UBQLN2 (ubiquilin 2) - Rat Genome Database

Name: UBQLN2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ubqln2 (ubiquilin 2)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Ubqln2 (ubiquilin 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ubqln2 (ubiquilin 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	UBQLN2 (ubiquilin 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	UBQLN2 (ubiquilin 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ubqln2 (ubiquilin 2)	NCBI	Ortholog
Sus scrofa (pig):	UBQLN2 (ubiquilin 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (African green monkey):	UBQLN2 (ubiquilin 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ubqln2 (ubiquilin 2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Ubqln1 (ubiquilin 1)	HGNC	OrthoDB, OrthoMCL
Canis lupus familiaris (dog):	UBQLN1 (ubiquilin 1)	HGNC	OrthoDB, OrthoMCL
Rattus norvegicus (Norway rat):	Ubqln1 (ubiquilin 1)	HGNC	OrthoDB
Sus scrofa (pig):	UBQLN1 (ubiquilin 1)	HGNC	OrthoDB
Alliance orthologs ³
Mus musculus (house mouse):	Ubqln2 (ubiquilin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|TreeFam)
Rattus norvegicus (Norway rat):	Ubqln2 (ubiquilin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	DSK2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	ubql-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Drosophila melanogaster (fruit fly):	Ubqn	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	56,563,639 - 56,567,868 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	X	56,563,627 - 56,567,868 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	56,563,627 - 56,567,868 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	56,590,060 - 56,594,301 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	56,606,797 - 56,610,102 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	56,473,092 - 56,476,398	NCBI
Celera	X	60,422,310 - 60,425,727 (+)	NCBI
Cytogenetic Map	X	p11.21	NCBI
HuRef	X	53,642,196 - 53,645,647 (+)	NCBI		HuRef
CHM1_1	X	56,580,226 - 56,583,643 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

amyotrophic lateral sclerosis (IAGP)

amyotrophic lateral sclerosis type 1 (IAGP)

amyotrophic lateral sclerosis type 15 (IAGP)

autistic disorder (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

2,4-dinitrotoluene (ISO)

6-propyl-2-thiouracil (ISO)

aconitine (ISO)

aflatoxin B1 (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

buta-1,3-diene (ISO)

C60 fullerene (ISO)

cyproconazole (ISO)

decabromodiphenyl ether (ISO)

dibutyl phthalate (ISO)

diuron (ISO)

doxorubicin (EXP)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

glafenine (ISO)

methapyrilene (ISO)

N-methyl-4-phenylpyridinium (ISO)

nefazodone (ISO)

paracetamol (EXP)

pentachlorophenol (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

prochloraz (ISO)

propiconazole (ISO)

resorcinol (EXP)

sulindac (ISO)

theophylline (EXP)

triadimefon (ISO)

triphenyl phosphate (ISO)

tungsten (ISO)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagosome assembly (IBA)

negative regulation of clathrin-dependent endocytosis (IMP)

negative regulation of G protein-coupled receptor internalization (IMP)

positive regulation of ER-associated ubiquitin-dependent protein catabolic process (IMP)

regulation of autophagosome assembly (IMP)

regulation of macroautophagy (IBA,IMP)

ubiquitin-dependent ERAD pathway (IBA,IMP)

ubiquitin-dependent protein catabolic process (IBA)

Cellular Component

autophagosome (IEA)

cytoplasm (IDA)

cytoplasmic vesicle (IEA)

cytosol (IBA,IDA,TAS)

nucleus (IEA)

plasma membrane (IDA)

Molecular Function

identical protein binding (IPI)

polyubiquitin modification-dependent protein binding (IBA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

Endoplasmic Reticulum-associated degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Adult onset (IAGP)

Agitation (IAGP)

Amyotrophic lateral sclerosis (IAGP)

Anxiety (IAGP)

Athetosis (IAGP)

Axonal loss (IAGP)

Depressivity (IAGP)

Dysarthria (IAGP)

Dysphagia (IAGP)

Dyspnea (IAGP)

Dystonia (IAGP)

Emotional lability (IAGP)

Fatigable weakness of respiratory muscles (IAGP)

Fatigable weakness of swallowing muscles (IAGP)

Fatigue (IAGP)

Frontotemporal dementia (IAGP)

Generalized muscle weakness (IAGP)

Gliosis (IAGP)

Laryngospasm (IAGP)

Muscle spasm (IAGP)

Nausea and vomiting (IAGP)

Neurodegeneration (IAGP)

Pain (IAGP)

Paralysis (IAGP)

Progressive (IAGP)

Respiratory failure (IAGP)

Schizophrenia (IAGP)

Skeletal muscle atrophy (IAGP)

Spasticity (IAGP)

X-linked dominant inheritance (IAGP)

Xerostomia (IAGP)

References

References - curated


1.	Deng HX, etal., Nature. 2011 Aug 21. doi: 10.1038/nature10353.
2.	OMIM Disease Annotation Pipeline
3.	Pipeline to import KEGG annotations from KEGG into RGD
4.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	RGD automated import pipeline for gene-chemical interactions
6.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	56,563,639 - 56,567,868 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	X	56,563,627 - 56,567,868 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	56,563,627 - 56,567,868 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	56,590,060 - 56,594,301 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	56,606,797 - 56,610,102 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	56,473,092 - 56,476,398	NCBI
Celera	X	60,422,310 - 60,425,727 (+)	NCBI
Cytogenetic Map	X	p11.21	NCBI
HuRef	X	53,642,196 - 53,645,647 (+)	NCBI		HuRef
CHM1_1	X	56,580,226 - 56,583,643 (+)	NCBI		CHM1_1

Ubqln2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	152,281,228 - 152,284,558 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	152,281,223 - 152,284,566 (+)	Ensembl
GRCm38	X	153,498,232 - 153,501,562 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	153,498,227 - 153,501,570 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	149,932,775 - 149,936,105 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	148,838,948 - 148,842,278 (+)	NCBI			mm8
Celera	X	135,753,727 - 135,757,059 (-)	NCBI		Celera
Cytogenetic Map	X	F3	NCBI

Ubqln2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	17,853,086 - 17,856,505 (-)	NCBI
Rnor_6.0 Ensembl	X	18,723,341 - 18,726,732 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	18,723,313 - 18,726,732 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	19,487,954 - 19,491,373 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	37,992,907 - 37,996,327 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	X	18,131,544 - 18,134,964 (-)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Ubqln2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955475	3,260,503 - 3,262,380 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955475	3,260,209 - 3,263,586 (+)	NCBI	ChiLan1.0	ChiLan1.0

UBQLN2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	56,981,696 - 56,985,979 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	56,981,985 - 56,983,859 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	X	48,829,844 - 48,835,040 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

UBQLN2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	47,860,923 - 47,864,282 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	39,057,141 - 39,060,488 (+)	NCBI
ROS_Cfam_1.0	X	48,117,445 - 48,120,792 (+)	NCBI
UMICH_Zoey_3.1	X	47,357,992 - 47,361,339 (+)	NCBI
UNSW_CanFamBas_1.0	X	48,101,497 - 48,104,844 (+)	NCBI
UU_Cfam_GSD_1.0	X	48,016,846 - 48,020,193 (+)	NCBI

Ubqln2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	40,500,402 - 40,503,770 (+)	NCBI
SpeTri2.0	NW_004936819	530,833 - 534,185 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UBQLN2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	48,948,389 - 48,950,263 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	48,948,062 - 48,951,392 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

UBQLN2
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	52,486,154 - 52,489,531 (+)	NCBI
ChlSab1.1 Ensembl	X	52,486,454 - 52,488,328 (+)	Ensembl

Ubqln2
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624910	1,547,942 - 1,551,323 (+)	NCBI

Position Markers

A004O20

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	56,593,149 - 56,593,296	UniSTS	GRCh37
Build 36	X	56,609,874 - 56,610,021	RGD	NCBI36
Celera	X	60,425,433 - 60,425,580	RGD
Cytogenetic Map	X	p11.21	UniSTS
HuRef	X	53,645,353 - 53,645,500	UniSTS
GeneMap99-GB4 RH Map	X	190.03	UniSTS

RH36076

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	56,591,807 - 56,591,960	UniSTS	GRCh37
Build 36	X	56,608,532 - 56,608,685	RGD	NCBI36
Celera	X	60,424,091 - 60,424,244	RGD
Cytogenetic Map	X	p11.21	UniSTS
GeneMap99-GB4 RH Map	X	190.03	UniSTS

UBQLN2_9620

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	56,592,707 - 56,593,530	UniSTS	GRCh37
Build 36	X	56,609,432 - 56,610,255	RGD	NCBI36
Celera	X	60,424,991 - 60,425,814	RGD
HuRef	X	53,644,911 - 53,645,734	UniSTS

MARC_14449-14450:1010425235:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	56,592,532 - 56,592,965	UniSTS	GRCh37
Build 36	X	56,609,257 - 56,609,690	RGD	NCBI36
Celera	X	60,424,816 - 60,425,249	RGD
HuRef	X	53,644,736 - 53,645,169	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR34A	hsa-miR-34a-5p	Tarbase	external_info	Proteomics	POSITIVE

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

1199

2781

Low

154

663

122

113

329

111

206

237

305

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB015344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF189009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF293385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL354793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL442081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU310783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI602998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000338222 ⟹ ENSP00000345195

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	56,563,639 - 56,567,868 (+)	Ensembl

RefSeq Acc Id:

NM_013444 ⟹ NP_038472

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	56,563,627 - 56,567,868 (+)	NCBI
GRCh37	X	56,590,025 - 56,593,443 (+)	NCBI
Build 36	X	56,606,797 - 56,610,102 (+)	NCBI Archive
HuRef	X	53,642,196 - 53,645,647 (+)	ENTREZGENE
CHM1_1	X	56,580,226 - 56,583,643 (+)	NCBI

Sequence:

show sequence

TGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCGGCGGCGGAGGAGGCCCAGAGAC
CGGAGCGCGGAGACCTCAGCCAGCGGCCTACGCCCAGGCCTTTCTCCACCGGAGGACCAGGGAA
CCGCAGTCTTCATCACAGAGGTACCGTGCTCCGCGCTCCCCGCCTGACCCGGCCCAGCCCGCTG
CGGCGGTGCCTCCTTCCTTCCTCCTTCCCTCGCGCTCTCTCTTTCGCCCGCCCGCGCCTTCCCT
GCCCGCCTGCGTCACCGCGGCCGCCATGGCTGAGAATGGCGAGAGCAGCGGCCCCCCGCGCCCC
TCCCGCGGCCCTGCTGCGGCCCAAGGCTCGGCTGCTGCCCCGGCTGAGCCTAAAATCATCAAAG
TCACGGTGAAGACTCCCAAAGAGAAAGAGGAGTTCGCGGTGCCCGAGAACAGCTCGGTTCAGCA
GTTTAAGGAAGCGATTTCGAAACGCTTCAAATCCCAAACCGATCAGCTAGTGCTGATTTTTGCC
GGAAAAATCTTAAAAGATCAAGATACCTTGATCCAGCATGGCATCCATGATGGGCTGACTGTTC
ACCTTGTCATCAAAAGCCAGAACCGACCTCAGGGCCAGTCCACGCAGCCTAGCAATGCCGCGGG
AACTAACACTACCTCGGCGTCGACTCCCAGGAGTAACTCCACACCTATTTCCACAAATAGCAAC
CCGTTTGGGTTGGGGAGCCTGGGAGGACTTGCAGGCCTTAGCAGCCTGGGCTTGAGCTCGACCA
ACTTCTCTGAGCTCCAGAGCCAGATGCAGCAGCAGCTTATGGCCAGCCCTGAGATGATGATCCA
AATAATGGAAAATCCCTTTGTTCAGAGCATGCTTTCGAATCCCGATCTGATGAGGCAGCTCATT
ATGGCTAATCCACAGATGCAGCAATTGATTCAGAGAAACCCAGAAATCAGTCACCTGCTCAACA
ACCCAGACATAATGAGGCAGACACTCGAAATTGCCAGGAATCCAGCCATGATGCAAGAGATGAT
GAGAAATCAAGACCTGGCTCTTAGCAATCTAGAAAGCATCCCAGGTGGCTATAATGCTTTACGG
CGCATGTACACTGACATTCAAGAGCCGATGCTGAATGCCGCACAAGAGCAGTTTGGGGGTAATC
CATTTGCCTCCGTGGGGAGTAGTTCCTCCTCTGGGGAAGGTACGCAGCCTTCCCGCACAGAAAA
TCGCGATCCACTACCCAATCCATGGGCACCACCGCCAGCTACCCAGAGTTCTGCAACTACCAGC
ACGACCACAAGCACTGGTAGTGGGTCTGGCAATAGTTCCAGCAATGCTACTGGGAACACCGTTG
CTGCCGCTAATTATGTCGCCAGCATCTTTAGTACCCCAGGCATGCAGAGCCTGCTGCAACAGAT
AACTGAAAACCCCCAGCTGATTCAGAATATGCTGTCGGCGCCCTACATGAGAAGCATGATGCAG
TCGCTGAGCCAGAATCCAGATTTGGCTGCACAGATGATGCTGAATAGCCCGCTGTTTACTGCAA
ATCCTCAGCTGCAGGAGCAGATGCGGCCACAGCTCCCAGCCTTCCTGCAGCAGATGCAGAATCC
AGACACACTATCAGCCATGTCAAACCCAAGAGCAATGCAGGCTTTAATGCAGATCCAGCAGGGG
CTACAGACATTAGCCACTGAAGCACCTGGCCTGATTCCGAGCTTCACTCCAGGTGTGGGGGTGG
GGGTGCTGGGAACCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCCATAGGCCCTAT
AGTCCCTTTTACCCCCATAGGCCCCATTGGGCCCATAGGACCCACTGGCCCTGCAGCCCCCCCT
GGCTCCACCGGCTCTGGTGGCCCCACGGGGCCTACTGTGTCCAGCGCTGCACCTAGTGAAACCA
CGAGTCCTACATCAGAATCTGGACCCAACCAGCAGTTCATTCAGCAAATGGTGCAGGCCCTGGC
TGGAGCAAATGCTCCACAGCTGCCGAATCCAGAAGTCAGATTTCAGCAACAACTGGAACAGCTC
AACGCAATGGGGTTCTTAAACCGTGAAGCAAACTTGCAGGCCCTAATAGCAACAGGAGGCGACA
TCAATGCAGCCATTGAAAGGCTGCTGGGCTCCCAGCCATCGTAATCACATTTCTGTACCTGGAA
AAAAAATGTATCTTATTTTTGATAATGGCTCTTAAATCTTTAAACACACACACAAAATCGTTCT
TTACTTTCATTTTGATTCTTTTAAATCTGTCTAGTTGTAAGTCTAATATGATGCATTTTAAGAT
GGAGTCCCTCCCTCCTACTTCCCTCACTCCCTTTCTCCTTTGCTTATTTTTCCTACCTTCCCTT
CCTCTTGTCTCCCCACTCCCTCCCTCTTTGTTTCCTTCCTTCCTTATTTCCTTTAGTTTCCTTC
CTTAGCCGTTTTGAGTGGTGGGAATCAATGCTGTTTCACTCAAAAGTGTTGCATGCAAACACTT
CTCTTTATTCTGCATTTATTGTGATTTTTGGAAACAGGTATCAACCTTCACAGTTGGGTGAACA
AGTGTTGTCCTACAGATGTCCAATTTATTTGCATTTTTAAACATTAGCCTATGATAGTAATTTA
ATGTAGAATGAAGATATTAAAAACAGAAGCAAATTATTTGAAGCTCTCTAATTTGTGGTACGAT
ATTGCTTATTGTGACTTTGGCATGTATTTTTGCTAGCAAAATGCTGTAAGATTTATACCATTGA
TCTTTTTTGCTATATTTGTATACAGTACAGTAAGCACAATTGGCACTGTACATCTAAAAATATT
ACAGTAGAATCTGAGTGTAATATGTGTAACCAAAATGAGAAAGAATACAAGAAATGTTTCTGGA
GCTAGTTATGTCTCACAATTTTGTAGAATCTTACAGCATCTTTGATAAACTTCTCAGTGAAAAT
GTTGGCTAGGCAAGTTCAGTTAAAATATAGTAGAAATGTTTATCCTGGTATCTCTAAGTATACA
TTTAATTGTACAGAAAATTTACAGTGTAACATTGTGTCAACATTTGCAGATTGACTGTATATGA
CCTTAATCTTTGTGCAGCCTGAAGGATCAGTGTAGTAATGCCAGGAAAGTGCTTTTTACCTAAG
ACTTCCTTCTCAGCTTCTCCCATAAAGAGACCCTAATATGCATTTTGATTTGTAATTGGAAATG
TAACTTTCACTGAAAGTGTCATGTGATGTTTGCATTACTTTTAACTGCTATGTATAAAGGAAAG
TGTGTCTTTTGACTTCATCAGTTATTTCTCTTGTGCACAGAGAAAAATGCATTAAAAATGACTA
AAAAAAATAAAAAATTAAAAAATGGATAAATCTTTTCTTTTTGCCTTTTGGCCCTAGGATCGTG
TTTAGGAGGATTATCCCACCCCGAGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_038472	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF17237	(Get FASTA)	NCBI Sequence Viewer
	AAG02474	(Get FASTA)	NCBI Sequence Viewer
	AAH69237	(Get FASTA)	NCBI Sequence Viewer
	BAA34801	(Get FASTA)	NCBI Sequence Viewer
	BAG59731	(Get FASTA)	NCBI Sequence Viewer
	BAG64063	(Get FASTA)	NCBI Sequence Viewer
	CAC09446	(Get FASTA)	NCBI Sequence Viewer
	EAW93233	(Get FASTA)	NCBI Sequence Viewer
	Q9UHD9	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_038472 ⟸ NM_013444

- UniProtKB:

Q9UHD9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEAISKR
FKSQTDQLVLIFAGKILKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAGTNTTSAST
PRSNSTPISTNSNPFGLGSLGGLAGLSSLGLSSTNFSELQSQMQQQLMASPEMMIQIMENPFVQ
SMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARNPAMMQEMMRNQDLALS
NLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPW
APPPATQSSATTSTTTSTGSGSGNSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQ
NMLSAPYMRSMMQSLSQNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSN
PRAMQALMQIQQGLQTLATEAPGLIPSFTPGVGVGVLGTAIGPVGPVTPIGPIGPIVPFTPIGP
IGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFIQQMVQALAGANAPQLP
NPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLGSQPS

hide 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 Assembly	Chr	Position (strand)	Source
Build 36	X	56,605,801 - 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

External Database Links

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

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)