.6(LSS):c.92G>A (p.Arg31Lys) single nucleotide variant not provided [RCV000894496] Chr21:46228522 [GRCh38]
Chr21:47648436 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.363C>T (p.Ala121=) single nucleotide variant not provided [RCV000836753] Chr21:46222695 [GRCh38]
Chr21:47642609 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.524G>A (p.Arg175Gln) single nucleotide variant not provided [RCV000836754] Chr21:46221880 [GRCh38]
Chr21:47641794 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.929A>G (p.His310Arg) single nucleotide variant not provided [RCV000836755] Chr21:46215262 [GRCh38]
Chr21:47635176 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.2063C>T (p.Pro688Leu) single nucleotide variant not provided [RCV000827453] Chr21:46191885 [GRCh38]
Chr21:47611799 [GRCh37]
Chr21:21q22.3
likely benign
NM_002340.6(LSS):c.1138-4G>T single nucleotide variant not provided [RCV000841403] Chr21:46210748 [GRCh38]
Chr21:47630662 [GRCh37]
Chr21:21q22.3
likely benign
NM_002340.6(LSS):c.551-6G>C single nucleotide variant not provided [RCV000836680] Chr21:46219578 [GRCh38]
Chr21:47639492 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.784-6C>T single nucleotide variant not provided [RCV000836681] Chr21:46215799 [GRCh38]
Chr21:47635713 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.864G>C (p.Pro288=) single nucleotide variant not provided [RCV000836682] Chr21:46215713 [GRCh38]
Chr21:47635627 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) single nucleotide variant not provided [RCV000836683] Chr21:46194555 [GRCh38]
Chr21:47614469 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.1950T>C (p.His650=) single nucleotide variant not provided [RCV000836684] Chr21:46194529 [GRCh38]
Chr21:47614443 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_002340.6(LSS):c.752C>T (p.Ala251Val) single nucleotide variant not provided [RCV000965495] Chr21:46216420 [GRCh38]
Chr21:47636334 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV000896080] Chr21:46215717 [GRCh38]
Chr21:47635631 [GRCh37]
Chr21:21q22.3
benign
NM_002340.6(LSS):c.1548C>T (p.Asn516=) single nucleotide variant not provided [RCV000955593] Chr21:46206688 [GRCh38]
Chr21:47626602 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_002340.6(LSS):c.1547A>G (p.Asn516Ser) single nucleotide variant ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001034699] Chr21:46206689 [GRCh38]
Chr21:47626603 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NM_001145436.1:c.1076+2T>C variation ALOPECIA-MENTAL RETARDATION SYNDROME 4 [RCV001261953]   pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3 copy number gain not provided [RCV001259417] Chr21:47279953..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6708 AgrOrtholog
COSMIC LSS COSMIC
Ensembl Genes ENSG00000160285 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281289 UniProtKB/TrEMBL
Ensembl Protein ENSP00000348762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380837 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391368 UniProtKB/TrEMBL
  ENSP00000409191 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410678 UniProtKB/TrEMBL
  ENSP00000429133 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485757 UniProtKB/TrEMBL
  ENSP00000486113 UniProtKB/TrEMBL
  ENSP00000487109 UniProtKB/TrEMBL
  ENSP00000487196 UniProtKB/TrEMBL
  ENSP00000487418 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419093 UniProtKB/TrEMBL
  ENST00000450351 UniProtKB/TrEMBL
  ENST00000457828 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522411 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000625576 UniProtKB/TrEMBL
  ENST00000625922 UniProtKB/TrEMBL
  ENST00000627118 UniProtKB/TrEMBL
  ENST00000630343 UniProtKB/TrEMBL
  ENST00000630761 UniProtKB/TrEMBL
GTEx ENSG00000160285 GTEx
  ENSG00000281289 GTEx
HGNC ID HGNC:6708 ENTREZGENE
Human Proteome Map LSS Human Proteome Map
InterPro SQ_cyclase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SQ_cyclase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Squalene_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpene_synthase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4047 ENTREZGENE
OMIM 600909 OMIM
  616509 OMIM
  618275 OMIM
  618840 OMIM
Pfam SQHop_cyclase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SQHop_cyclase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30473 PharmGKB
PROSITE TERPENE_SYNTHASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs squalene_cyclas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.596543 ENTREZGENE
UniProt A0A0G2JQD0_HUMAN UniProtKB/TrEMBL
  A0A0G2JS81_HUMAN UniProtKB/TrEMBL
  B2R694 ENTREZGENE, UniProtKB/TrEMBL
  C9J315_HUMAN UniProtKB/TrEMBL
  ERG7_HUMAN UniProtKB/Swiss-Prot
  H7C3A5_HUMAN UniProtKB/TrEMBL
  P48449 ENTREZGENE
UniProt Secondary B4DJZ9 UniProtKB/Swiss-Prot
  D3DSN0 UniProtKB/Swiss-Prot
  E9PEI9 UniProtKB/Swiss-Prot
  G5E9Q9 UniProtKB/Swiss-Prot
  Q8IYL6 UniProtKB/Swiss-Prot
  Q9UEZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 LSS  lanosterol synthase    lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)  Symbol and/or name change 5135510 APPROVED
2011-08-17 LSS  lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)  LSS  lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)  Symbol and/or name change 5135510 APPROVED