GSS (glutathione synthetase) - Rat Genome Database

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

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| FTP Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: GSS (glutathione synthetase) Homo sapiens

Analyze

Symbol:

GSS

Name:

glutathione synthetase

RGD ID:

735330

HGNC Page

HGNC

Description:

Exhibits anion binding activity; magnesium ion binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including cellular amino acid metabolic process; glutathione biosynthetic process; and response to oxidative stress. Localizes to extracellular exosome. Implicated in Alzheimer's disease and glutathione synthetase deficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

epididymis secretory sperm binding protein Li 64p; epididymis secretory sperm binding protein Li 88n; glutathione synthase; GSH synthetase; GSH-S; GSHS; HEL-S-64p; HEL-S-88n; MGC14098

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):	Gss (glutathione synthetase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gss (glutathione synthetase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gss (glutathione synthetase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GSS (glutathione synthetase)	NCBI	Ortholog
Canis lupus familiaris (dog):	GSS (glutathione synthetase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gss (glutathione synthetase)	NCBI	Ortholog
Sus scrofa (pig):	GSS (glutathione synthetase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	GSS (glutathione synthetase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gss (glutathione synthetase)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gss (glutathione synthetase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Gss (glutathione synthetase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	gss (glutathione synthetase)	Alliance	DIOPT (Ensembl Compara\|OMA\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GSH2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	Gss1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	gss-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)

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	20	34,928,432 - 34,956,027 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	20	34,928,432 - 34,956,027 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	20	33,516,236 - 33,543,794 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	32,979,897 - 33,007,262 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	20	32,979,897 - 33,007,262	NCBI
Celera	20	30,265,329 - 30,292,695 (-)	NCBI
Cytogenetic Map	20	q11.22	NCBI
HuRef	20	30,294,556 - 30,321,979 (-)	NCBI		HuRef
CHM1_1	20	33,417,456 - 33,445,055 (-)	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

Alzheimer's disease (IDA)

Animal Mammary Neoplasms (EXP)

carcinoma (EXP)

contact dermatitis (EXP)

Experimental Pancreatitis, Acute (ISO)

glutathione synthetase deficiency (IAGP)

Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes (IAGP)

long QT syndrome (IAGP)

Mammary Neoplasms, Experimental (EXP)

mouth disease (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP,ISO)

(-)-quinic acid (EXP)

(R)-lipoic acid (ISO)

1,2-dimethylhydrazine (ISO)

1,4-benzoquinone (EXP)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

1H-pyrazole (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-trinitrotoluene (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-acetamidofluorene (ISO)

2-nitrofluorene (ISO)

2-tert-butylhydroquinone (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,7-dihydropurine-6-thione (EXP)

3-chloropropane-1,2-diol (ISO)

3-methylcholanthrene (ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ISO)

4-amino-2,6-dinitrotoluene (ISO)

4-hydroxynon-2-enal (ISO)

7,12-dimethyltetraphene (ISO)

acrylamide (ISO)

aflatoxin B1 (ISO)

alpha-D-galactose (EXP)

ammonium chloride (ISO)

Anetholtrithion (EXP)

arecoline (EXP)

arsane (EXP)

arsenic atom (EXP)

azathioprine (EXP)

benzo[a]pyrene (ISO)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (ISO)

butan-1-ol (EXP)

cadmium dichloride (EXP,ISO)

cadmium sulfide (EXP)

celecoxib (ISO)

chloroprene (ISO)

chlorpyrifos (ISO)

cisplatin (EXP,ISO)

clofibrate (ISO)

cobalt dichloride (EXP)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

copper(II) sulfate (EXP)

curcumin (ISO)

dextran sulfate (ISO)

dibutyl phthalate (ISO)

dichlorine (ISO)

diethyl malate (ISO)

diethyl maleate (ISO)

diethylstilbestrol (ISO)

enilconazole (ISO)

erdosteine (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenamidone (ISO)

flutamide (ISO)

folic acid (ISO)

formaldehyde (EXP)

furan (ISO)

galactose (EXP)

genistein (EXP)

glafenine (ISO)

glutathione (EXP)

Hexachloro-1,3-butadiene (ISO)

hydrogen peroxide (EXP)

hydroquinone (EXP)

hypochlorous acid (ISO)

iron atom (EXP)

iron(0) (EXP)

lead diacetate (ISO)

leflunomide (ISO)

lipoic acid (ISO)

lithocholic acid (EXP)

LY294002 (EXP)

mercaptopurine (EXP)

mercury atom (EXP)

mercury(0) (EXP)

methapyrilene (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP,ISO)

microcystin-LR (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (ISO)

N-methyl-N'-nitro-N-nitrosoguanidine (EXP)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

N-nitrosomorpholine (ISO)

naphthalene (ISO)

nefazodone (ISO)

nimesulide (ISO)

nitrogen dioxide (ISO)

ochratoxin A (ISO)

oligopeptide (ISO)

ozone (ISO)

paracetamol (ISO)

paraoxon (EXP)

paraquat (ISO)

pentachlorophenol (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (ISO)

PhIP (ISO)

piperonyl butoxide (ISO)

pirinixic acid (ISO)

purine-6-thiol (EXP)

quercetin (ISO)

rotenone (ISO)

S-adenosyl-L-methioninate (EXP)

S-adenosyl-L-methionine (EXP)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

sodium arsenite (EXP)

sodium fluoride (ISO)

sunitinib (ISO)

T-2 toxin (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

toluene (ISO)

triclosan (EXP)

tris(2-butoxyethyl) phosphate (ISO)

trovafloxacin (ISO)

ursodeoxycholic acid (EXP)

valdecoxib (ISO)

valproic acid (EXP)

vinclozolin (ISO)

zinc oxide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aging (IEA)

cellular amino acid metabolic process (TAS)

glutathione biosynthetic process (IEA,TAS)

nervous system development (TAS)

response to amino acid (IEA)

response to cadmium ion (IEA)

response to nutrient levels (IEA)

response to oxidative stress (TAS)

response to tumor necrosis factor (IEA)

response to xenobiotic stimulus (IEA)

Cellular Component

cytosol (IBA,TAS)

extracellular exosome (HDA)

Molecular Function

ATP binding (IDA,IEA)

glutathione binding (IBA,IDA,IEA)

glutathione synthase activity (IBA,IEA)

glycine binding (IEA)

identical protein binding (IPI)

magnesium ion binding (IDA,IEA)

metal ion binding (IEA)

peptide binding (ISO)

protein binding (IPI)

protein homodimerization activity (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

2-hydroxyglutaric aciduria pathway (EXP)

glutamic acid/glutamate metabolic pathway (EXP)

glutathione metabolic pathway (EXP,IEA)

glutathione synthase deficiency pathway (EXP)

glutathionuria disease pathway (EXP)

homocarnosinosis pathway (EXP)

succinic semialdehyde dehydrogenase deficiency pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Chronic metabolic acidosis (IAGP)

Dysarthria (IAGP)

Glyoxalase deficiency (IAGP)

Hemolytic anemia (IAGP)

Increased level of L-pyroglutamic acid in urine (IAGP)

Intellectual disability (IAGP)

Intention tremor (IAGP)

Neutropenia (IAGP)

Pigmentary retinopathy (IAGP)

Psychotic mentation (IAGP)

Reduced glutathione synthetase level (IAGP)

Seizure (IAGP)

Spastic tetraparesis (IAGP)

References

References - curated


1.	Dahl N, etal., Hum Mol Genet 1997 Jul;6(7):1147-52.
2.	GOA_HUMAN data from the GO Consortium
3.	He ZY and Guo RX, Hepatobiliary Pancreat Dis Int. 2007 Oct;6(5):537-43.
4.	KEGG
5.	Liu H, etal., J Neurosci Res. 2005 Mar 15;79(6):861-7.
6.	OMIM Disease Annotation Pipeline
7.	Pipeline to import KEGG annotations from KEGG into RGD
8.	Pipeline to import SMPDB annotations from SMPDB into RGD
9.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	RGD automated import pipeline for gene-chemical interactions
11.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	Shi ZZ, etal., Nat Genet. 1996 Nov;14(3):361-5.

Additional References at PubMed

PMID:465367	PMID:1518371	PMID:6112263	PMID:6137189	PMID:7646467	PMID:8825653	PMID:9501919	PMID:10369661	PMID:10450861	PMID:10652368	PMID:10756096	PMID:10861239
PMID:11167850	PMID:11780052	PMID:12477932	PMID:12638941	PMID:14990577	PMID:15173170	PMID:15489334	PMID:15890065	PMID:17206463	PMID:17234469	PMID:17503480	PMID:17601350
PMID:18977241	PMID:19056867	PMID:19111905	PMID:19672693	PMID:19913121	PMID:20200426	PMID:20413906	PMID:20439344	PMID:20485444	PMID:20628086	PMID:20800579	PMID:20802163
PMID:21044950	PMID:21105962	PMID:21683691	PMID:21771585	PMID:21873635	PMID:21988832	PMID:22443383	PMID:22863883	PMID:22939629	PMID:23376485	PMID:23533145	PMID:24323765
PMID:24480751	PMID:25070563	PMID:25416956	PMID:25851338	PMID:25851806	PMID:26059756	PMID:26344197	PMID:26669244	PMID:26871637	PMID:28849249	PMID:31741433	PMID:31881666
PMID:32296183	PMID:32694731

Genomics

Comparative Map Data

GSS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	20	34,928,432 - 34,956,027 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	20	34,928,432 - 34,956,027 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	20	33,516,236 - 33,543,794 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	32,979,897 - 33,007,262 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	20	32,979,897 - 33,007,262	NCBI
Celera	20	30,265,329 - 30,292,695 (-)	NCBI
Cytogenetic Map	20	q11.22	NCBI
HuRef	20	30,294,556 - 30,321,979 (-)	NCBI		HuRef
CHM1_1	20	33,417,456 - 33,445,055 (-)	NCBI		CHM1_1

Gss
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	155,405,101 - 155,434,730 (-)	NCBI	GRCm39		mm39
GRCm38	2	155,563,181 - 155,592,810 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	155,563,181 - 155,592,810 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	155,388,919 - 155,418,442 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	2	155,254,624 - 155,284,147 (-)	NCBI			mm8
Celera	2	161,495,432 - 161,524,969 (-)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI

Gss
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	3	151,076,254 - 151,106,557 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	151,076,254 - 151,106,557 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	157,443,738 - 157,474,042 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	146,057,517 - 146,087,820 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	3	145,963,138 - 145,993,442 (-)	NCBI
Celera	3	142,772,407 - 142,802,700 (-)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Gss
(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_004955422	26,427,581 - 26,463,781 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	26,427,581 - 26,483,380 (+)	NCBI	ChiLan1.0	ChiLan1.0

GSS
(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	20	32,381,745 - 32,409,327 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	32,381,745 - 32,409,297 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	20	31,256,734 - 31,284,356 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

GSS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	24	23,901,045 - 23,997,286 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	24	23,973,807 - 24,000,281 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Gss
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936561	5,765,637 - 5,793,951 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GSS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	38,312,720 - 38,342,304 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	38,316,199 - 38,342,253 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	43,511,098 - 43,539,281 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GSS
(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	2	39,230,629 - 39,258,511 (-)	NCBI
ChlSab1.1 Ensembl	2	39,230,487 - 39,254,648 (-)	Ensembl

Gss
(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_004624842	4,445,015 - 4,470,124 (+)	NCBI

Position Markers

A006I18

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	33,516,255 - 33,516,531	UniSTS	GRCh37
Build 36	20	32,979,916 - 32,980,192	RGD	NCBI36
Celera	20	30,265,348 - 30,265,624	RGD
Cytogenetic Map	20	q11.2	UniSTS
HuRef	20	30,294,575 - 30,294,851	UniSTS
GeneMap99-GB4 RH Map	20	200.16	UniSTS

MARC_11817-11818:1029268323:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	33,516,715 - 33,517,351	UniSTS	GRCh37
Celera	20	30,265,808 - 30,266,444	UniSTS
HuRef	20	30,295,035 - 30,295,671	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	918
Count of miRNA genes:	459
Interacting mature miRNAs:	507
Transcripts:	ENST00000216951, ENST00000451957, ENST00000541098
Prediction methods:	Microtar, 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.

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

2437

2609

1720

618

1695

459

4280

2009

3487

417

1458

1613

175

1202

2712

Low

382

256

188

247

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB459500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF485789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU076581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC328543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ074975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU668322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU794618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U34683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000451957 ⟹ ENSP00000407517

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,828 - 34,951,852 (-)	Ensembl

RefSeq Acc Id:

ENST00000642493 ⟹ ENSP00000493524

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,932,026 - 34,955,756 (-)	Ensembl

RefSeq Acc Id:

ENST00000642498 ⟹ ENSP00000493631

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,473 - 34,955,783 (-)	Ensembl

RefSeq Acc Id:

ENST00000642538 ⟹ ENSP00000493927

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,975 - 34,955,788 (-)	Ensembl

RefSeq Acc Id:

ENST00000643188 ⟹ ENSP00000493903

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,479 - 34,956,027 (-)	Ensembl

RefSeq Acc Id:

ENST00000643203

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,951,482 - 34,955,808 (-)	Ensembl

RefSeq Acc Id:

ENST00000643271 ⟹ ENSP00000496125

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,942,577 - 34,952,843 (-)	Ensembl

RefSeq Acc Id:

ENST00000643443 ⟹ ENSP00000495572

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,806 - 34,955,755 (-)	Ensembl

RefSeq Acc Id:

ENST00000643502 ⟹ ENSP00000494819

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,600 - 34,942,980 (-)	Ensembl

RefSeq Acc Id:

ENST00000643628

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,949,429 - 34,955,783 (-)	Ensembl

RefSeq Acc Id:

ENST00000643690

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,942,661 - 34,955,783 (-)	Ensembl

RefSeq Acc Id:

ENST00000643908

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,473 - 34,955,778 (-)	Ensembl

RefSeq Acc Id:

ENST00000644197

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,942,626 - 34,955,790 (-)	Ensembl

RefSeq Acc Id:

ENST00000644538

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,750 - 34,946,729 (-)	Ensembl

RefSeq Acc Id:

ENST00000644608 ⟹ ENSP00000493500

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,951,762 - 34,955,798 (-)	Ensembl

RefSeq Acc Id:

ENST00000644694

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,929,092 - 34,931,583 (-)	Ensembl

RefSeq Acc Id:

ENST00000644793 ⟹ ENSP00000495750

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,479 - 34,955,635 (-)	Ensembl

RefSeq Acc Id:

ENST00000645102 ⟹ ENSP00000495829

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,942,944 - 34,952,317 (-)	Ensembl

RefSeq Acc Id:

ENST00000645328 ⟹ ENSP00000495404

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,571 - 34,937,009 (-)	Ensembl

RefSeq Acc Id:

ENST00000645408 ⟹ ENSP00000496142

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,929,405 - 34,942,578 (-)	Ensembl

RefSeq Acc Id:

ENST00000645723

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,473 - 34,955,643 (-)	Ensembl

RefSeq Acc Id:

ENST00000646405 ⟹ ENSP00000493744

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,444 - 34,955,783 (-)	Ensembl

RefSeq Acc Id:

ENST00000646497

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,932,013 - 34,946,702 (-)	Ensembl

RefSeq Acc Id:

ENST00000646502

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,933,596 - 34,955,409 (-)	Ensembl

RefSeq Acc Id:

ENST00000646512

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,492 - 34,951,762 (-)	Ensembl

RefSeq Acc Id:

ENST00000646735 ⟹ ENSP00000493763

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,433 - 34,955,785 (-)	Ensembl

RefSeq Acc Id:

ENST00000646766 ⟹ ENSP00000494333

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,935,614 - 34,951,864 (-)	Ensembl

RefSeq Acc Id:

ENST00000651619 ⟹ ENSP00000498303

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	34,928,432 - 34,955,806 (-)	Ensembl

RefSeq Acc Id:

NM_000178 ⟹ NP_000169

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	34,928,432 - 34,955,806 (-)	NCBI
GRCh37	20	33,516,236 - 33,543,794 (-)	NCBI
Build 36	20	32,979,897 - 33,007,262 (-)	NCBI Archive
HuRef	20	30,294,556 - 30,321,979 (-)	ENTREZGENE
CHM1_1	20	33,417,456 - 33,444,845 (-)	NCBI

Sequence:

show sequence

AAGCGCACTGGGTCGCATCGAGGCCCCGCCCCCTGAGCCTGGGTAGCGGCGCGAGGGCCGGGAG
AACCGTTCGCGGAGGAAAGGCGAACTAGTGTTGGGATGGCCACCAACTGGGGGAGCCTCTTGCA
GGATAAACAGCAGCTAGAGGAGCTGGCACGGCAGGCCGTGGACCGGGCCCTGGCTGAGGGAGTA
TTGCTGAGGACCTCACAGGAGCCCACTTCCTCGGAGGTGGTGAGCTATGCCCCATTCACGCTCT
TCCCCTCACTGGTCCCCAGTGCCCTGCTGGAGCAAGCCTATGCTGTGCAGATGGACTTCAACCT
GCTAGTGGATGCTGTCAGCCAGAACGCTGCCTTCCTGGAGCAAACTCTTTCCAGCACCATCAAA
CAGGATGACTTTACCGCTCGTCTCTTTGACATCCACAAGCAAGTCCTAAAAGAGGGCATTGCCC
AGACTGTGTTCCTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAGATGGCTCCCC
AGCCCTGAAACAGATCGAAATCAACACCATCTCTGCCAGCTTTGGGGGCCTGGCCTCCCGGACC
CCAGCTGTGCACCGACATGTTCTCAGTGTCCTGAGTAAGACCAAAGAAGCTGGCAAGATCCTCT
CTAATAATCCCAGCAAGGGACTGGCCCTGGGAATTGCCAAAGCCTGGGAGCTCTACGGCTCACC
CAATGCTCTGGTGCTACTGATTGCTCAAGAGAAGGAAAGAAACATATTTGACCAGCGTGCCATA
GAGAATGAGCTACTGGCCAGGAACATCCATGTGATCCGACGAACATTTGAAGATATCTCTGAAA
AGGGGTCTCTGGACCAAGACCGAAGGCTGTTTGTGGATGGCCAGGAAATTGCTGTGGTTTACTT
CCGGGATGGCTACATGCCTCGTCAGTACAGTCTACAGAATTGGGAAGCACGTCTACTGCTGGAG
AGGTCACATGCTGCCAAGTGCCCAGACATTGCCACCCAGCTGGCTGGGACTAAGAAGGTGCAGC
AGGAGCTAAGCAGGCCGGGCATGCTGGAGATGTTGCTCCCTGGCCAGCCTGAGGCTGTGGCCCG
CCTCCGCGCCACCTTTGCTGGCCTCTACTCACTGGATGTGGGTGAAGAAGGGGACCAGGCCATC
GCCGAGGCCCTTGCTGCCCCTAGCCGGTTTGTGCTAAAGCCCCAGAGAGAGGGTGGAGGTAACA
ACCTATATGGGGAGGAAATGGTACAGGCCCTGAAACAGCTGAAGGACAGTGAGGAGAGGGCCTC
CTACATCCTCATGGAGAAGATCGAACCTGAGCCTTTTGAGAATTGCCTGCTACGGCCTGGCAGC
CCTGCCCGAGTGGTCCAGTGCATTTCAGAGCTGGGCATCTTTGGGGTCTATGTCAGGCAGGAAA
AGACACTCGTGATGAACAAGCACGTGGGGCATCTACTTCGAACCAAAGCCATCGAGCATGCAGA
TGGTGGTGTGGCAGCGGGAGTGGCAGTCCTGGACAACCCATACCCTGTGTGAGGGCACAACCAG
GCCACGGGACCTTCTATCCTCTGTATTTGTCATTCCTCTCCTAGCCCTCCTGAGGGGTATCCTC
CTAAAGACCTCCAAAGTTTTTATGGAAGGGTAAATACTGGTACCTTCCCCCAGCTTTCCATCTG
AGGACCAGAAAAGTTGTGTCTCCCTTAGATGAGATCTAGACGCCCCCAAATCCTTGAGATGTGG
GTATAGCTCAGGGTAAGCTGCTCTGAGGTAAAGGTCCATGAACCCTGCCCCACTCCTGTCAGCC
CCTCATCAGCCTTTTCAGCAGGTTCCAGTGCCTGACTTGGGATAGGACTGAGTGGTAGGAGGAG
GGGGAGTGGAGGGGCATAGCCTTTCCCTAATTCTGCCTTAAATAAAACTGCATTGCTGATTCAA
AAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001322494 ⟹ NP_001309423

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	34,928,433 - 34,956,027 (-)	NCBI
CHM1_1	20	33,417,456 - 33,445,055 (-)	NCBI

Sequence:

show sequence

GCTCTATGAGCTATGCATACCCGTAGCTCCCCGCCGACCCCGATGGTCCCCTCCCCTCCTTCCC
AAGGTCCATCCGCCAGGGTGCAGCCGACGCACTCCTAATGCTAAGGCCGCCCTCTCATCGACCG
CCCCTTCCTGGCCTCGACTCAGCGCCAAAGGTGTTGGGATGGCCACCAACTGGGGGAGCCTCTT
GCAGGATAAACAGCAGCTAGAGGAGCTGGCACGGCAGGCCGTGGACCGGGCCCTGGCTGAGGGA
GTATTGCTGAGGACCTCACAGGAGCCCACTTCCTCGGAGGTGGTGAGCTATGCCCCATTCACGC
TCTTCCCCTCACTGGTCCCCAGTGCCCTGCTGGAGCAAGCCTATGCTGTGCAGATGGACTTCAA
CCTGCTAGTGGATGCTGTCAGCCAGAACGCTGCCTTCCTGGAGCAAACTCTTTCCAGCACCATC
AAACAGGATGACTTTACCGCTCGTCTCTTTGACATCCACAAGCAAGTCCTAAAAGAGGGCATTG
CCCAGACTGTGTTCCTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAGATGGCTC
CCCAGCCCTGAAACAGATCGAAATCAACACCATCTCTGCCAGCTTTGGGGGCCTGGCCTCCCGG
ACCCCAGCTGTGCACCGACATGTTCTCAGTGTCCTGAGTAAGACCAAAGAAGCTGGCAAGATCC
TCTCTAATAATCCCAGCAAGGGACTGGCCCTGGGAATTGCCAAAGCCTGGGAGCTCTACGGCTC
ACCCAATGCTCTGGTGCTACTGATTGCTCAAGAGAAGGAAAGAAACATATTTGACCAGCGTGCC
ATAGAGAATGAGCTACTGGCCAGGAACATCCATGTGATCCGACGAACATTTGAAGATATCTCTG
AAAAGGGGTCTCTGGACCAAGACCGAAGGCTGTTTGTGGATGGCCAGGAAATTGCTGTGGTTTA
CTTCCGGGATGGCTACATGCCTCGTCAGTACAGTCTACAGAATTGGGAAGCACGTCTACTGCTG
GAGAGGTCACATGCTGCCAAGTGCCCAGACATTGCCACCCAGCTGGCTGGGACTAAGAAGGTGC
AGCAGGAGCTAAGCAGGCCGGGCATGCTGGAGATGTTGCTCCCTGGCCAGCCTGAGGCTGTGGC
CCGCCTCCGCGCCACCTTTGCTGGCCTCTACTCACTGGATGTGGGTGAAGAAGGGGACCAGGCC
ATCGCCGAGGCCCTTGCTGCCCCTAGCCGGTTTGTGCTAAAGCCCCAGAGAGAGGGTGGAGGTA
ACAACCTATATGGGGAGGAAATGGTACAGGCCCTGAAACAGCTGAAGGACAGTGAGGAGAGGGC
CTCCTACATCCTCATGGAGAAGATCGAACCTGAGCCTTTTGAGAATTGCCTGCTACGGCCTGGC
AGCCCTGCCCGAGTGGTCCAGTGCATTTCAGAGCTGGGCATCTTTGGGGTCTATGTCAGGCAGG
AAAAGACACTCGTGATGAACAAGCACGTGGGGCATCTACTTCGAACCAAAGCCATCGAGCATGC
AGATGGTGGTGTGGCAGCGGGAGTGGCAGTCCTGGACAACCCATACCCTGTGTGAGGGCACAAC
CAGGCCACGGGACCTTCTATCCTCTGTATTTGTCATTCCTCTCCTAGCCCTCCTGAGGGGTATC
CTCCTAAAGACCTCCAAAGTTTTTATGGAAGGGTAAATACTGGTACCTTCCCCCAGCTTTCCAT
CTGAGGACCAGAAAAGTTGTGTCTCCCTTAGATGAGATCTAGACGCCCCCAAATCCTTGAGATG
TGGGTATAGCTCAGGGTAAGCTGCTCTGAGGTAAAGGTCCATGAACCCTGCCCCACTCCTGTCA
GCCCCTCATCAGCCTTTTCAGCAGGTTCCAGTGCCTGACTTGGGATAGGACTGAGTGGTAGGAG
GAGGGGGAGTGGAGGGGCATAGCCTTTCCCTAATTCTGCCTTAAATAAAACTGCATTGCTGATT
CAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001322495 ⟹ NP_001309424

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	34,928,433 - 34,955,635 (-)	NCBI
CHM1_1	20	33,417,456 - 33,444,663 (-)	NCBI

Sequence:

show sequence

GGAGGCCGGGAGACCTTGTGGCTGAAACCCTTCGTAGGAGCGGGGCAACTAGTGTCTAGTGAGG
GGGTTGGGCTGGCGCGCACTGATCCCAGACTTTCCGGATCTTCTGCCTTTAGATCGGGCCGGTG
TCGGGGCATGTAGGCCAGTGAGACTGGAGCCAGTTAGAGCTACAACGGGGAGCGATTAGGGCCA
AACTTTGTCCAGGGTGGAAGCGAGCGGGCCCGTGAAGTGGGGCCAGCCTGGGCAGCCGACCGTG
TCGTTGCCTCGGGGCCTTTCCAGGCACTGGCCTAAGTCCTGGCGATAAAGTGCGACCGATTTCC
TTGTGGGCGTTTTGAGGCTTTCGGTGATCTGACCCGTCTGTCATTCATTCTTCATTCATTCATG
TGATGAATGAATACAGTACTAAGCGCGGCTAATTACTAGGTAGAGAAGTGATCAAGACAAACAC
TGTTCCTACGGTACAGGGAAAAGTGATGGGCTGTAGAATGTAGAAGCCCGGGGCGGAGAACAGG
GACAGCTTCCGGAACGAAATCGCGAGCCCAGATCAGGAGTGGTGGCGAGAGTTCCAAAGAGAAG
ACAGCACGTGCCAAGTCCTGGAAGGGGGACAGAGGCCAACATATCCTGGTCACTGAAGACACCT
GACTCTGAATCTGTTTCACGCCCAGGGAAGAGATGACAGTGGCCGGGGCTAGGCTACAAACTCT
GGAAATGGAGATAAATAAAGGAATTCAAAGTACTATATACTTAGGCAGCAAAATCCATAGGATT
TGGGGAGAGTGAGATGTAGGAAACAAGTACTCAAGGCTTGGGTACCTGGGTGGGGTTCATCAGA
GAAGAAGCAGATTTGTGGGAGACAACAACAAATTCTATTCTGGTTGTATGGAGACTCGCAGGAA
AAAATTGGATATTCTAGTTTGAAGGTGTTGGGATGGCCACCAACTGGGGGAGCCTCTTGCAGGA
TAAACAGCAGCTAGAGGAGCTGGCACGGCAGGCCGTGGACCGGGCCCTGGCTGAGGGAGTATTG
CTGAGGACCTCACAGGAGCCCACTTCCTCGGAGGTGGTGAGCTATGCCCCATTCACGCTCTTCC
CCTCACTGGTCCCCAGTGCCCTGCTGGAGCAAGCCTATGCTGTGCAGATGGACTTCAACCTGCT
AGTGGATGCTGTCAGCCAGAACGCTGCCTTCCTGGAGCAAACTCTTTCCAGCACCATCAAACAG
GATGACTTTACCGCTCGTCTCTTTGACATCCACAAGCAAGTCCTAAAAGAGGGCATTGCCCAGA
CTGTGTTCCTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAGATGGCTCCCCAGC
CCTGAAACAGATCGAAATCAACACCATCTCTGCCAGCTTTGGGGGCCTGGCCTCCCGGACCCCA
GCTGTGCACCGACATGTTCTCAGTGTCCTGAGTAAGACCAAAGAAGCTGGCAAGATCCTCTCTA
ATAATCCCAGCAAGGGACTGGCCCTGGGAATTGCCAAAGCCTGGGAGCTCTACGGCTCACCCAA
TGCTCTGGTGCTACTGATTGCTCAAGAGAAGGAAAGAAACATATTTGACCAGCGTGCCATAGAG
AATGAGCTACTGGCCAGGAACATCCATGTGATCCGACGAACATTTGAAGATATCTCTGAAAAGG
GGTCTCTGGACCAAGACCGAAGGCTGTTTGTGGATGGCCAGGAAATTGCTGTGGTTTACTTCCG
GGATGGCTACATGCCTCGTCAGTACAGTCTACAGAATTGGGAAGCACGTCTACTGCTGGAGAGG
TCACATGCTGCCAAGTGCCCAGACATTGCCACCCAGCTGGCTGGGACTAAGAAGGTGCAGCAGG
AGCTAAGCAGGCCGGGCATGCTGGAGATGTTGCTCCCTGGCCAGCCTGAGGCTGTGGCCCGCCT
CCGCGCCACCTTTGCTGGCCTCTACTCACTGGATGTGGGTGAAGAAGGGGACCAGGCCATCGCC
GAGGCCCTTGCTGCCCCTAGCCGGTTTGTGCTAAAGCCCCAGAGAGAGGGTGGAGGTAACAACC
TATATGGGGAGGAAATGGTACAGGCCCTGAAACAGCTGAAGGACAGTGAGGAGAGGGCCTCCTA
CATCCTCATGGAGAAGATCGAACCTGAGCCTTTTGAGAATTGCCTGCTACGGCCTGGCAGCCCT
GCCCGAGTGGTCCAGTGCATTTCAGAGCTGGGCATCTTTGGGGTCTATGTCAGGCAGGAAAAGA
CACTCGTGATGAACAAGCACGTGGGGCATCTACTTCGAACCAAAGCCATCGAGCATGCAGATGG
TGGTGTGGCAGCGGGAGTGGCAGTCCTGGACAACCCATACCCTGTGTGAGGGCACAACCAGGCC
ACGGGACCTTCTATCCTCTGTATTTGTCATTCCTCTCCTAGCCCTCCTGAGGGGTATCCTCCTA
AAGACCTCCAAAGTTTTTATGGAAGGGTAAATACTGGTACCTTCCCCCAGCTTTCCATCTGAGG
ACCAGAAAAGTTGTGTCTCCCTTAGATGAGATCTAGACGCCCCCAAATCCTTGAGATGTGGGTA
TAGCTCAGGGTAAGCTGCTCTGAGGTAAAGGTCCATGAACCCTGCCCCACTCCTGTCAGCCCCT
CATCAGCCTTTTCAGCAGGTTCCAGTGCCTGACTTGGGATAGGACTGAGTGGTAGGAGGAGGGG
GAGTGGAGGGGCATAGCCTTTCCCTAATTCTGCCTTAAATAAAACTGCATTGCTGATTCAAAAA
AAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000169	(Get FASTA)	NCBI Sequence Viewer
	NP_001309423	(Get FASTA)	NCBI Sequence Viewer
	NP_001309424	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB62390	(Get FASTA)	NCBI Sequence Viewer
	AAH07927	(Get FASTA)	NCBI Sequence Viewer
	AAL91591	(Get FASTA)	NCBI Sequence Viewer
	AAY57328	(Get FASTA)	NCBI Sequence Viewer
	ACF94475	(Get FASTA)	NCBI Sequence Viewer
	ACJ13672	(Get FASTA)	NCBI Sequence Viewer
	ALQ33563	(Get FASTA)	NCBI Sequence Viewer
	ALQ33564	(Get FASTA)	NCBI Sequence Viewer
	BAG35394	(Get FASTA)	NCBI Sequence Viewer
	BAG75452	(Get FASTA)	NCBI Sequence Viewer
	BAH11461	(Get FASTA)	NCBI Sequence Viewer
	BAH12750	(Get FASTA)	NCBI Sequence Viewer
	EAW76239	(Get FASTA)	NCBI Sequence Viewer
	EAW76240	(Get FASTA)	NCBI Sequence Viewer
	EAW76241	(Get FASTA)	NCBI Sequence Viewer
	P48637	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_000169 ⟸ NM_000178

- UniProtKB:

P48637 (UniProtKB/Swiss-Prot), V9HWJ1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSALLEQ
AYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVFLGLNRSDY
MFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKILSNNPSKGLALGI
AKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFEDISEKGSLDQDRRLFV
DGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEML
LPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALK
QLKDSEERASYILMEKIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHL
LRTKAIEHADGGVAAGVAVLDNPYPV

hide sequence

RefSeq Acc Id:

NP_001309423 ⟸ NM_001322494

- UniProtKB:

P48637 (UniProtKB/Swiss-Prot), V9HWJ1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSALLEQ
AYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVFLGLNRSDY
MFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKILSNNPSKGLALGI
AKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFEDISEKGSLDQDRRLFV
DGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEML
LPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALK
QLKDSEERASYILMEKIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHL
LRTKAIEHADGGVAAGVAVLDNPYPV

hide sequence

RefSeq Acc Id:

NP_001309424 ⟸ NM_001322495

- UniProtKB:

P48637 (UniProtKB/Swiss-Prot), V9HWJ1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSALLEQ
AYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVFLGLNRSDY
MFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKILSNNPSKGLALGI
AKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFEDISEKGSLDQDRRLFV
DGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEML
LPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALK
QLKDSEERASYILMEKIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHL
LRTKAIEHADGGVAAGVAVLDNPYPV

hide sequence

RefSeq Acc Id:

ENSP00000407517 ⟸ ENST00000451957

RefSeq Acc Id:

ENSP00000498303 ⟸ ENST00000651619

RefSeq Acc Id:

ENSP00000493631 ⟸ ENST00000642498

RefSeq Acc Id:

ENSP00000493524 ⟸ ENST00000642493

RefSeq Acc Id:

ENSP00000493927 ⟸ ENST00000642538

RefSeq Acc Id:

ENSP00000496125 ⟸ ENST00000643271

RefSeq Acc Id:

ENSP00000493903 ⟸ ENST00000643188

RefSeq Acc Id:

ENSP00000494819 ⟸ ENST00000643502

RefSeq Acc Id:

ENSP00000495572 ⟸ ENST00000643443

RefSeq Acc Id:

ENSP00000493500 ⟸ ENST00000644608

RefSeq Acc Id:

ENSP00000495750 ⟸ ENST00000644793

RefSeq Acc Id:

ENSP00000495829 ⟸ ENST00000645102

RefSeq Acc Id:

ENSP00000496142 ⟸ ENST00000645408

RefSeq Acc Id:

ENSP00000495404 ⟸ ENST00000645328

RefSeq Acc Id:

ENSP00000493744 ⟸ ENST00000646405

RefSeq Acc Id:

ENSP00000494333 ⟸ ENST00000646766

RefSeq Acc Id:

ENSP00000493763 ⟸ ENST00000646735

Protein Domains

GSH_synthase

Promoters

RGD ID:

6798824

Promoter ID:

HG_KWN:39161

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_020884, OTTHUMT00000078821, UC002XBH.1, UC010GEZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	33,007,021 - 33,007,521 (-)	MPROMDB

RGD ID:

6851950

Promoter ID:

EP73781

Type:

initiation region

Name:

HS_GSS

Description:

Glutathione synthetase.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	33,007,265 - 33,007,325	EPD

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GSS, 1-BP DEL, NT3/4G	deletion	Gluthathione synthetase deficiency [RCV000009052]	Chr20:20q11.2	pathogenic
NM_000178.4(GSS):c.73C>G (p.Arg25Gly)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000547918]	Chr20:34951780 [GRCh38] Chr20:33539583 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.491G>A (p.Arg164Gln)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000009051]	Chr20:34942488 [GRCh38] Chr20:33530291 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000009053]	Chr20:34935611 [GRCh38] Chr20:33523414 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000009054]	Chr20:34932121 [GRCh38] Chr20:33519924 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000009055]	Chr20:34942606 [GRCh38] Chr20:33530409 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000009056]\|not specified [RCV000601337]	Chr20:34932027 [GRCh38] Chr20:33519830 [GRCh37] Chr20:20q11.22	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	single nucleotide variant	Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [RCV000009057]\|Gluthathione synthetase deficiency [RCV000984989]	Chr20:34936976 [GRCh38] Chr20:33524779 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.2(GSS):c.130-2029G>T	single nucleotide variant	Lung cancer [RCV000101543]	Chr20:34948127 [GRCh38] Chr20:33535930 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]\|See cases [RCV000052766]	Chr20:34541747..39663219 [GRCh38] Chr20:33129551..38291861 [GRCh37] Chr20:32593212..37725275 [NCBI36] Chr20:20q11.22-12	pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]\|See cases [RCV000053002]	Chr20:34249453..43359749 [GRCh38] Chr20:32837259..41988389 [GRCh37] Chr20:32300920..41421803 [NCBI36] Chr20:20q11.22-13.11	pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	copy number gain	See cases [RCV000052999]	Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	copy number loss	See cases [RCV000135440]	Chr20:33432363..36821881 [GRCh38] Chr20:32020169..35450284 [GRCh37] Chr20:31483830..34883698 [NCBI36] Chr20:20q11.21-11.23	pathogenic
GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3	copy number gain	See cases [RCV000138924]	Chr20:34796981..34952986 [GRCh38] Chr20:33384784..33540789 [GRCh37] Chr20:32848445..33004450 [NCBI36] Chr20:20q11.22	likely benign
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	copy number gain	See cases [RCV000141833]	Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23	pathogenic
NM_000178.4(GSS):c.130G>T (p.Val44Leu)	single nucleotide variant	not provided [RCV000756217]	Chr20:34946098 [GRCh38] Chr20:33533901 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.596A>G (p.Tyr199Cys)	single nucleotide variant	not provided [RCV000756219]	Chr20:34941725 [GRCh38] Chr20:33529528 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1388C>T (p.Ala463Val)	single nucleotide variant	not provided [RCV000224278]	Chr20:34928865 [GRCh38] Chr20:33516668 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.275+20T>G	single nucleotide variant	not provided [RCV000590365]\|not specified [RCV000253772]	Chr20:34945933 [GRCh38] Chr20:33533736 [GRCh37] Chr20:20q11.22	benign
NM_000178.4(GSS):c.275+20del	deletion	not specified [RCV000249218]	Chr20:34945933 [GRCh38] Chr20:33533736 [GRCh37] Chr20:20q11.22	benign
NM_000178.4(GSS):c.1260C>G (p.Val420=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000274182]	Chr20:34929442 [GRCh38] Chr20:33517245 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000319674]\|not provided [RCV000756218]	Chr20:34929449 [GRCh38] Chr20:33517252 [GRCh37] Chr20:20q11.22	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000178.4(GSS):c.768-3C>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV000320565]\|not specified [RCV000421573]	Chr20:34935645 [GRCh38] Chr20:33523448 [GRCh37] Chr20:20q11.22	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000178.4(GSS):c.-16G>A	single nucleotide variant	Gluthathione synthetase deficiency [RCV000391180]\|not specified [RCV000603494]	Chr20:34955734 [GRCh38] Chr20:33543537 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_000178.4(GSS):c.1203C>T (p.Ile401=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000355838]	Chr20:34929499 [GRCh38] Chr20:33517302 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-80G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV000356805]	Chr20:34955798 [GRCh38] Chr20:33543601 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-63G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV000311385]	Chr20:34955781 [GRCh38] Chr20:33543584 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_000178.4(GSS):c.*181C>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV000363016]	Chr20:34928647 [GRCh38] Chr20:33516450 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*69G>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV000313996]	Chr20:34928759 [GRCh38] Chr20:33516562 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_000178.4(GSS):c.*2G>A	single nucleotide variant	Gluthathione synthetase deficiency [RCV000368789]	Chr20:34928826 [GRCh38] Chr20:33516629 [GRCh37] Chr20:20q11.22	benign\|uncertain significance
NM_000178.4(GSS):c.834+4G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV000284320]\|not specified [RCV000432158]	Chr20:34935572 [GRCh38] Chr20:33523375 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_000178.4(GSS):c.957G>A (p.Met319Ile)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000378758]	Chr20:34932011 [GRCh38] Chr20:33519814 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.448G>A (p.Ala150Thr)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000384492]	Chr20:34942531 [GRCh38] Chr20:33530334 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1186A>G (p.Ile396Val)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000261146]	Chr20:34929516 [GRCh38] Chr20:33517319 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.4del (p.Ala2fs)	deletion	Gluthathione synthetase deficiency [RCV000345182]	Chr20:34951849 [GRCh38] Chr20:33539652 [GRCh37] Chr20:20q11.22	conflicting interpretations of pathogenicity\|uncertain significance
NM_000178.4(GSS):c.1158G>A (p.Leu386=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000316359]	Chr20:34929544 [GRCh38] Chr20:33517347 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*90A>G	single nucleotide variant	Gluthathione synthetase deficiency [RCV000403814]	Chr20:34928738 [GRCh38] Chr20:33516541 [GRCh37] Chr20:20q11.22	benign\|uncertain significance
NM_000178.4(GSS):c.-46A>G	single nucleotide variant	Gluthathione synthetase deficiency [RCV000402933]\|not specified [RCV000420233]	Chr20:34955764 [GRCh38] Chr20:33543567 [GRCh37] Chr20:20q11.22	likely benign\|uncertain significance
NM_000178.4(GSS):c.*391A>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV000404151]	Chr20:34928437 [GRCh38] Chr20:33516240 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-29T>A	single nucleotide variant	Gluthathione synthetase deficiency [RCV000350582]	Chr20:34955747 [GRCh38] Chr20:33543550 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-18A>G	single nucleotide variant	Gluthathione synthetase deficiency [RCV000296189]	Chr20:34955736 [GRCh38] Chr20:33543539 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*390G>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV000308298]	Chr20:34928438 [GRCh38] Chr20:33516241 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-28C>A	single nucleotide variant	not specified [RCV000427205]	Chr20:34955746 [GRCh38] Chr20:33543549 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.399C>T (p.Ser133=)	single nucleotide variant	not specified [RCV000442149]	Chr20:34942580 [GRCh38] Chr20:33530383 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1302-3T>C	single nucleotide variant	not specified [RCV000428154]	Chr20:34928954 [GRCh38] Chr20:33516757 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.981T>C (p.Ala327=)	single nucleotide variant	not specified [RCV000421478]	Chr20:34931987 [GRCh38] Chr20:33519790 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.468C>T (p.Ala156=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000877193]\|not specified [RCV000419354]	Chr20:34942511 [GRCh38] Chr20:33530314 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1159A>C (p.Lys387Gln)	single nucleotide variant	not provided [RCV000483675]	Chr20:34929543 [GRCh38] Chr20:33517346 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.911C>T (p.Thr304Ile)	single nucleotide variant	not specified [RCV000507898]	Chr20:34932057 [GRCh38] Chr20:33519860 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.3G>A (p.Met1Ile)	single nucleotide variant	not provided [RCV000493170]	Chr20:34951850 [GRCh38] Chr20:33539653 [GRCh37] Chr20:20q11.22	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_000178.4(GSS):c.816T>G (p.Pro272=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000874962]\|not specified [RCV000600178]	Chr20:34935594 [GRCh38] Chr20:33523397 [GRCh37] Chr20:20q11.22	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000178.4(GSS):c.246C>T (p.Asn82=)	single nucleotide variant	not provided [RCV000904081]\|not specified [RCV000607116]	Chr20:34945982 [GRCh38] Chr20:33533785 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1362C>T (p.Ile454=)	single nucleotide variant	not specified [RCV000615994]	Chr20:34928891 [GRCh38] Chr20:33516694 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1056C>T (p.Ala352=)	single nucleotide variant	not specified [RCV000607344]	Chr20:34931391 [GRCh38] Chr20:33519194 [GRCh37] Chr20:20q11.22	likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_000178.4(GSS):c.-9+5G>A	single nucleotide variant	Gluthathione synthetase deficiency [RCV000587316]	Chr20:34955722 [GRCh38] Chr20:33543525 [GRCh37] Chr20:20q11.22	pathogenic
NM_000178.4(GSS):c.462C>T (p.Gly154=)	single nucleotide variant	not specified [RCV000606086]	Chr20:34942517 [GRCh38] Chr20:33530320 [GRCh37] Chr20:20q11.22	likely benign
NC_000020.10:g.(?_31996293)_(33761838_?)del	deletion	Long QT syndrome [RCV000708204]	Chr20:31996293..33761838 [GRCh37] Chr20:20q11.21-11.22	uncertain significance
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000778631]	Chr20:34936776 [GRCh38] Chr20:33524579 [GRCh37] Chr20:20q11.22	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.22(chr20:33449560-33570007)x3	copy number gain	not provided [RCV000741182]	Chr20:33449560..33570007 [GRCh37] Chr20:20q11.22	benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_000178.4(GSS):c.973C>T (p.Pro325Ser)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000865382]	Chr20:34931995 [GRCh38] Chr20:33519798 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1029+4C>T	single nucleotide variant	not provided [RCV000827181]	Chr20:34931935 [GRCh38] Chr20:33519738 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000805849]	Chr20:34931393 [GRCh38] Chr20:33519196 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000809202]	Chr20:34937001 [GRCh38] Chr20:33524804 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*185C>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV001137369]	Chr20:34928643 [GRCh38] Chr20:33516446 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*183C>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV001137370]	Chr20:34928645 [GRCh38] Chr20:33516448 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.707G>A (p.Arg236Gln)	single nucleotide variant	Gluthathione synthetase deficiency [RCV000981770]	Chr20:34936823 [GRCh38] Chr20:33524626 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.1301+14G>C	single nucleotide variant	not provided [RCV000840734]	Chr20:34929387 [GRCh38] Chr20:33517190 [GRCh37] Chr20:20q11.22	likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	copy number gain	not provided [RCV000849735]	Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23	pathogenic
NM_000178.4(GSS):c.368_382del (p.Leu123_Tyr128delinsHis)	deletion	Gluthathione synthetase deficiency [RCV001226368]	Chr20:34942597..34942611 [GRCh38] Chr20:33530400..33530414 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*20G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV001139606]	Chr20:34928808 [GRCh38] Chr20:33516611 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*31C>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV001137372]	Chr20:34928797 [GRCh38] Chr20:33516600 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001140370]	Chr20:34929581 [GRCh38] Chr20:33517384 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.394C>T (p.Arg132Cys)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001207775]	Chr20:34942585 [GRCh38] Chr20:33530388 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.126G>A (p.Ser42=)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001220231]	Chr20:34951727 [GRCh38] Chr20:33539530 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.415G>A (p.Ala139Thr)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001246738]	Chr20:34942564 [GRCh38] Chr20:33530367 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.-45G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV001142230]	Chr20:34955763 [GRCh38] Chr20:33543566 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1030-1G>C	single nucleotide variant	Gluthathione synthetase deficiency [RCV001069940]	Chr20:34931418 [GRCh38] Chr20:33519221 [GRCh37] Chr20:20q11.22	likely pathogenic
NM_000178.4(GSS):c.*68G>T	single nucleotide variant	Gluthathione synthetase deficiency [RCV001137371]	Chr20:34928760 [GRCh38] Chr20:33516563 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001139607]	Chr20:34929576 [GRCh38] Chr20:33517379 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.14G>T (p.Trp5Leu)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001217289]	Chr20:34951839 [GRCh38] Chr20:33539642 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.*323G>A	single nucleotide variant	Gluthathione synthetase deficiency [RCV001137368]	Chr20:34928505 [GRCh38] Chr20:33516308 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001042779]	Chr20:34936821 [GRCh38] Chr20:33524624 [GRCh37] Chr20:20q11.22	pathogenic\|likely pathogenic
NM_000178.4(GSS):c.602C>T (p.Ser201Leu)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001142229]	Chr20:34941719 [GRCh38] Chr20:33529522 [GRCh37] Chr20:20q11.22	uncertain significance
NM_000178.4(GSS):c.988C>T (p.Arg330Cys)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001140371]	Chr20:34931980 [GRCh38] Chr20:33519783 [GRCh37] Chr20:20q11.22	likely benign
NM_000178.4(GSS):c.787G>A (p.Val263Met)	single nucleotide variant	Gluthathione synthetase deficiency [RCV001140372]	Chr20:34935623 [GRCh38] Chr20:33523426 [GRCh37] Chr20:20q11.22	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4624	AgrOrtholog
COSMIC	GSS	COSMIC
Ensembl Genes	ENSG00000100983	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000407517	UniProtKB/Swiss-Prot
	ENSP00000493500	UniProtKB/TrEMBL
	ENSP00000493524	UniProtKB/TrEMBL
	ENSP00000493631	UniProtKB/TrEMBL
	ENSP00000493744	UniProtKB/TrEMBL
	ENSP00000493763	UniProtKB/Swiss-Prot
	ENSP00000493903	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000493927	UniProtKB/TrEMBL
	ENSP00000494333	UniProtKB/TrEMBL
	ENSP00000494819	UniProtKB/TrEMBL
	ENSP00000495404	UniProtKB/TrEMBL
	ENSP00000495572	UniProtKB/TrEMBL
	ENSP00000495750	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000495829	UniProtKB/TrEMBL
	ENSP00000496125	UniProtKB/TrEMBL
	ENSP00000496142	UniProtKB/TrEMBL
	ENSP00000498303	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000451957	UniProtKB/Swiss-Prot
	ENST00000642493	UniProtKB/TrEMBL
	ENST00000642498	UniProtKB/TrEMBL
	ENST00000642538	UniProtKB/TrEMBL
	ENST00000643188	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000643271	UniProtKB/TrEMBL
	ENST00000643443	UniProtKB/TrEMBL
	ENST00000643502	UniProtKB/TrEMBL
	ENST00000644608	UniProtKB/TrEMBL
	ENST00000644793	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000645102	UniProtKB/TrEMBL
	ENST00000645328	UniProtKB/TrEMBL
	ENST00000645408	UniProtKB/TrEMBL
	ENST00000646405	UniProtKB/TrEMBL
	ENST00000646735	UniProtKB/Swiss-Prot
	ENST00000646766	UniProtKB/TrEMBL
	ENST00000651619	ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.1080.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.1490.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.1490.80	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.40.50.1760	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000100983	GTEx
HGNC ID	HGNC:4624	ENTREZGENE
Human Proteome Map	GSS	Human Proteome Map
InterPro	Glutathione_synthase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glutathione_synthase_a-hlx	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glutathione_synthase_C_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glutathione_synthase_N_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GSH-S_sub-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GSH_synth_subst-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PreATP-grasp_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2937	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	2937	ENTREZGENE
OMIM	231900	OMIM
	266130	OMIM
	601002	OMIM
PANTHER	PTHR11130	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GSH_synth_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GSH_synthase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	GSS	RGD, PharmGKB
PIRSF	GSHase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52440	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	glut_syn_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene	Hs.82327	ENTREZGENE
UniProt	A0A0S2Z4J7_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y2F2_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y2X9_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y430_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y446_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4V9_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y5T7_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6Q7_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6Y6_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y790_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y7I7_HUMAN	UniProtKB/TrEMBL
	A0A2R8YF34_HUMAN	UniProtKB/TrEMBL
	GSHB_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	V9HWJ1	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	B2R697	UniProtKB/Swiss-Prot
	B6F210	UniProtKB/Swiss-Prot
	E1P5P9	UniProtKB/Swiss-Prot
	Q4TTD9	UniProtKB/Swiss-Prot

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)