MSN (moesin) - Rat Genome Database

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Gene: MSN (moesin) Homo sapiens
Analyze
Symbol: MSN
Name: moesin
RGD ID: 732547
HGNC Page HGNC
Description: Exhibits several functions, including cell adhesion molecule binding activity; double-stranded RNA binding activity; and protein kinase binding activity. Involved in several processes, including cellular response to testosterone stimulus; epithelial cell differentiation; and positive regulation of macromolecule metabolic process. Localizes to several cellular components, including apical plasma membrane; microvillus; and pseudopodium. Colocalizes with focal adhesion. Implicated in immunodeficiency 50.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis luminal protein 70; HEL70; IMD50; membrane-organizing extension spike protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MSNP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX65,588,377 - 65,741,931 (+)EnsemblGRCh38hg38GRCh38
GRCh38X65,588,382 - 65,741,931 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,887,521 - 64,961,793 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,804,236 - 64,878,518 (+)NCBINCBI36hg18NCBI36
Build 34X64,670,531 - 64,744,813NCBI
CeleraX65,234,645 - 65,308,924 (+)NCBI
Cytogenetic MapXq12NCBI
HuRefX58,715,854 - 58,790,104 (+)NCBIHuRef
CHM1_1X64,780,526 - 64,854,813 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (EXP)
carbonyl sulfide  (ISO)
carvedilol  (ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fructose  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
heparin  (ISO)
hydrogen peroxide  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methapyrilene  (EXP,ISO)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
naphthalene  (ISO)
nitric oxide  (ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phosgene  (ISO)
quercitrin  (EXP)
razoxane  (ISO)
rotenone  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sorafenib  (ISO)
sunitinib  (EXP)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
tributylstannane  (EXP)
Tributyltin oxide  (ISO)
triphenylstannane  (EXP)
troglitazone  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
Y-27632  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

Additional References at PubMed
PMID:1924289   PMID:7579708   PMID:7588875   PMID:7628534   PMID:7844168   PMID:7884872   PMID:8188263   PMID:8248180   PMID:8259662   PMID:8537411   PMID:8892894   PMID:9013673  
PMID:9213396   PMID:9298994   PMID:9314537   PMID:9330869   PMID:9430655   PMID:9472040   PMID:9516463   PMID:9616160   PMID:9856983   PMID:9918767   PMID:10436021   PMID:10480873  
PMID:10751793   PMID:10806479   PMID:10847681   PMID:11310834   PMID:11441066   PMID:11706008   PMID:11716484   PMID:11717582   PMID:11784723   PMID:12070130   PMID:12082081   PMID:12111362  
PMID:12115638   PMID:12226091   PMID:12360288   PMID:12385025   PMID:12387735   PMID:12477932   PMID:12519789   PMID:12594175   PMID:12665801   PMID:12734202   PMID:12787041   PMID:12850829  
PMID:14760079   PMID:15020681   PMID:15039356   PMID:15096511   PMID:15146197   PMID:15149851   PMID:15166166   PMID:15178693   PMID:15252013   PMID:15489334   PMID:15659383   PMID:15772651  
PMID:15818415   PMID:15819698   PMID:15922359   PMID:16009940   PMID:16130169   PMID:16502470   PMID:16791210   PMID:16889625   PMID:16908865   PMID:16916647   PMID:16938849   PMID:17046996  
PMID:17110458   PMID:17170707   PMID:17237445   PMID:17349711   PMID:17353931   PMID:17515952   PMID:17594689   PMID:18029348   PMID:18295815   PMID:18586956   PMID:18941185   PMID:19047065  
PMID:19056867   PMID:19066282   PMID:19124745   PMID:19129194   PMID:19152423   PMID:19190083   PMID:19199708   PMID:19255442   PMID:19322201   PMID:19432821   PMID:19460752   PMID:19555429  
PMID:19723803   PMID:19738201   PMID:19830727   PMID:19890007   PMID:19965872   PMID:20000738   PMID:20376899   PMID:20429915   PMID:20458337   PMID:20546116   PMID:20642453   PMID:20679347  
PMID:20804422   PMID:20855527   PMID:21044950   PMID:21148287   PMID:21266579   PMID:21278069   PMID:21278261   PMID:21282464   PMID:21319273   PMID:21352885   PMID:21362503   PMID:21423176  
PMID:21486194   PMID:21549406   PMID:21659656   PMID:21837648   PMID:21864676   PMID:21988832   PMID:22031288   PMID:22076435   PMID:22132106   PMID:22177047   PMID:22190034   PMID:22251897  
PMID:22266319   PMID:22291017   PMID:22363216   PMID:22433855   PMID:22439598   PMID:22467863   PMID:22516433   PMID:22586326   PMID:22623428   PMID:22685202   PMID:22863883   PMID:22891241  
PMID:22939629   PMID:22952686   PMID:23116763   PMID:23221384   PMID:23241358   PMID:23264465   PMID:23315217   PMID:23326330   PMID:23414517   PMID:23420497   PMID:23463506   PMID:23533145  
PMID:23602568   PMID:23703860   PMID:23729486   PMID:23796515   PMID:23855374   PMID:23889297   PMID:24037528   PMID:24065547   PMID:24127566   PMID:24351927   PMID:24695735   PMID:24698421  
PMID:24760896   PMID:24788249   PMID:24794857   PMID:24862762   PMID:24891603   PMID:24904275   PMID:24999758   PMID:25009464   PMID:25010044   PMID:25286001   PMID:25299115   PMID:25406076  
PMID:25450970   PMID:25486435   PMID:25575591   PMID:25601651   PMID:25659154   PMID:25775275   PMID:25947626   PMID:25963833   PMID:26186194   PMID:26194050   PMID:26209609   PMID:26209696  
PMID:26344197   PMID:26496610   PMID:26555866   PMID:26618866   PMID:26641092   PMID:26824392   PMID:26956714   PMID:27042764   PMID:27130522   PMID:27342126   PMID:27357661   PMID:27405666  
PMID:27462432   PMID:27751915   PMID:27793041   PMID:28082118   PMID:28129474   PMID:28233586   PMID:28302793   PMID:28473293   PMID:28476784   PMID:28514442   PMID:28515276   PMID:28529643  
PMID:28624994   PMID:28889652   PMID:28933253   PMID:28986522   PMID:29310601   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29715096   PMID:29777033   PMID:29848673   PMID:30026327  
PMID:30165197   PMID:30196744   PMID:30442766   PMID:30585588   PMID:30699358   PMID:30711629   PMID:30737378   PMID:30809309   PMID:31018575   PMID:31046837   PMID:31300519   PMID:31586073  
PMID:31843195   PMID:31980649   PMID:31985874   PMID:32098334   PMID:32160548   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32780723  


Genomics

Comparative Map Data
MSN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX65,588,377 - 65,741,931 (+)EnsemblGRCh38hg38GRCh38
GRCh38X65,588,382 - 65,741,931 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,887,521 - 64,961,793 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,804,236 - 64,878,518 (+)NCBINCBI36hg18NCBI36
Build 34X64,670,531 - 64,744,813NCBI
CeleraX65,234,645 - 65,308,924 (+)NCBI
Cytogenetic MapXq12NCBI
HuRefX58,715,854 - 58,790,104 (+)NCBIHuRef
CHM1_1X64,780,526 - 64,854,813 (+)NCBICHM1_1
Msn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X95,139,651 - 95,212,159 (+)NCBIGRCm39mm39
GRCm39 EnsemblX95,139,648 - 95,212,158 (+)Ensembl
GRCm38X96,096,045 - 96,168,553 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX96,096,042 - 96,168,552 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X93,291,384 - 93,363,892 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X92,298,764 - 92,371,272 (+)NCBImm8
MGSCv36X78,937,756 - 79,010,624 (+)NCBImm8
CeleraX83,101,832 - 83,174,019 (+)NCBICelera
Cytogenetic MapXC3NCBI
Msn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X60,996,043 - 61,064,011 (+)NCBI
Rnor_6.0 EnsemblX65,226,748 - 65,295,810 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X65,226,834 - 65,294,192 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X66,068,480 - 66,135,838 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X83,716,068 - 83,784,214 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X83,789,359 - 83,857,506 (+)NCBI
CeleraX61,409,205 - 61,477,230 (+)NCBICelera
Cytogenetic MapXq22NCBI
Msn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,301,910 - 5,370,691 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554755,301,856 - 5,370,378 (+)NCBIChiLan1.0ChiLan1.0
MSN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X64,859,691 - 64,933,014 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX64,781,550 - 64,933,292 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X54,785,309 - 54,859,364 (+)NCBIMhudiblu_PPA_v0panPan3
MSN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,708,913 - 50,775,404 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,708,704 - 50,773,762 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX41,546,746 - 41,613,249 (+)NCBI
ROS_Cfam_1.0X51,673,014 - 51,739,539 (+)NCBI
UMICH_Zoey_3.1X49,637,614 - 49,704,123 (+)NCBI
UNSW_CanFamBas_1.0X50,985,533 - 51,052,067 (+)NCBI
UU_Cfam_GSD_1.0X50,900,835 - 50,967,356 (+)NCBI
Msn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,624,794 - 51,696,281 (-)NCBI
SpeTri2.0NW_0049366352,390,390 - 2,461,870 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX51,844,112 - 51,968,850 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X51,844,197 - 51,967,674 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,473,234 - 58,596,676 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MSN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X55,660,262 - 55,734,605 (+)NCBI
ChlSab1.1 EnsemblX55,660,234 - 55,735,191 (+)Ensembl
Vero_WHO_p1.0NW_0236660832,953,269 - 3,027,796 (+)NCBI
Msn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248981,525,795 - 1,601,402 (-)NCBI

Position Markers
DXS8029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,942,062 - 64,942,329UniSTSGRCh37
Build 36X64,858,787 - 64,859,054RGDNCBI36
CeleraX65,289,193 - 65,289,460RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,770,373 - 58,770,640UniSTS
Marshfield Genetic MapX52.5UniSTS
Marshfield Genetic MapX52.5RGD
Genethon Genetic MapX87.5UniSTS
deCODE Assembly MapX80.01UniSTS
SHGC-60194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,889,454 - 64,889,544UniSTSGRCh37
Build 36X64,806,179 - 64,806,269RGDNCBI36
CeleraX65,236,588 - 65,236,678RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,717,797 - 58,717,887UniSTS
SGC30148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,961,645 - 64,961,794UniSTSGRCh37
Build 36X64,878,370 - 64,878,519RGDNCBI36
CeleraX65,308,776 - 65,308,925RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,789,956 - 58,790,105UniSTS
GeneMap99-GB4 RH MapX213.18UniSTS
Whitehead-RH MapX146.4UniSTS
RH41126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,961,635 - 64,961,756UniSTSGRCh37
GRCh37525,913,233 - 25,913,354UniSTSGRCh37
Build 36X64,878,360 - 64,878,481RGDNCBI36
CeleraX65,308,766 - 65,308,887RGD
Celera525,798,959 - 25,799,080UniSTS
Cytogenetic Map5p14.1UniSTS
Cytogenetic MapXq11.1UniSTS
HuRefX58,789,946 - 58,790,067UniSTS
HuRef525,879,683 - 25,879,804UniSTS
DXS1117E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,959,792 - 64,959,884UniSTSGRCh37
GRCh37X64,959,798 - 64,959,882UniSTSGRCh37
Build 36X64,876,523 - 64,876,607RGDNCBI36
CeleraX65,306,929 - 65,307,013RGD
CeleraX65,306,923 - 65,307,015UniSTS
Cytogenetic MapXq11.1UniSTS
HuRefX58,788,109 - 58,788,193UniSTS
HuRefX58,788,103 - 58,788,195UniSTS
D0S17715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,961,529 - 64,961,661UniSTSGRCh37
GRCh37525,913,120 - 25,913,259UniSTSGRCh37
Build 36X64,878,254 - 64,878,386RGDNCBI36
CeleraX65,308,660 - 65,308,792RGD
Celera525,798,846 - 25,798,985UniSTS
Cytogenetic Map5p14.1UniSTS
Cytogenetic MapXq11.1UniSTS
HuRefX58,789,840 - 58,789,972UniSTS
HuRef525,879,570 - 25,879,709UniSTS
DXS7588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,959,798 - 64,959,881UniSTSGRCh37
Build 36X64,876,523 - 64,876,606RGDNCBI36
CeleraX65,306,929 - 65,307,012RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,788,109 - 58,788,192UniSTS
DXS7086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,907,339 - 64,907,490UniSTSGRCh37
Build 36X64,824,064 - 64,824,215RGDNCBI36
CeleraX65,254,471 - 65,254,622RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,736,106 - 58,736,257UniSTS
WI-9169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,960,079 - 64,960,206UniSTSGRCh37
Build 36X64,876,804 - 64,876,931RGDNCBI36
CeleraX65,307,210 - 65,307,337RGD
Cytogenetic MapXq11.1UniSTS
HuRefX58,788,390 - 58,788,517UniSTS
Whitehead-YAC Contig Map5 UniSTS
MSN  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,949,310 - 64,949,466UniSTSGRCh37
GRCh37525,909,815 - 25,909,975UniSTSGRCh37
CeleraX65,296,441 - 65,296,597UniSTS
Celera525,795,541 - 25,795,701UniSTS
HuRef525,876,265 - 25,876,425UniSTS
HuRefX58,777,621 - 58,777,777UniSTS
DXS1117E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq11.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Chsa-miR-200c-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCR//WeFunctional MTI21501518

Predicted Target Of
Summary Value
Count of predictions:2295
Count of miRNA genes:1097
Interacting mature miRNAs:1309
Transcripts:ENST00000360270, ENST00000609205, ENST00000609672
Prediction methods:Miranda, Pita, 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 1 3 4 3 12 3 5 1 9 12 16 1 1
Medium 2363 2975 1688 588 1936 428 4345 2181 3567 414 1413 1559 169 1204 2783 2
Low 35 13 29 29 2 30 6 14 132 5 32 24 3 4 2 1
Below cutoff 31 4 2 3 19 2 12 2 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK297165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN386296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360270   ⟹   ENSP00000353408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,667,654 - 65,741,931 (+)Ensembl
RefSeq Acc Id: ENST00000429601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,588,398 - 65,600,750 (+)Ensembl
RefSeq Acc Id: ENST00000439474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,588,381 - 65,589,769 (+)Ensembl
RefSeq Acc Id: ENST00000447323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,588,404 - 65,593,425 (+)Ensembl
RefSeq Acc Id: ENST00000609205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,588,381 - 65,625,865 (+)Ensembl
RefSeq Acc Id: ENST00000609672   ⟹   ENSP00000477441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,588,377 - 65,729,589 (+)Ensembl
RefSeq Acc Id: NM_002444   ⟹   NP_002435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,667,654 - 65,741,931 (+)NCBI
GRCh37X64,808,257 - 64,961,793 (+)NCBI
Build 36X64,804,236 - 64,878,518 (+)NCBI Archive
HuRefX58,715,854 - 58,790,104 (+)ENTREZGENE
CHM1_1X64,780,526 - 64,854,813 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262269   ⟹   XP_005262326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,588,382 - 65,741,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530959   ⟹   XP_011529261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,588,943 - 65,741,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029545   ⟹   XP_016885034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,667,735 - 65,741,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029546   ⟹   XP_016885035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,667,640 - 65,741,931 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002435   ⟸   NM_002444
- UniProtKB: P26038 (UniProtKB/Swiss-Prot),   V9HWC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262326   ⟸   XM_005262269
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529261   ⟸   XM_011530959
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885035   ⟸   XM_017029546
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885034   ⟸   XM_017029545
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000477441   ⟸   ENST00000609672
RefSeq Acc Id: ENSP00000353408   ⟸   ENST00000360270
Protein Domains
FERM

Promoters
RGD ID:6809059
Promoter ID:HG_KWN:67064
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002444
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,804,234 - 64,804,734 (+)MPROMDB
RGD ID:6852446
Promoter ID:EP74032
Type:initiation region
Name:HS_MSN
Description:Moesin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,804,264 - 64,804,324EPD
RGD ID:6808728
Promoter ID:HG_KWN:67065
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000396084
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,853,041 - 64,853,541 (+)MPROMDB
RGD ID:6809062
Promoter ID:HG_KWN:67066
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056982
Position:
Human AssemblyChrPosition (strand)Source
Build 36X64,872,641 - 64,873,912 (+)MPROMDB
RGD ID:13627311
Promoter ID:EPDNEW_H28934
Type:initiation region
Name:MSN_2
Description:moesin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28935  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,588,377 - 65,588,437EPDNEW
RGD ID:13627317
Promoter ID:EPDNEW_H28935
Type:initiation region
Name:MSN_1
Description:moesin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28934  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,667,654 - 65,667,714EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
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: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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-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
NC_000023.11:g.65595493T>G single nucleotide variant Lung cancer [RCV000102711] ChrX:65595493 [GRCh38]
ChrX:64815373 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.2-12(chrX:64829717-65696211)x3 copy number gain See cases [RCV000137507] ChrX:64829717..65696211 [GRCh38]
ChrX:64049597..64916072 [GRCh37]
ChrX:63966322..64832797 [NCBI36]
ChrX:Xq11.2-12
likely 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 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 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 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..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 Xp22.2-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
NM_002444.3(MSN):c.1657C>T (p.Arg553Ter) single nucleotide variant Immunodeficiency 50 [RCV000412497] ChrX:65739816 [GRCh38]
ChrX:64959678 [GRCh37]
ChrX:Xq12
pathogenic
NM_002444.3(MSN):c.511C>T (p.Arg171Trp) single nucleotide variant Immunodeficiency 50 [RCV000412603]|not provided [RCV001092797] ChrX:65731150 [GRCh38]
ChrX:64951012 [GRCh37]
ChrX:Xq12
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 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.2-12(chrX:64236940-65161851)x3 copy number gain See cases [RCV000445659] ChrX:64236940..65161851 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
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:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_002444.3(MSN):c.1113G>A (p.Arg371=) single nucleotide variant not provided [RCV000898197] ChrX:65737200 [GRCh38]
ChrX:64957062 [GRCh37]
ChrX:Xq12
benign
NM_002444.3(MSN):c.1407A>G (p.Thr469=) single nucleotide variant not provided [RCV000926811] ChrX:65739032 [GRCh38]
ChrX:64958894 [GRCh37]
ChrX:Xq12
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_002444.3(MSN):c.50A>C (p.Glu17Ala) single nucleotide variant not provided [RCV000800965] ChrX:65716855 [GRCh38]
ChrX:64936717 [GRCh37]
ChrX:Xq12
uncertain significance
NM_002444.3(MSN):c.1580C>A (p.Ser527Ter) single nucleotide variant not provided [RCV000788875] ChrX:65739739 [GRCh38]
ChrX:64959601 [GRCh37]
ChrX:Xq12
likely pathogenic
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
NM_002444.3(MSN):c.96+7C>T single nucleotide variant not provided [RCV000914505] ChrX:65716908 [GRCh38]
ChrX:64936770 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala) single nucleotide variant Immunodeficiency 50 [RCV000990848] ChrX:65739760 [GRCh38]
ChrX:64959622 [GRCh37]
ChrX:Xq12
likely pathogenic
NM_002444.3(MSN):c.817C>T (p.Arg273Trp) single nucleotide variant Immunodeficiency 50 [RCV001262725] ChrX:65735288 [GRCh38]
ChrX:64955150 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
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:7373 AgrOrtholog
COSMIC MSN COSMIC
Ensembl Genes ENSG00000147065 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477441 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360270 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000609672 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.1020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147065 GTEx
HGNC ID HGNC:7373 ENTREZGENE
Human Proteome Map MSN Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERM_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ez/rad/moesin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_PH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Moesin_tail_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4478 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4478 ENTREZGENE
OMIM 300988 OMIM
  309845 OMIM
Pfam ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31178 PharmGKB
PIRSF ERM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS BAND41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERMFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt MOES_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6PJT4_HUMAN UniProtKB/TrEMBL
  V9GZ54_HUMAN UniProtKB/TrEMBL
  V9HWC0 ENTREZGENE, UniProtKB/TrEMBL