UBQLN2 (ubiquilin 2) - Rat Genome Database

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Gene: UBQLN2 (ubiquilin 2) Homo sapiens
Analyze
Symbol: UBQLN2
Name: ubiquilin 2
RGD ID: 1350173
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in several processes, including negative regulation of receptor-mediated endocytosis; regulation of cellular catabolic process; and ubiquitin-dependent ERAD pathway. Localizes to cytosol and plasma membrane. Implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 15.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS15; CHAP1; CHAP1/DSK2; Dsk2; DSK2 homolog; FLJ10167; FLJ56541; hPLIC-2; HRIHFB2157; LIC-2; N4BP4; Nedd4 binding protein 4; PLIC-2; PLIC2; protein linking IAP with cytoskeleton 2; RIHFB2157; ubiquilin-2; ubiquitin-like product Chap1/Dsk2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX56,563,639 - 56,567,868 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX56,563,627 - 56,567,868 (+)EnsemblGRCh38hg38GRCh38
GRCh38X56,563,627 - 56,567,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X56,590,060 - 56,594,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,606,797 - 56,610,102 (+)NCBINCBI36hg18NCBI36
Build 34X56,473,092 - 56,476,398NCBI
CeleraX60,422,310 - 60,425,727 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX53,642,196 - 53,645,647 (+)NCBIHuRef
CHM1_1X56,580,226 - 56,583,643 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9853615   PMID:10675567   PMID:10894951   PMID:10983987   PMID:11717310   PMID:11827521   PMID:12200120   PMID:12477932   PMID:12972570   PMID:14702039   PMID:15231748   PMID:15772651  
PMID:15975090   PMID:16713569   PMID:16813565   PMID:17098253   PMID:17558393   PMID:18029348   PMID:18199683   PMID:18307982   PMID:18497817   PMID:18535780   PMID:18976975   PMID:19148225  
PMID:19322201   PMID:19815544   PMID:20059542   PMID:20301623   PMID:20529957   PMID:20804422   PMID:21078624   PMID:21378313   PMID:21873635   PMID:21988832   PMID:22119785   PMID:22169395  
PMID:22426854   PMID:22560112   PMID:22676852   PMID:22717235   PMID:22729385   PMID:22863883   PMID:22892309   PMID:22939629   PMID:23138764   PMID:23284306   PMID:23312802   PMID:23459205  
PMID:23541532   PMID:23582661   PMID:23774650   PMID:23940030   PMID:23944734   PMID:23973441   PMID:24085347   PMID:24086754   PMID:24215460   PMID:24684794   PMID:24771548   PMID:24811749  
PMID:25179229   PMID:25246588   PMID:25398946   PMID:25616961   PMID:25666615   PMID:25672654   PMID:25921289   PMID:25959826   PMID:26075709   PMID:26141599   PMID:26303000   PMID:26344197  
PMID:26514267   PMID:26944018   PMID:27166223   PMID:27168037   PMID:27345149   PMID:27396824   PMID:27456931   PMID:27477512   PMID:27480424   PMID:28125704   PMID:28380382   PMID:28443643  
PMID:28514442   PMID:28716533   PMID:28846114   PMID:29161404   PMID:29247619   PMID:29358706   PMID:29401586   PMID:29426014   PMID:29526694   PMID:29540532   PMID:29666234   PMID:30348461  
PMID:30442662   PMID:30664872   PMID:30982635   PMID:31073040   PMID:31300519   PMID:31699778   PMID:31904842   PMID:32296183   PMID:32413959   PMID:32513711   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
UBQLN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX56,563,639 - 56,567,868 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX56,563,627 - 56,567,868 (+)EnsemblGRCh38hg38GRCh38
GRCh38X56,563,627 - 56,567,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X56,590,060 - 56,594,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,606,797 - 56,610,102 (+)NCBINCBI36hg18NCBI36
Build 34X56,473,092 - 56,476,398NCBI
CeleraX60,422,310 - 60,425,727 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX53,642,196 - 53,645,647 (+)NCBIHuRef
CHM1_1X56,580,226 - 56,583,643 (+)NCBICHM1_1
Ubqln2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X152,281,228 - 152,284,558 (+)NCBIGRCm39mm39
GRCm39 EnsemblX152,281,223 - 152,284,566 (+)Ensembl
GRCm38X153,498,232 - 153,501,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX153,498,227 - 153,501,570 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X149,932,775 - 149,936,105 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X148,838,948 - 148,842,278 (+)NCBImm8
CeleraX135,753,727 - 135,757,059 (-)NCBICelera
Cytogenetic MapXF3NCBI
Ubqln2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X17,853,086 - 17,856,505 (-)NCBI
Rnor_6.0 EnsemblX18,723,341 - 18,726,732 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X18,723,313 - 18,726,732 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X19,487,954 - 19,491,373 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X37,992,907 - 37,996,327 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX18,131,544 - 18,134,964 (-)NCBICelera
Cytogenetic MapXq12NCBI
Ubqln2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554753,260,503 - 3,262,380 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554753,260,209 - 3,263,586 (+)NCBIChiLan1.0ChiLan1.0
UBQLN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X56,981,696 - 56,985,979 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX56,981,985 - 56,983,859 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X48,829,844 - 48,835,040 (+)NCBIMhudiblu_PPA_v0panPan3
UBQLN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X47,860,923 - 47,864,282 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX39,057,141 - 39,060,488 (+)NCBI
ROS_Cfam_1.0X48,117,445 - 48,120,792 (+)NCBI
UMICH_Zoey_3.1X47,357,992 - 47,361,339 (+)NCBI
UNSW_CanFamBas_1.0X48,101,497 - 48,104,844 (+)NCBI
UU_Cfam_GSD_1.0X48,016,846 - 48,020,193 (+)NCBI
Ubqln2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X40,500,402 - 40,503,770 (+)NCBI
SpeTri2.0NW_004936819530,833 - 534,185 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBQLN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX48,948,389 - 48,950,263 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X48,948,062 - 48,951,392 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
UBQLN2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X52,486,154 - 52,489,531 (+)NCBI
ChlSab1.1 EnsemblX52,486,454 - 52,488,328 (+)Ensembl
Ubqln2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249101,547,942 - 1,551,323 (+)NCBI

Position Markers
A004O20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,593,149 - 56,593,296UniSTSGRCh37
Build 36X56,609,874 - 56,610,021RGDNCBI36
CeleraX60,425,433 - 60,425,580RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,645,353 - 53,645,500UniSTS
GeneMap99-GB4 RH MapX190.03UniSTS
RH36076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,591,807 - 56,591,960UniSTSGRCh37
Build 36X56,608,532 - 56,608,685RGDNCBI36
CeleraX60,424,091 - 60,424,244RGD
Cytogenetic MapXp11.21UniSTS
GeneMap99-GB4 RH MapX190.03UniSTS
UBQLN2_9620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,592,707 - 56,593,530UniSTSGRCh37
Build 36X56,609,432 - 56,610,255RGDNCBI36
CeleraX60,424,991 - 60,425,814RGD
HuRefX53,644,911 - 53,645,734UniSTS
MARC_14449-14450:1010425235:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,592,532 - 56,592,965UniSTSGRCh37
Build 36X56,609,257 - 56,609,690RGDNCBI36
CeleraX60,424,816 - 60,425,249RGD
HuRefX53,644,736 - 53,645,169UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pTarbaseexternal_infoProteomicsPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1377
Count of miRNA genes:635
Interacting mature miRNAs:702
Transcripts:ENST00000338222
Prediction methods:Microtar, 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
Medium 2284 2328 1604 511 1622 354 4346 1991 3497 357 1155 1608 175 1 1199 2781 5
Low 154 663 122 113 329 111 11 206 237 61 305 4 5 7 1 2
Below cutoff 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000338222   ⟹   ENSP00000345195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,563,639 - 56,567,868 (+)Ensembl
RefSeq Acc Id: NM_013444   ⟹   NP_038472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,563,627 - 56,567,868 (+)NCBI
GRCh37X56,590,025 - 56,593,443 (+)NCBI
Build 36X56,606,797 - 56,610,102 (+)NCBI Archive
HuRefX53,642,196 - 53,645,647 (+)ENTREZGENE
CHM1_1X56,580,226 - 56,583,643 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_038472   ⟸   NM_013444
- UniProtKB: Q9UHD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000345195   ⟸   ENST00000338222
Protein Domains
STI1   UBA   Ubiquitin-like

Promoters
RGD ID:6809356
Promoter ID:HG_KWN:67011
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013444,   OTTHUMT00000056891
Position:
Human AssemblyChrPosition (strand)Source
Build 36X56,605,801 - 56,608,627 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013444.3(UBQLN2):c.1474G>C (p.Val492Leu) single nucleotide variant not specified [RCV000516395] ChrX:56565347 [GRCh38]
ChrX:56591780 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000022842] ChrX:56565363 [GRCh38]
ChrX:56591796 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000022843] ChrX:56565362 [GRCh38]
ChrX:56591795 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000022844] ChrX:56565389 [GRCh38]
ChrX:56591822 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000022845] ChrX:56565398 [GRCh38]
ChrX:56591831 [GRCh37]
ChrX:Xp11.21
pathogenic|uncertain significance
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000022846]|Amyotrophic lateral sclerosis [RCV000625776]|not provided [RCV000876251] ChrX:56565446 [GRCh38]
ChrX:56591879 [GRCh37]
ChrX:Xp11.21
pathogenic|likely pathogenic|benign|likely benign|uncertain 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
NM_013444.3(UBQLN2):c.1420C>G (p.Pro474Ala) single nucleotide variant not provided [RCV000730263]|not specified [RCV000518129] ChrX:56565293 [GRCh38]
ChrX:56591726 [GRCh37]
ChrX:Xp11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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)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: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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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
NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000144928] ChrX:56565363 [GRCh38]
ChrX:56591796 [GRCh37]
ChrX:Xp11.21
pathogenic|not provided
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
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:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
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 Xp11.21-q11.2(chrX:56127875-63867853)x2 copy number gain See cases [RCV000137371] ChrX:56127875..63867853 [GRCh38]
ChrX:56154308..63087733 [GRCh37]
ChrX:56171033..63004458 [NCBI36]
ChrX:Xp11.21-q11.2
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-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.21(chrX:56041093-57333244)x2 copy number gain See cases [RCV000141695] ChrX:56041093..57333244 [GRCh38]
ChrX:56067526..57359677 [GRCh37]
ChrX:56084251..57376402 [NCBI36]
ChrX:Xp11.21
uncertain significance
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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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: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 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000399814]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001079580]|not provided [RCV000547371]|not specified [RCV000241665] ChrX:56565334 [GRCh38]
ChrX:56591767 [GRCh37]
ChrX:Xp11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013444.3(UBQLN2):c.*1170dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000303430] ChrX:56566917..56566918 [GRCh38]
ChrX:56593350..56593351 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.-163G>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000294537]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167818] ChrX:56563711 [GRCh38]
ChrX:56590144 [GRCh37]
ChrX:Xp11.21
benign|likely benign
NM_013444.3(UBQLN2):c.*1258C>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000358178]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001165714] ChrX:56567006 [GRCh38]
ChrX:56593439 [GRCh37]
ChrX:Xp11.21
likely benign
NM_013444.3(UBQLN2):c.-49_-48dupCT microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000349652] ChrX:56563818..56563819 [GRCh38]
ChrX:56590251..56590252 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.1170C>T (p.Pro390=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000281846]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167824] ChrX:56565043 [GRCh38]
ChrX:56591476 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.-277A>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000325002]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167235] ChrX:56563597 [GRCh38]
ChrX:56590030 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.243A>G (p.Leu81=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000385557]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167821] ChrX:56564116 [GRCh38]
ChrX:56590549 [GRCh37]
ChrX:Xp11.21
likely benign|uncertain significance
NM_013444.3(UBQLN2):c.-271G>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000388853]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167817] ChrX:56563603 [GRCh38]
ChrX:56590036 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.1383G>A (p.Gly461=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000336836]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000649034]|not specified [RCV001288936] ChrX:56565256 [GRCh38]
ChrX:56591689 [GRCh37]
ChrX:Xp11.21
benign|likely benign
NM_013444.3(UBQLN2):c.*16T>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000297168]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001169694] ChrX:56565764 [GRCh38]
ChrX:56592197 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.*41G>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000342793]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001169695] ChrX:56565789 [GRCh38]
ChrX:56592222 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.*881A>G single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000400643]|Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001165711] ChrX:56566629 [GRCh38]
ChrX:56593062 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.1318C>A (p.Pro440Thr) single nucleotide variant not provided [RCV000487760] ChrX:56565191 [GRCh38]
ChrX:56591624 [GRCh37]
ChrX:Xp11.21
uncertain significance
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 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 Xp11.21-q11.1(chrX:56457791-62348148)x3 copy number gain See cases [RCV000511839] ChrX:56457791..62348148 [GRCh37]
ChrX:Xp11.21-q11.1
uncertain significance
GRCh37/hg19 Xp11.21(chrX:56488503-57276424) copy number gain Global developmental delay [RCV000626550] ChrX:56488503..57276424 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_013444.3(UBQLN2):c.968C>T (p.Pro323Leu) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000649033] ChrX:56564841 [GRCh38]
ChrX:56591274 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.3(UBQLN2):c.579C>T (p.Ser193=) single nucleotide variant not provided [RCV000714148] ChrX:56564452 [GRCh38]
ChrX:56590885 [GRCh37]
ChrX:Xp11.21
benign
NM_013444.3(UBQLN2):c.1581_1584delinsG (p.Thr528del) indel not provided [RCV000714147] ChrX:56565454..56565457 [GRCh38]
ChrX:56591887..56591890 [GRCh37]
ChrX:Xp11.21
uncertain significance
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
NM_013444.3(UBQLN2):c.1145T>A (p.Leu382Gln) single nucleotide variant not provided [RCV000714146] ChrX:56565018 [GRCh38]
ChrX:56591451 [GRCh37]
ChrX:Xp11.21
uncertain significance
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
NM_013444.3(UBQLN2):c.1715C>T (p.Ala572Val) single nucleotide variant not provided [RCV000929222] ChrX:56565588 [GRCh38]
ChrX:56592021 [GRCh37]
ChrX:Xp11.21
benign
NM_013444.3(UBQLN2):c.264C>T (p.Ile88=) single nucleotide variant not provided [RCV000925752] ChrX:56564137 [GRCh38]
ChrX:56590570 [GRCh37]
ChrX:Xp11.21
likely 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_013444.3(UBQLN2):c.1852C>T (p.Leu618=) single nucleotide variant not provided [RCV000939984] ChrX:56565725 [GRCh38]
ChrX:56592158 [GRCh37]
ChrX:Xp11.21
likely benign
NM_013444.3(UBQLN2):c.1574C>T (p.Pro525Leu) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV000793463] ChrX:56565447 [GRCh38]
ChrX:56591880 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21(chrX:56457791-57976114)x2 copy number gain not provided [RCV000849391] ChrX:56457791..57976114 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.*905G>A single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001165712] ChrX:56566653 [GRCh38]
ChrX:56593086 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.*1171T>A single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001165713] ChrX:56566919 [GRCh38]
ChrX:56593352 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001095427] ChrX:56565389 [GRCh38]
ChrX:56591822 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.-54T>G single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167820] ChrX:56563820 [GRCh38]
ChrX:56590253 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.*661A>T single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001169697] ChrX:56566409 [GRCh38]
ChrX:56592842 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.*655A>C single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001169696] ChrX:56566403 [GRCh38]
ChrX:56592836 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001209947] ChrX:56565587 [GRCh38]
ChrX:56592020 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001211116] ChrX:56564933 [GRCh38]
ChrX:56591366 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
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
NM_013444.3(UBQLN2):c.900C>A (p.Ser300=) single nucleotide variant not provided [RCV000910795] ChrX:56564773 [GRCh38]
ChrX:56591206 [GRCh37]
ChrX:Xp11.21
likely benign
NM_013444.3(UBQLN2):c.378G>A (p.Ala126=) single nucleotide variant not provided [RCV000927086] ChrX:56564251 [GRCh38]
ChrX:56590684 [GRCh37]
ChrX:Xp11.21
likely benign
NM_013444.4(UBQLN2):c.-159A>G single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167819] ChrX:56563715 [GRCh38]
ChrX:56590148 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp11.21(chrX:56457791-56721134)x3 copy number gain not provided [RCV001007305] ChrX:56457791..56721134 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) single nucleotide variant not provided [RCV001092792] ChrX:56565147 [GRCh38]
ChrX:56591580 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001169693] ChrX:56565731 [GRCh38]
ChrX:56592164 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001228420] ChrX:56564811 [GRCh38]
ChrX:56591244 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167822] ChrX:56564681 [GRCh38]
ChrX:56591114 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167823] ChrX:56564904 [GRCh38]
ChrX:56591337 [GRCh37]
ChrX:Xp11.21
uncertain significance
NC_000023.11:g.56563602T>C single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001167236] ChrX:56563602 [GRCh38]
ChrX:56590035 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001260915] ChrX:56565192 [GRCh38]
ChrX:56591625 [GRCh37]
ChrX:Xp11.21
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) single nucleotide variant Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [RCV001316038] ChrX:56565600 [GRCh38]
ChrX:56592033 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.522G>A (p.Gln174=) single nucleotide variant not provided [RCV001289409] ChrX:56564395 [GRCh38]
ChrX:56590828 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His) single nucleotide variant not provided [RCV001289408] ChrX:56565372 [GRCh38]
ChrX:56591805 [GRCh37]
ChrX:Xp11.21
uncertain significance
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:12509 AgrOrtholog
COSMIC UBQLN2 COSMIC
Ensembl Genes ENSG00000188021 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000345195 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000338222 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000188021 GTEx
HGNC ID HGNC:12509 ENTREZGENE
Human Proteome Map UBQLN2 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  STI1_HS-bd UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
  UBA-like_sf UniProtKB/Swiss-Prot
  Ubiquilin-2 UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot
  Ubiquitin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:29978 UniProtKB/Swiss-Prot
NCBI Gene 29978 ENTREZGENE
OMIM 300264 OMIM
  300857 OMIM
PANTHER PTHR10677:SF5 UniProtKB/Swiss-Prot
Pfam UBA UniProtKB/Swiss-Prot
  ubiquitin UniProtKB/Swiss-Prot
PharmGKB PA37156 PharmGKB
PROSITE UBA UniProtKB/Swiss-Prot
  UBIQUITIN_2 UniProtKB/Swiss-Prot
SMART STI1 UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
  UBQ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46934 UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot
  SSF54236 UniProtKB/Swiss-Prot
UniProt Q9UHD9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O94798 UniProtKB/Swiss-Prot
  Q5D027 UniProtKB/Swiss-Prot
  Q9H3W6 UniProtKB/Swiss-Prot
  Q9HAZ4 UniProtKB/Swiss-Prot