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Gene: TSR2 (TSR2 ribosome maturation factor) Homo sapiens

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Symbol:

TSR2

Name:

TSR2 ribosome maturation factor

RGD ID:

1602842

HGNC Page

HGNC:25455

Description:

Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be active in nucleus. Implicated in Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DBA14; DT1P1A10; escortin; MGC20451; pre-rRNA-processing protein TSR2 homolog; RP1-112K5.2; TSR2, 20S rRNA accumulation, homolog; TSR2, 20S rRNA accumulation, homolog (S. cerevisiae); TSR2, ribosome maturation factor; WGG motif containing 1; WGG1

RGD Orthologs

Alliance Orthologs

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):	Tsr2 (TSR2 20S rRNA accumulation)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tsr2 (TSR2, ribosome maturation factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tsr2 (TSR2 ribosome maturation factor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TSR2 (TSR2 ribosome maturation factor)	NCBI	Ortholog
Canis lupus familiaris (dog):	TSR2 (TSR2 ribosome maturation factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tsr2 (TSR2 ribosome maturation factor)	NCBI	Ortholog
Sus scrofa (pig):	TSR2 (TSR2 ribosome maturation factor)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	TSR2 (TSR2 ribosome maturation factor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tsr2 (TSR2 ribosome maturation factor)	NCBI	Ortholog
Other homologs ²
Canis lupus familiaris (dog):	GNL3L (G protein nucleolar 3 like)	HGNC	EggNOG, OrthoDB, PhylomeDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tsr2 (TSR2, ribosome maturation factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tsr2 (TSR2 20S rRNA accumulation)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tsr2 (TSR2 ribosome maturation factor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG14543	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	TSR2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	Y51H4A.15	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tsr2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tsr2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER)

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	X	54,440,404 - 54,448,032 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	54,440,404 - 54,448,032 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	54,466,837 - 54,474,465 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	54,483,578 - 54,488,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	58,299,414 - 58,304,291 (+)	NCBI		Celera
Cytogenetic Map	X	p11.22	NCBI
HuRef	X	51,518,075 - 51,522,307 (+)	NCBI		HuRef
CHM1_1	X	54,457,507 - 54,462,384 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	Aarskog syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aarskog syndrome	ClinVar
TSR2	Human	Aarskog syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
TSR2	Human	Aarskog syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Aarskog syndrome	ClinVar	PMID:25741868 and PMID:28492532
TSR2	Human	Atkin Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome	ClinVar	PMID:26059843 and PMID:28492532
TSR2	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
TSR2	Human	Cornelia de Lange syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome	ClinVar	PMID:26386245 more ...
TSR2	Human	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	ClinVar	PMID:11424144 and PMID:24942156
TSR2	Human	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: TSR2-related condition	ClinVar	PMID:24033266 and PMID:28492532
TSR2	Human	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: TSR2-related condition	ClinVar	PMID:28492532
TSR2	Human	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: TSR2-related condition	ClinVar	PMID:25741868 and PMID:28492532
TSR2	Human	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	ClinVar	PMID:11424144 and PMID:24942156
TSR2	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 and PMID:28492532
TSR2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
TSR2	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
TSR2	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26467025 and PMID:28492532
TSR2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
TSR2	Human	non-syndromic X-linked intellectual disability 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 1	ClinVar	PMID:26059843 and PMID:28492532
TSR2	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868
TSR2	Human	X-linked Aarskog syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: FGD1-Related Disorders	ClinVar	PMID:25741868
TSR2	Human	X-linked Aarskog syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: FGD1-Related Disorders	ClinVar
TSR2	Human	X-linked Aarskog syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: FGD1-Related Disorders	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	(-)-epigallocatechin 3-gallate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of TSR2 mRNA	CTD	PMID:22079256
TSR2	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Tsr2 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of TSR2 mRNA	CTD	PMID:36331819
TSR2	Human	1,2-dimethylhydrazine	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of TSR2 mRNA	CTD	PMID:22206623
TSR2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Tsr2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TSR2 mRNA	CTD	PMID:21570461
TSR2	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of TSR2 mRNA	CTD	PMID:30851411
TSR2	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	Fenretinide results in decreased expression of TSR2 mRNA	CTD	PMID:28973697
TSR2	Human	amphetamine	decreases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	Amphetamine results in decreased expression of TSR2 mRNA	CTD	PMID:30779732
TSR2	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of TSR2 mRNA	CTD	PMID:24449571
TSR2	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to TSR2 mRNA]	CTD	PMID:32406909
TSR2	Human	benzo[a]pyrene	increases expression	ISO	Tsr2 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of TSR2 mRNA	CTD	PMID:22228805
TSR2	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of TSR2 exon	CTD	PMID:27901495
TSR2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of TSR2 promoter	CTD	PMID:27901495
TSR2	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of TSR2 mRNA	CTD	PMID:34319233
TSR2	Human	bisphenol A	increases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of TSR2 mRNA	CTD	PMID:25181051 and PMID:34947998
TSR2	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of TSR2 mRNA	CTD	PMID:35301059
TSR2	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of TSR2 mRNA	CTD	PMID:35301059
TSR2	Human	carbon nanotube	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
TSR2	Human	cobalt dichloride	increases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	cobaltous chloride results in increased expression of TSR2 mRNA	CTD	PMID:24386269
TSR2	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of TSR2 mRNA	CTD	PMID:37042841
TSR2	Human	diethylstilbestrol	decreases expression	EXP		6480464	Diethylstilbestrol results in decreased expression of TSR2 mRNA	CTD	PMID:36621641
TSR2	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of TSR2 mRNA	CTD	PMID:29803840
TSR2	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of TSR2 protein	CTD	PMID:23301498
TSR2	Human	fipronil	decreases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	fipronil results in decreased expression of TSR2 mRNA	CTD	PMID:34044035
TSR2	Human	gentamycin	increases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of TSR2 mRNA	CTD	PMID:33387578
TSR2	Human	inulin	multiple interactions	ISO	Tsr2 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of TSR2 mRNA	CTD	PMID:36331819
TSR2	Human	lead diacetate	increases expression	ISO	Tsr2 (Mus musculus)	6480464	lead acetate results in increased expression of TSR2 mRNA	CTD	PMID:20542052
TSR2	Human	lead(0)	decreases expression	EXP		6480464	Lead results in decreased expression of TSR2 mRNA	CTD	PMID:19921347
TSR2	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	ozone	multiple interactions	ISO	Tsr2 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of Ozone] which results in decreased expression of TSR2 mRNA	CTD	PMID:27106289
TSR2	Human	p-toluidine	decreases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	4-toluidine results in decreased expression of TSR2 mRNA	CTD	PMID:27638505
TSR2	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Tsr2 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of TSR2 mRNA more ...	CTD	PMID:36331819
TSR2	Human	potassium chromate	increases expression	EXP		6480464	potassium chromate(VI) results in increased expression of TSR2 mRNA	CTD	PMID:22079256
TSR2	Human	potassium chromate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of TSR2 mRNA	CTD	PMID:22079256
TSR2	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of TSR2 mRNA	CTD	PMID:30851411
TSR2	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of TSR2 mRNA	CTD	PMID:23557933
TSR2	Human	senecionine	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	senecionine results in decreased expression of TSR2 protein	CTD	PMID:35357534
TSR2	Human	silicon dioxide	decreases expression	ISO	Tsr2 (Mus musculus)	6480464	Silicon Dioxide results in decreased expression of TSR2 mRNA	CTD	PMID:19073995
TSR2	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TSR2 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of TSR2 mRNA	CTD	PMID:39836092
TSR2	Human	T-2 toxin	increases expression	EXP		6480464	T-2 Toxin results in increased expression of TSR2 mRNA	CTD	PMID:34581912
TSR2	Human	tetrachloromethane	affects expression	ISO	Tsr2 (Mus musculus)	6480464	Carbon Tetrachloride affects the expression of TSR2 mRNA	CTD	PMID:17484886
TSR2	Human	tetrachloromethane	increases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of TSR2 mRNA	CTD	PMID:31150632
TSR2	Human	tetrahydropalmatine	increases expression	EXP		6480464	tetrahydropalmatine results in increased expression of TSR2 protein	CTD	PMID:20109541
TSR2	Human	Triptolide	increases expression	ISO	Tsr2 (Rattus norvegicus)	6480464	triptolide results in increased expression of TSR2 protein	CTD	PMID:32519852
TSR2	Human	tungsten	increases expression	ISO	Tsr2 (Mus musculus)	6480464	Tungsten results in increased expression of TSR2 mRNA	CTD	PMID:30912803

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	involved_in	IBA	PANTHER:PTN000478716 and SGD:S000004427	150520179		GO_Central	GO_REF:0000033
TSR2	Human	rRNA processing	involved_in	IEA	UniProtKB-KW:KW-0698	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	nucleus	is_active_in	IBA	PANTHER:PTN000478716 and SGD:S000004427	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	protein binding	enables	IPI	UniProtKB:O95166 and UniProtKB:P60520	150520179	PMID:20562859	IntAct	PMID:20562859
TSR2	Human	protein binding	enables	IPI	UniProtKB:O75928 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
TSR2	Human	protein binding	enables	IPI	UniProtKB:A0PJW8 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
TSR2	Human	protein binding	enables	IPI	UniProtKB:P62854	150520179	PMID:16189514 more ...	IntAct	PMID:16189514 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	Abnormal heart morphology		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Abnormality of the genitourinary system		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Abnormality of the head		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Abnormality of the thenar eminence		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Abnormality of the upper limb		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Absent thumb		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Acute myeloid leukemia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Adenocarcinoma of the colon		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Atresia of the external auditory canal		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Atrial septal defect		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Cleft lip		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Cleft palate		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Cleft soft palate		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Coarctation of aorta		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Conductive hearing impairment		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Congenital onset		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Depressed nasal bridge		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Developmental cataract		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Developmental glaucoma		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Downslanted palpebral fissures		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Elevated red cell adenosine deaminase activity		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Elevated red cell adenosine deaminase activity		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Epicanthus		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Erythroid hypoplasia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Growth delay		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	High palate		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Horseshoe kidney		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Hypertelorism		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Hypospadias		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Increased mean corpuscular volume		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Increased mean corpuscular volume		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Lethargy		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Leukopenia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Low anterior hairline		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Low-set ears		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Macrocytic anemia		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Macrocytic dyserythropoietic anemia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Malignant genitourinary tract tumor		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Micrognathia		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Microtia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Microtia		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Midface retrusion		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Myelodysplasia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Neurodevelopmental delay		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Neutropenia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Nonimmune hydrops fetalis		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Normochromic anemia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Osteosarcoma		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Pallor		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Partial duplication of thumb phalanx		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Persistence of hemoglobin F		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Persistence of hemoglobin F		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Ptosis		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Pure red cell aplasia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Radial artery aplasia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Renal agenesis		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Reticulocytopenia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Short neck		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Short stature		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Short thumb		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Small for gestational age		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Sparse eyelashes		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Sprengel anomaly		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Strabismus		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Thrombocytopenia		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Thrombocytosis		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Triphalangeal thumb		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Unilateral cryptorchidism		IAGP		8699517		HPO	MIM:300946 and PMID:24942156
TSR2	Human	Ventricular septal defect		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Webbed neck		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	Wide nasal bridge		IAGP		8699517		HPO	ORPHA:124
TSR2	Human	X-linked recessive inheritance		IAGP		8699517		HPO	MIM:300946 and PMID:24942156

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TSR2	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:9417904	PMID:12477932	PMID:16189514	PMID:17207965	PMID:19060904	PMID:19615732	PMID:20301769	PMID:20562859	PMID:21790011	PMID:21873635	PMID:22810586	PMID:24942156
PMID:25416956	PMID:26344197	PMID:26760575	PMID:30201955	PMID:32296183	PMID:33226137	PMID:33961781	PMID:34373451	PMID:35271311	PMID:35944360	PMID:38814181	PMID:38862449

TSR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	54,440,404 - 54,448,032 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	54,466,837 - 54,474,465 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	54,483,578 - 54,488,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	58,299,414 - 58,304,291 (+)	NCBI		Celera
Cytogenetic Map	X	p11.22	NCBI
HuRef	X	51,518,075 - 51,522,307 (+)	NCBI		HuRef
CHM1_1	X	54,457,507 - 54,462,384 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI		T2T-CHM13v2.0

Tsr2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	149,870,090 - 149,879,539 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	149,870,090 - 149,879,539 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	151,087,094 - 151,096,543 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	151,087,094 - 151,096,543 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	147,521,637 - 147,531,086 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	146,428,025 - 146,437,234 (-)	NCBI		MGSCv36	mm8
Celera	X	133,307,018 - 133,317,146 (+)	NCBI		Celera
Cytogenetic Map	X	F3	NCBI
cM Map	X	68.46	NCBI

Tsr2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	23,507,141 - 23,515,711 (-)	NCBI		GRCr8
mRatBN7.2	X	20,064,102 - 20,072,673 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	20,064,103 - 20,072,620 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	17,502,402 - 17,510,917 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	22,612,665 - 22,621,180 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	20,593,349 - 20,601,866 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	20,141,406 - 20,146,082 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	20,144,432 - 20,232,639 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	20,968,908 - 20,977,426 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	X	20,321,354 - 20,329,877 (-)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Tsr2
(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	1,698,136 - 1,703,404 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955475	1,698,926 - 1,703,404 (+)	NCBI	ChiLan1.0	ChiLan1.0

TSR2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	55,829,012 - 55,833,962 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	55,832,617 - 55,837,566 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	46,643,659 - 46,648,829 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	54,875,679 - 54,883,324 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	54,875,696 - 54,880,809 (+)	Ensembl	panpan1.1		panPan2

TSR2
(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	46,189,810 - 46,194,949 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	46,189,870 - 46,296,966 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	37,578,758 - 37,583,898 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	46,511,181 - 46,516,318 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	46,511,246 - 46,516,313 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	46,008,993 - 46,014,130 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	46,459,373 - 46,464,505 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	46,526,670 - 46,531,808 (+)	NCBI		UU_Cfam_GSD_1.0

Tsr2
(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	39,010,776 - 39,015,724 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936751	1,350,481 - 1,358,110 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936751	1,350,542 - 1,355,449 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TSR2
(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	47,186,643 - 47,192,452 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	47,186,610 - 47,192,465 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	53,043,987 - 53,049,415 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TSR2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	50,532,958 - 50,555,179 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666086	4,515,626 - 4,523,216 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tsr2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624909	2,310,718 - 2,315,538 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624909	2,311,494 - 2,316,358 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TSR2
109 total Variants

Predicted Target Of

	Summary Value
Count of predictions:	509
Count of miRNA genes:	404
Interacting mature miRNAs:	452
Transcripts:	ENST00000375151
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

SGC30464

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	54,471,925 - 54,472,039	UniSTS	GRCh37
Build 36	X	54,488,650 - 54,488,764	RGD	NCBI36
Celera	X	58,304,486 - 58,304,600	RGD
Cytogenetic Map	X	p11.21	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
HuRef	X	51,522,502 - 51,522,616	UniSTS
GeneMap99-GB4 RH Map	X	174.07	UniSTS
Whitehead-RH Map	X	98.2	UniSTS

SHGC-24021

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	54,471,967 - 54,472,090	UniSTS	GRCh37
Build 36	X	54,488,692 - 54,488,815	RGD	NCBI36
Celera	X	58,304,528 - 58,304,651	RGD
Cytogenetic Map	X	p11.21	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
HuRef	X	51,522,544 - 51,522,667	UniSTS
GeneMap99-G3 RH Map	X	1571.0	UniSTS

RH75708

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	54,471,669 - 54,471,865	UniSTS	GRCh37
Build 36	X	54,488,394 - 54,488,590	RGD	NCBI36
Celera	X	58,304,230 - 58,304,426	RGD
Cytogenetic Map	X	p11.21	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
HuRef	X	51,522,246 - 51,522,442	UniSTS

G35013

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	54,471,731 - 54,471,847	UniSTS	GRCh37
Build 36	X	54,488,456 - 54,488,572	RGD	NCBI36
Celera	X	58,304,292 - 58,304,408	RGD
Cytogenetic Map	X	p11.21	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
HuRef	X	51,522,308 - 51,522,424	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	174	1


RefSeq Transcripts	NG_051993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346792	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_058163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA251347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI488794	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U92980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z85987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000375151 ⟹ ENSP00000364293

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	54,440,404 - 54,448,032 (+)	Ensembl

RefSeq Acc Id:

NM_001346789 ⟹ NP_001333718

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI

Sequence:

show sequence

GTGGACTGGGGCCGGATAATGGCGGGCGCTGCAGAAGATGCGCGAGCTCTTTTCCGGGCTGGGGTCTGCGCGGCCCTGGAGGCCTGGCCGGCCTTGCAGATCGCTGTGGAGAATGGCTTCGGGGGTGT
GCACAGCCAGGAGAAGGCCAAGTGGCTGGGGGGTGCAGTGGAGGATTACTTCATGCGCAATGCTGACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAG
TTGTGGAAGACGGGAGTCTGCCCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACT
GCACTTAAGACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGA
TCCAGACGCTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCT
GTAGGGGTTTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGG
GGGACCTTTTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCT
GGAGGAGGAGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGG
AAGAGAGAATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTT
CAGCCCAGCCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATT
TGAGTTCAGGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCA
GTTTCTGGGCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCCTGAAATAAACTGTATTTTTCTTAAAAAAAAAAAAAC
ACACAAAAAAACACAAAAAACTGAGTATCCATTGTCCTCCCCCCTGTTTCCCTGTCCTGCCCGCTGGCCCTGCCATGGGTCTGGACGATAAAATACTGGGTAGCCTTGGGGCCGGGTAGAAGCTGTAA
GCCATGGGAGAGGCAGGAGAGGTCTAGTTGCCACCCCACGTGGAGTTGTACGTGTGAAGACACTGGCTGAGGAGGCAGGGCTGGGTCGGGGCCCCAGGGTCAGTGGCAGAGCTGGCACTTGAATCCAG
GTCTCCTACCTCTGGTGCTTTGTGGGGAACTGGGTGGAGGCAGGATCTGTGGTAGGGTATTGAGGGATGAGGGAGAAAAACGACCTAATTCAGGTAGGACTGGCAACGGCTCCCACCCTCCCTGGGGA
CAGGGATTAATAAAAATTGACATCACTGTAGGAATATATTTTTTAAAAGCCCACGTTTTGTGAAAAGATGAATTAAAAAACCCAAGACCCAGCATTCGGGATTGAAAGTGCCCGTGATGGGAGTTCAA
GTATTGACTGAGCTGGGAGGGAAGGGGCTAGAGCCCCCAATCAGACATGGGCAACTAGAGTGTGGGGTGGGGGCTCCCAGTTTGTCCCAAACCCTCTAGGTCTTGTCTCGGGTCTGGGGGGATTCGGG
GGGTTCAGCAGTGGCTCCTAAAGCAGCCACCGGTGCCTCCTCCATCTCCCTGTCCTCAGACAGTGTGGGCCCCGGGCAGAACGTGTCCCCTCGGCCCGCCCGGCCAAGCACAGCCATCCAGCGTCGCT
GTAGTTCCTCTGTCTCAGGGCTGAAGTACCAGCTGAGGTGGCTCTGGGTGATCTTGAAGACATGCCTTCTGTCAGGCCGCTCCCCTGCCTCGGGCGGTCCCACCTCGAAGCCAATGAGGGGCAGGCTG
CGCTGGGCTTTCACATCCTGGCGGGAGGAGGGACAGAGCTGGGGCCACCTTGGGGCTAGACCTTTCCCCCGCCCCAGCTTCTAACTGGTTTTGCATATGCTCTGTCTTCAGTCCCCTACTCAGGAACT
CCCCTACTCAGGAACCTTCCGTGGCTCCAGTGTTATCAACAGGAACATGTCAGAACTGGGGCTAAAATGCAGGCTGGTTTAAATACCTGTCTCCCCCCACCCCCGCCTCTTCTCACAAAACTGCTGGG
CTAGTCTCTTTAGCATACCAAATAATGTTTTCAGGCCTTTGTCTATGCTATTGCCCCTATCTGCATACTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGT
GGCATGAACTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACACGTCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGA
GACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGAGCCACCTGCCTCGGCCTCTCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGTCCCATCTGCATACTC
TTACCCACTCCAAATTGGACCTAGCAGTTCCCCATCTCTACTCCTTCCAGGAAGCCAGGCCCACAACTCATCCTGGTTTTCCCTACATACCACAACCACTCCTTGTCTCTAGCCAGTCTTTGTCTCTC
AAGGGTTGGGGTTCTGATTTCCTCTTAGAGATAGGCTCACCTTATCTTCCAAGGCTCACCTTATCTTCCAAGGCCAAGGAGAGGTCAAGGACTGGATCTGGCTTTGCCAGGTGGCTGAAAGGACCCGA
AGGAGTAGGATGCATACCTGAGGGGCTCCGTAGATATACAGCACCAAGGGTTCATTTTCAGGGACCACGAACCATGCCTTGTGCCATCCTTTGCCACCCTTCTCCATGTAGTGCAGGAAGCTGCAGAT
GACGCTGTTCTCTGCAGCCACTGAGGCCTGTTTCTGTGGCCAGAGACACCGGGCATCAATGTTGACAGAAGGCCTAGCCTGGCTCCTCCTAGCTTTAATACCTCCTCAGTGTAGGGACTGCTATTCCT
ATCTCAGATGAAGACGCTCAAGCTCAGGTGGCAGGAGTGATTTGTCCAGTGCCACCCAGTGAATCAGCTAGAGCTGAGATTCAAAGCTAGGTTCGTCTGCCTCATTTGGGCAACGGCTGCTGCCTCTA
CAGGCCAGTGGAAGGAGTGTGCGGATCTCAGGCATTCTTTCTTCAGTCAGAGCATTCATTCCTCAAGCCATTCACACATTTAGGCCTCATGCTTTTTTCTGTCTTTCATCACATCCATTTCCTACACT
CATTGAGAGGTAATCTAGCATTGTGGTTTTAAGGGGGTATGTGGGTGGTTAATGAAGTCTGGCTTAGAATCCCAGCTCTAGATGAAAATGTATTGACTTGGAGAGCAAAGAGAGCTGATGTGAGAATT
AAATGAATTAATATATGCAAAGTGCTTAGAATAGTTCCTGGCACAGAGTAAGTACTCTTTTAAGTGTTAAATAAATACCTAGATTTGTTTTTAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001346790 ⟹ NP_001333719

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI

Sequence:

show sequence

GTGGACTGGGGCCGGATAATGGCGGGCGCTGCAGAAGATGCGCGAGCTCTTTTCCGGGCTGGGGTCTGCGCGGCCCTGGAGGCCTGGCCGGCCTTGCAGATCGCTGTGGAGAATGGCTTCGGGGGTGT
GCACAGCCAGGAGAAGGCCAAGTGGCTGGGGGGTGCAGTGGAGGATTACTTCATGCGCAATGGTGAGTGAATGTGAGGCGCCGCGACCCGCCTGTGTGGGGGTGTGGAGAGGAGGAGCCCCATCCCGC
AGAGCCTGCATTTCCTCTCGAGCAGTTGTGGATTGGTACCTAAAGCTGACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGT
CTGCCCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAAGACAGCTAG
AGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACGCTCAGACTA
TTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGTTTTTTTTTT
GAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTTTTCCAGCAT
ATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGGAGCTAGATG
CCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGAATAGTTGAA
AATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAGCCTCCAGTC
CTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCAGGGGTGAGG
CTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGGGCCCACCCT
AGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCCTGAAATAAACTGTATTTTTCTTAAAAAAAAAAAAACACACAAAAAAACACAAA
AAACTGAGTATCCATTGTCCTCCCCCCTGTTTCCCTGTCCTGCCCGCTGGCCCTGCCATGGGTCTGGACGATAAAATACTGGGTAGCCTTGGGGCCGGGTAGAAGCTGTAAGCCATGGGAGAGGCAGG
AGAGGTCTAGTTGCCACCCCACGTGGAGTTGTACGTGTGAAGACACTGGCTGAGGAGGCAGGGCTGGGTCGGGGCCCCAGGGTCAGTGGCAGAGCTGGCACTTGAATCCAGGTCTCCTACCTCTGGTG
CTTTGTGGGGAACTGGGTGGAGGCAGGATCTGTGGTAGGGTATTGAGGGATGAGGGAGAAAAACGACCTAATTCAGGTAGGACTGGCAACGGCTCCCACCCTCCCTGGGGACAGGGATTAATAAAAAT
TGACATCACTGTAGGAATATATTTTTTAAAAGCCCACGTTTTGTGAAAAGATGAATTAAAAAACCCAAGACCCAGCATTCGGGATTGAAAGTGCCCGTGATGGGAGTTCAAGTATTGACTGAGCTGGG
AGGGAAGGGGCTAGAGCCCCCAATCAGACATGGGCAACTAGAGTGTGGGGTGGGGGCTCCCAGTTTGTCCCAAACCCTCTAGGTCTTGTCTCGGGTCTGGGGGGATTCGGGGGGTTCAGCAGTGGCTC
CTAAAGCAGCCACCGGTGCCTCCTCCATCTCCCTGTCCTCAGACAGTGTGGGCCCCGGGCAGAACGTGTCCCCTCGGCCCGCCCGGCCAAGCACAGCCATCCAGCGTCGCTGTAGTTCCTCTGTCTCA
GGGCTGAAGTACCAGCTGAGGTGGCTCTGGGTGATCTTGAAGACATGCCTTCTGTCAGGCCGCTCCCCTGCCTCGGGCGGTCCCACCTCGAAGCCAATGAGGGGCAGGCTGCGCTGGGCTTTCACATC
CTGGCGGGAGGAGGGACAGAGCTGGGGCCACCTTGGGGCTAGACCTTTCCCCCGCCCCAGCTTCTAACTGGTTTTGCATATGCTCTGTCTTCAGTCCCCTACTCAGGAACTCCCCTACTCAGGAACCT
TCCGTGGCTCCAGTGTTATCAACAGGAACATGTCAGAACTGGGGCTAAAATGCAGGCTGGTTTAAATACCTGTCTCCCCCCACCCCCGCCTCTTCTCACAAAACTGCTGGGCTAGTCTCTTTAGCATA
CCAAATAATGTTTTCAGGCCTTTGTCTATGCTATTGCCCCTATCTGCATACTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACTTGGCTCA
CTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACACGTCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG
TTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGAGCCACCTGCCTCGGCCTCTCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGTCCCATCTGCATACTCTTACCCACTCCAAATTG
GACCTAGCAGTTCCCCATCTCTACTCCTTCCAGGAAGCCAGGCCCACAACTCATCCTGGTTTTCCCTACATACCACAACCACTCCTTGTCTCTAGCCAGTCTTTGTCTCTCAAGGGTTGGGGTTCTGA
TTTCCTCTTAGAGATAGGCTCACCTTATCTTCCAAGGCTCACCTTATCTTCCAAGGCCAAGGAGAGGTCAAGGACTGGATCTGGCTTTGCCAGGTGGCTGAAAGGACCCGAAGGAGTAGGATGCATAC
CTGAGGGGCTCCGTAGATATACAGCACCAAGGGTTCATTTTCAGGGACCACGAACCATGCCTTGTGCCATCCTTTGCCACCCTTCTCCATGTAGTGCAGGAAGCTGCAGATGACGCTGTTCTCTGCAG
CCACTGAGGCCTGTTTCTGTGGCCAGAGACACCGGGCATCAATGTTGACAGAAGGCCTAGCCTGGCTCCTCCTAGCTTTAATACCTCCTCAGTGTAGGGACTGCTATTCCTATCTCAGATGAAGACGC
TCAAGCTCAGGTGGCAGGAGTGATTTGTCCAGTGCCACCCAGTGAATCAGCTAGAGCTGAGATTCAAAGCTAGGTTCGTCTGCCTCATTTGGGCAACGGCTGCTGCCTCTACAGGCCAGTGGAAGGAG
TGTGCGGATCTCAGGCATTCTTTCTTCAGTCAGAGCATTCATTCCTCAAGCCATTCACACATTTAGGCCTCATGCTTTTTTCTGTCTTTCATCACATCCATTTCCTACACTCATTGAGAGGTAATCTA
GCATTGTGGTTTTAAGGGGGTATGTGGGTGGTTAATGAAGTCTGGCTTAGAATCCCAGCTCTAGATGAAAATGTATTGACTTGGAGAGCAAAGAGAGCTGATGTGAGAATTAAATGAATTAATATATG
CAAAGTGCTTAGAATAGTTCCTGGCACAGAGTAAGTACTCTTTTAAGTGTTAAATAAATACCTAGATTTGTTTTTAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001346791 ⟹ NP_001333720

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI

Sequence:

show sequence

GTGGACTGGGGCCGGATAATGGCGGGCGCTGCAGAAGATGCGCGAGCTCTTTTCCGGGCTGGGGTCTGCGCGGCCCTGGAGGCCTGGCCGGCCTTGCAGATCGCTGTGGAGAATGGCTTCGGGGGTGT
GCACAGCCAGGAGAAGGCCAAGTGGCTGGGGGGTGCAGTGGAGGATTACTTCATGCGCAATGGTGAGTGAATGTGAGGCGCCGCGACCCGCCTGTGTGGGGGTGTGGAGAGGAGGAGCCCCATCCCGC
AGAGCCTGCATTTCCTCTCGAGCAGTTGTGGATTGGTACCTAAAGCTGACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGT
CTGCCCCAGGTGAGCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAA
GACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACG
CTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGT
TTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTT
TTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGG
AGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGA
ATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAG
CCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCA
GGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGG
GCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCCTGAAATAAACTGTATTTTTCTTAAAAAAAAAAAAACACACAAAA
AAACACAAAAAACTGAGTATCCATTGTCCTCCCCCCTGTTTCCCTGTCCTGCCCGCTGGCCCTGCCATGGGTCTGGACGATAAAATACTGGGTAGCCTTGGGGCCGGGTAGAAGCTGTAAGCCATGGG
AGAGGCAGGAGAGGTCTAGTTGCCACCCCACGTGGAGTTGTACGTGTGAAGACACTGGCTGAGGAGGCAGGGCTGGGTCGGGGCCCCAGGGTCAGTGGCAGAGCTGGCACTTGAATCCAGGTCTCCTA
CCTCTGGTGCTTTGTGGGGAACTGGGTGGAGGCAGGATCTGTGGTAGGGTATTGAGGGATGAGGGAGAAAAACGACCTAATTCAGGTAGGACTGGCAACGGCTCCCACCCTCCCTGGGGACAGGGATT
AATAAAAATTGACATCACTGTAGGAATATATTTTTTAAAAGCCCACGTTTTGTGAAAAGATGAATTAAAAAACCCAAGACCCAGCATTCGGGATTGAAAGTGCCCGTGATGGGAGTTCAAGTATTGAC
TGAGCTGGGAGGGAAGGGGCTAGAGCCCCCAATCAGACATGGGCAACTAGAGTGTGGGGTGGGGGCTCCCAGTTTGTCCCAAACCCTCTAGGTCTTGTCTCGGGTCTGGGGGGATTCGGGGGGTTCAG
CAGTGGCTCCTAAAGCAGCCACCGGTGCCTCCTCCATCTCCCTGTCCTCAGACAGTGTGGGCCCCGGGCAGAACGTGTCCCCTCGGCCCGCCCGGCCAAGCACAGCCATCCAGCGTCGCTGTAGTTCC
TCTGTCTCAGGGCTGAAGTACCAGCTGAGGTGGCTCTGGGTGATCTTGAAGACATGCCTTCTGTCAGGCCGCTCCCCTGCCTCGGGCGGTCCCACCTCGAAGCCAATGAGGGGCAGGCTGCGCTGGGC
TTTCACATCCTGGCGGGAGGAGGGACAGAGCTGGGGCCACCTTGGGGCTAGACCTTTCCCCCGCCCCAGCTTCTAACTGGTTTTGCATATGCTCTGTCTTCAGTCCCCTACTCAGGAACTCCCCTACT
CAGGAACCTTCCGTGGCTCCAGTGTTATCAACAGGAACATGTCAGAACTGGGGCTAAAATGCAGGCTGGTTTAAATACCTGTCTCCCCCCACCCCCGCCTCTTCTCACAAAACTGCTGGGCTAGTCTC
TTTAGCATACCAAATAATGTTTTCAGGCCTTTGTCTATGCTATTGCCCCTATCTGCATACTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAA
CTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACACGTCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT
TTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGAGCCACCTGCCTCGGCCTCTCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGTCCCATCTGCATACTCTTACCCAC
TCCAAATTGGACCTAGCAGTTCCCCATCTCTACTCCTTCCAGGAAGCCAGGCCCACAACTCATCCTGGTTTTCCCTACATACCACAACCACTCCTTGTCTCTAGCCAGTCTTTGTCTCTCAAGGGTTG
GGGTTCTGATTTCCTCTTAGAGATAGGCTCACCTTATCTTCCAAGGCTCACCTTATCTTCCAAGGCCAAGGAGAGGTCAAGGACTGGATCTGGCTTTGCCAGGTGGCTGAAAGGACCCGAAGGAGTAG
GATGCATACCTGAGGGGCTCCGTAGATATACAGCACCAAGGGTTCATTTTCAGGGACCACGAACCATGCCTTGTGCCATCCTTTGCCACCCTTCTCCATGTAGTGCAGGAAGCTGCAGATGACGCTGT
TCTCTGCAGCCACTGAGGCCTGTTTCTGTGGCCAGAGACACCGGGCATCAATGTTGACAGAAGGCCTAGCCTGGCTCCTCCTAGCTTTAATACCTCCTCAGTGTAGGGACTGCTATTCCTATCTCAGA
TGAAGACGCTCAAGCTCAGGTGGCAGGAGTGATTTGTCCAGTGCCACCCAGTGAATCAGCTAGAGCTGAGATTCAAAGCTAGGTTCGTCTGCCTCATTTGGGCAACGGCTGCTGCCTCTACAGGCCAG
TGGAAGGAGTGTGCGGATCTCAGGCATTCTTTCTTCAGTCAGAGCATTCATTCCTCAAGCCATTCACACATTTAGGCCTCATGCTTTTTTCTGTCTTTCATCACATCCATTTCCTACACTCATTGAGA
GGTAATCTAGCATTGTGGTTTTAAGGGGGTATGTGGGTGGTTAATGAAGTCTGGCTTAGAATCCCAGCTCTAGATGAAAATGTATTGACTTGGAGAGCAAAGAGAGCTGATGTGAGAATTAAATGAAT
TAATATATGCAAAGTGCTTAGAATAGTTCCTGGCACAGAGTAAGTACTCTTTTAAGTGTTAAATAAATACCTAGATTTGTTTTTAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001346792 ⟹ NP_001333721

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI

Sequence:

show sequence

GTGGACTGGGGCCGGATAATGGCGGGCGCTGCAGAAGATGCGCGAGCTCTTTTCCGGGCTGGGGTCTGCGCGGCCCTGGAGGCCTGGCCGGCCTTGCAGCTGACTTGGAGCTAGATGAGGTGGAAGAC
TTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGTCTGCCCCAGGTGAGCCAGCAACTGCAGACCATGTTCCACCACTTCCAGAGGGGTGATGGGGCTGCTCTGAGGGA
GATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAAGACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGGAAGAGATGGAGGTCACAGCTACGAATG
ATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACGCTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATTGTCCGGAGAAAAAAATGAGTGGGGATG
ATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGTTTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCACCCTCTCCCCTGTTCCTCTGTCTGGCT
CCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTTTTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAGCCGGGTTCCCCAGTACAGTGTCTTTTG
GGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGGAGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGGATCAGCAGCAGCAGCAGTACTCAGTGA
TAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGAATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACCCCACCCCACACACACGCAACAGCTCTG
TACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAGCCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTGGTGAGCTTGGAAGAGCTGGGCTTTGTT
TTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCAGGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCTGTGGCTTGACCTGTGAGTAGTAGCCTT
AGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGGGCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGAACGGAGCACAGCAGTGCTATGAAAGTT
ACTGTAAGCCTGAAATAAACTGTATTTTTCTTAAAAAAAAAAAAACACACAAAAAAACACAAAAAACTGAGTATCCATTGTCCTCCCCCCTGTTTCCCTGTCCTGCCCGCTGGCCCTGCCATGGGTCT
GGACGATAAAATACTGGGTAGCCTTGGGGCCGGGTAGAAGCTGTAAGCCATGGGAGAGGCAGGAGAGGTCTAGTTGCCACCCCACGTGGAGTTGTACGTGTGAAGACACTGGCTGAGGAGGCAGGGCT
GGGTCGGGGCCCCAGGGTCAGTGGCAGAGCTGGCACTTGAATCCAGGTCTCCTACCTCTGGTGCTTTGTGGGGAACTGGGTGGAGGCAGGATCTGTGGTAGGGTATTGAGGGATGAGGGAGAAAAACG
ACCTAATTCAGGTAGGACTGGCAACGGCTCCCACCCTCCCTGGGGACAGGGATTAATAAAAATTGACATCACTGTAGGAATATATTTTTTAAAAGCCCACGTTTTGTGAAAAGATGAATTAAAAAACC
CAAGACCCAGCATTCGGGATTGAAAGTGCCCGTGATGGGAGTTCAAGTATTGACTGAGCTGGGAGGGAAGGGGCTAGAGCCCCCAATCAGACATGGGCAACTAGAGTGTGGGGTGGGGGCTCCCAGTT
TGTCCCAAACCCTCTAGGTCTTGTCTCGGGTCTGGGGGGATTCGGGGGGTTCAGCAGTGGCTCCTAAAGCAGCCACCGGTGCCTCCTCCATCTCCCTGTCCTCAGACAGTGTGGGCCCCGGGCAGAAC
GTGTCCCCTCGGCCCGCCCGGCCAAGCACAGCCATCCAGCGTCGCTGTAGTTCCTCTGTCTCAGGGCTGAAGTACCAGCTGAGGTGGCTCTGGGTGATCTTGAAGACATGCCTTCTGTCAGGCCGCTC
CCCTGCCTCGGGCGGTCCCACCTCGAAGCCAATGAGGGGCAGGCTGCGCTGGGCTTTCACATCCTGGCGGGAGGAGGGACAGAGCTGGGGCCACCTTGGGGCTAGACCTTTCCCCCGCCCCAGCTTCT
AACTGGTTTTGCATATGCTCTGTCTTCAGTCCCCTACTCAGGAACTCCCCTACTCAGGAACCTTCCGTGGCTCCAGTGTTATCAACAGGAACATGTCAGAACTGGGGCTAAAATGCAGGCTGGTTTAA
ATACCTGTCTCCCCCCACCCCCGCCTCTTCTCACAAAACTGCTGGGCTAGTCTCTTTAGCATACCAAATAATGTTTTCAGGCCTTTGTCTATGCTATTGCCCCTATCTGCATACTTTTTTTTTTTTTT
TTTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTA
CAGGCACACGTCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGAGCCACCTGCCTCGGCCTCTCAGAGTGCT
GGGATTACAGGCGTGAGCCACTGCGCTCGGTCCCATCTGCATACTCTTACCCACTCCAAATTGGACCTAGCAGTTCCCCATCTCTACTCCTTCCAGGAAGCCAGGCCCACAACTCATCCTGGTTTTCC
CTACATACCACAACCACTCCTTGTCTCTAGCCAGTCTTTGTCTCTCAAGGGTTGGGGTTCTGATTTCCTCTTAGAGATAGGCTCACCTTATCTTCCAAGGCTCACCTTATCTTCCAAGGCCAAGGAGA
GGTCAAGGACTGGATCTGGCTTTGCCAGGTGGCTGAAAGGACCCGAAGGAGTAGGATGCATACCTGAGGGGCTCCGTAGATATACAGCACCAAGGGTTCATTTTCAGGGACCACGAACCATGCCTTGT
GCCATCCTTTGCCACCCTTCTCCATGTAGTGCAGGAAGCTGCAGATGACGCTGTTCTCTGCAGCCACTGAGGCCTGTTTCTGTGGCCAGAGACACCGGGCATCAATGTTGACAGAAGGCCTAGCCTGG
CTCCTCCTAGCTTTAATACCTCCTCAGTGTAGGGACTGCTATTCCTATCTCAGATGAAGACGCTCAAGCTCAGGTGGCAGGAGTGATTTGTCCAGTGCCACCCAGTGAATCAGCTAGAGCTGAGATTC
AAAGCTAGGTTCGTCTGCCTCATTTGGGCAACGGCTGCTGCCTCTACAGGCCAGTGGAAGGAGTGTGCGGATCTCAGGCATTCTTTCTTCAGTCAGAGCATTCATTCCTCAAGCCATTCACACATTTA
GGCCTCATGCTTTTTTCTGTCTTTCATCACATCCATTTCCTACACTCATTGAGAGGTAATCTAGCATTGTGGTTTTAAGGGGGTATGTGGGTGGTTAATGAAGTCTGGCTTAGAATCCCAGCTCTAGA
TGAAAATGTATTGACTTGGAGAGCAAAGAGAGCTGATGTGAGAATTAAATGAATTAATATATGCAAAGTGCTTAGAATAGTTCCTGGCACAGAGTAAGTACTCTTTTAAGTGTTAAATAAATACCTAG
ATTTGTTTTTAAAAAAA

hide sequence

RefSeq Acc Id:

NM_058163 ⟹ NP_477511

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,404 - 54,448,032 (+)	NCBI
GRCh37	X	54,466,853 - 54,471,730 (+)	RGD
Build 36	X	54,483,578 - 54,488,455 (+)	NCBI Archive
Celera	X	58,299,414 - 58,304,291 (+)	RGD
HuRef	X	51,518,075 - 51,522,307 (+)	ENTREZGENE
CHM1_1	X	54,457,507 - 54,462,384 (+)	NCBI
T2T-CHM13v2.0	X	53,731,260 - 53,738,888 (+)	NCBI

Sequence:

show sequence

GTGGACTGGGGCCGGATAATGGCGGGCGCTGCAGAAGATGCGCGAGCTCTTTTCCGGGCTGGGG
TCTGCGCGGCCCTGGAGGCCTGGCCGGCCTTGCAGATCGCTGTGGAGAATGGCTTCGGGGGTGTGCACAGCCAGGAGAAGGCCAAGTGGCTGGGGGGTGCAGTGGAGGATTACTTCATGCGCAATGCT
GACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGACCAACGAGTTTGATACAGTTGTGGAAGACGGGAGTCTGCCCCAGGTGAGCCAGCAACTGCAGACCATGTTCCACCACTTCCA
GAGGGGTGATGGGGCTGCTCTGAGGGAGATGGCCTCCTGCATCACTCAGAGAAAATGCAAGGTCACAGCCACTGCACTTAAGACAGCTAGAGAGACTGATGAGGATGAAGATGATGTGGACAGTGTGG
AAGAGATGGAGGTCACAGCTACGAATGATGGGGCTGCTACAGATGGGGTCTGCCCCCAGCCTGAACCCTCTGATCCAGACGCTCAGACTATTAAGGAAGAGGATATAGTGGAAGATGGCTGGACCATT
GTCCGGAGAAAAAAATGAGTGGGGATGATTGGAAATGGCTTTGGGCCCTTATTTGCTGTTCTAAGAGTTGTCTGTAGGGGTTTTTTTTTTGAGGATTGCAGACCTGTGGACTGGTTACCCCATCTCCA
CCCTCTCCCCTGTTCCTCTGTCTGGCTCCCTCCAGGGCAAGGAAAACCTAGGGTCCTTGGTCTTGGGGGTGGGGGGACCTTTTCCAGCATATTCCCCTGGGCCTTTAGTTAACATCCGAGTGACGAAG
CCGGGTTCCCCAGTACAGTGTCTTTTGGGTGCGGTCATTGTGAGGAAGGGGATGAGTGAGTGTGGGTGTGGCTGGAGGAGGAGCTAGATGCCGGTGGACAGTGGGCAGGTGGATTTGGGGAGGAGAGG
ATCAGCAGCAGCAGCAGTACTCAGTGATAGGGGGCTGGCTGGGTCAGGAATGGTGAGATGAACATGCAAGTGGAAGAGAGAATAGTTGAAAATGTGAATGAAAGTAGCTCTGGAGCCTCTCCCTTACC
CCACCCCACACACACGCAACAGCTCTGTACCCCTGCCCAGAACTTGGAACCTCCCAGGAATGCTGCCTTCCTTCAGCCCAGCCTCCAGTCCTGGGTTCCCTCAGGAATTCGAAGACCTTGGCTAGGTG
GTGAGCTTGGAAGAGCTGGGCTTTGTTTTCTGTCTCCTCTAACCTCTTTCCTTACTCCTTATCCCATCCCATTTGAGTTCAGGGGTGAGGCTTAAGATCTTAATAAATAATACCTTACTGCTTAATCT
GTGGCTTGACCTGTGAGTAGTAGCCTTAGAATCAGCCTTCTGGGAGCTCAGCTTCAGAGTTTACAAGGGAGCAGTTTCTGGGCCCACCCTAGCAGCCTGGTACTTTGGACAACCAAACAGATGAACGA
ACGGAGCACAGCAGTGCTATGAAAGTTACTGTAAGCCTGAAATAAACTGTATTTTTCTTAAAAAAAAAAAAACACACAAAAAAACACAAAAAACTGAGTATCCATTGTCCTCCCCCCTGTTTCCCTGT
CCTGCCCGCTGGCCCTGCCATGGGTCTGGACGATAAAATACTGGGTAGCCTTGGGGCCGGGTAGAAGCTGTAAGCCATGGGAGAGGCAGGAGAGGTCTAGTTGCCACCCCACGTGGAGTTGTACGTGT
GAAGACACTGGCTGAGGAGGCAGGGCTGGGTCGGGGCCCCAGGGTCAGTGGCAGAGCTGGCACTTGAATCCAGGTCTCCTACCTCTGGTGCTTTGTGGGGAACTGGGTGGAGGCAGGATCTGTGGTAG
GGTATTGAGGGATGAGGGAGAAAAACGACCTAATTCAGGTAGGACTGGCAACGGCTCCCACCCTCCCTGGGGACAGGGATTAATAAAAATTGACATCACTGTAGGAATATATTTTTTAAAAGCCCACG
TTTTGTGAAAAGATGAATTAAAAAACCCAAGACCCAGCATTCGGGATTGAAAGTGCCCGTGATGGGAGTTCAAGTATTGACTGAGCTGGGAGGGAAGGGGCTAGAGCCCCCAATCAGACATGGGCAAC
TAGAGTGTGGGGTGGGGGCTCCCAGTTTGTCCCAAACCCTCTAGGTCTTGTCTCGGGTCTGGGGGGATTCGGGGGGTTCAGCAGTGGCTCCTAAAGCAGCCACCGGTGCCTCCTCCATCTCCCTGTCC
TCAGACAGTGTGGGCCCCGGGCAGAACGTGTCCCCTCGGCCCGCCCGGCCAAGCACAGCCATCCAGCGTCGCTGTAGTTCCTCTGTCTCAGGGCTGAAGTACCAGCTGAGGTGGCTCTGGGTGATCTT
GAAGACATGCCTTCTGTCAGGCCGCTCCCCTGCCTCGGGCGGTCCCACCTCGAAGCCAATGAGGGGCAGGCTGCGCTGGGCTTTCACATCCTGGCGGGAGGAGGGACAGAGCTGGGGCCACCTTGGGG
CTAGACCTTTCCCCCGCCCCAGCTTCTAACTGGTTTTGCATATGCTCTGTCTTCAGTCCCCTACTCAGGAACTCCCCTACTCAGGAACCTTCCGTGGCTCCAGTGTTATCAACAGGAACATGTCAGAA
CTGGGGCTAAAATGCAGGCTGGTTTAAATACCTGTCTCCCCCCACCCCCGCCTCTTCTCACAAAACTGCTGGGCTAGTCTCTTTAGCATACCAAATAATGTTTTCAGGCCTTTGTCTATGCTATTGCC
CCTATCTGCATACTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTCCTG
CCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACACGTCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGAG
CCACCTGCCTCGGCCTCTCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGTCCCATCTGCATACTCTTACCCACTCCAAATTGGACCTAGCAGTTCCCCATCTCTACTCCTTCCAGGAAGC
CAGGCCCACAACTCATCCTGGTTTTCCCTACATACCACAACCACTCCTTGTCTCTAGCCAGTCTTTGTCTCTCAAGGGTTGGGGTTCTGATTTCCTCTTAGAGATAGGCTCACCTTATCTTCCAAGGC
TCACCTTATCTTCCAAGGCCAAGGAGAGGTCAAGGACTGGATCTGGCTTTGCCAGGTGGCTGAAAGGACCCGAAGGAGTAGGATGCATACCTGAGGGGCTCCGTAGATATACAGCACCAAGGGTTCAT
TTTCAGGGACCACGAACCATGCCTTGTGCCATCCTTTGCCACCCTTCTCCATGTAGTGCAGGAAGCTGCAGATGACGCTGTTCTCTGCAGCCACTGAGGCCTGTTTCTGTGGCCAGAGACACCGGGCA
TCAATGTTGACAGAAGGCCTAGCCTGGCTCCTCCTAGCTTTAATACCTCCTCAGTGTAGGGACTGCTATTCCTATCTCAGATGAAGACGCTCAAGCTCAGGTGGCAGGAGTGATTTGTCCAGTGCCAC
CCAGTGAATCAGCTAGAGCTGAGATTCAAAGCTAGGTTCGTCTGCCTCATTTGGGCAACGGCTGCTGCCTCTACAGGCCAGTGGAAGGAGTGTGCGGATCTCAGGCATTCTTTCTTCAGTCAGAGCAT
TCATTCCTCAAGCCATTCACACATTTAGGCCTCATGCTTTTTTCTGTCTTTCATCACATCCATTTCCTACACTCATTGAGAGGTAATCTAGCATTGTGGTTTTAAGGGGGTATGTGGGTGGTTAATGA
AGTCTGGCTTAGAATCCCAGCTCTAGATGAAAATGTATTGACTTGGAGAGCAAAGAGAGCTGATGTGAGAATTAAATGAATTAATATATGCAAAGTGCTTAGAATAGTTCCTGGCACAGAGTAAGTAC
TCTTTTAAGTGTTAAATAAATACCTAGATTTGTTTTTAAAAAAA

hide sequence


Protein RefSeqs	NP_001333718	(Get FASTA)	NCBI Sequence Viewer
	NP_001333719	(Get FASTA)	NCBI Sequence Viewer
	NP_001333720	(Get FASTA)	NCBI Sequence Viewer
	NP_001333721	(Get FASTA)	NCBI Sequence Viewer
	NP_477511	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07699	(Get FASTA)	NCBI Sequence Viewer
	AAH11825	(Get FASTA)	NCBI Sequence Viewer
	EAW93177	(Get FASTA)	NCBI Sequence Viewer
	EAW93178	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000364293
	ENSP00000364293.4
GenBank Protein	Q969E8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_477511 ⟸ NM_058163
- Peptide Label:	isoform a
- UniProtKB:	Q969E8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDEVEDFLGELLTNEFDTVVEDGSLPQVSQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALK TARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK hide sequence

RefSeq Acc Id:	NP_001333720 ⟸ NM_001346791
- Peptide Label:	isoform c
- Sequence:	show sequence MFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDG VCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK hide sequence

RefSeq Acc Id:	NP_001333719 ⟸ NM_001346790
- Peptide Label:	isoform c
- Sequence:	show sequence MFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDG VCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK hide sequence

RefSeq Acc Id:	NP_001333718 ⟸ NM_001346789
- Peptide Label:	isoform b
- Sequence:	show sequence MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDE VEDFLGELLTNEFDTVVEDGSLPQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK hide sequence

RefSeq Acc Id:	NP_001333721 ⟸ NM_001346792
- Peptide Label:	isoform c
- Sequence:	show sequence MFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q969E8-F1-model_v2	AlphaFold	Q969E8	1-191	view protein structure

RGD ID:

13605402

Promoter ID:

EPDNEW_H28885

Type:

multiple initiation site

Name:

TSR2_1

Description:

TSR2, ribosome maturation factor

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	54,440,406 - 54,440,466	EPDNEW

RGD ID:

6809345

Promoter ID:

HG_KWN:66965

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000056802, UC004DTF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	54,483,451 - 54,483,957 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TSR2	COSMIC
Ensembl Genes	ENSG00000158526	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000375151	ENTREZGENE
	ENST00000375151.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000158526	GTEx
HGNC ID	HGNC:25455	ENTREZGENE
Human Proteome Map	TSR2	Human Proteome Map
InterPro	Pre-rRNA_process_TSR2	UniProtKB/Swiss-Prot
KEGG Report	hsa:90121	UniProtKB/Swiss-Prot
NCBI Gene	90121	ENTREZGENE
OMIM	300945	OMIM
PANTHER	PTHR21250	UniProtKB/Swiss-Prot
Pfam	WGG	UniProtKB/Swiss-Prot
PharmGKB	PA145147877	PharmGKB
UniProt	Q969E8	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	TSR2	TSR2 ribosome maturation factor		TSR2, ribosome maturation factor	Symbol and/or name change	5135510	APPROVED
2016-04-26	TSR2	TSR2, ribosome maturation factor		TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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