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Gene: FXYD2 (FXYD domain containing ion transport regulator 2) Homo sapiens

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Symbol:

FXYD2

Name:

FXYD domain containing ion transport regulator 2

RGD ID:

1342669

HGNC Page

HGNC:4026

Description:

Predicted to enable ATPase activator activity; protein-macromolecule adaptor activity; and sodium channel regulator activity. Predicted to be involved in intracellular monoatomic cation homeostasis; monoatomic cation transmembrane transport; and positive regulation of sodium ion export across plasma membrane. Predicted to act upstream of or within regulation of sodium ion transmembrane transporter activity. Located in extracellular exosome. Part of sodium:potassium-exchanging ATPase complex. Implicated in renal hypomagnesemia 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATP1G1; ATPase, Na+/K+ transporting, gamma 1 polypeptide; FXYD domain-containing ion transport regulator 2; HOMG2; MGC12372; Na(+)/K(+) ATPase subunit gamma; sodium pump gamma chain; Sodium-potassium-ATPase, gamma polypeptide; sodium/potassium-transporting ATPase subunit gamma

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	11	117,820,057 - 117,828,089 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	117,800,844 - 117,828,698 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	117,690,772 - 117,698,804 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	117,196,000 - 117,204,017 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	117,195,999 - 117,204,017	NCBI
Celera	11	114,848,637 - 114,856,650 (-)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	113,624,622 - 113,632,639 (-)	NCBI		HuRef
CHM1_1	11	117,576,366 - 117,584,383 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	117,836,469 - 117,844,497 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	renal hypomagnesemia 2		IAGP		1598986	DNA:missense mutation:cds:p.G41R (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	CD3epsilon deficiency		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: CD3epsilon deficiency	ClinVar	PMID:28492532
FXYD2	Human	chromosome 11 partial duplication syndrome		IAGP	RGD:38471464	8554872	ClinVar Annotator: match by term: Distal trisomy 11q	ClinVar	PMID:25741868
FXYD2	Human	Dwarfism		IAGP	RGD:21404992	8554872	ClinVar Annotator: match by term: Short stature	ClinVar	PMID:32581362
FXYD2	Human	genetic disease		IAGP	RGD:151846681	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17576681\|PMID:25741868\|PMID:28492532\|PMID:9536098
FXYD2	Human	genetic disease		IAGP	RGD:15188490\|RGD:15197234	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	immunodeficiency 17		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient	ClinVar	PMID:28492532
FXYD2	Human	immunodeficiency 18		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: Immunodeficiency 18	ClinVar	PMID:28492532
FXYD2	Human	immunodeficiency 19		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: Immunodeficiency 19	ClinVar	PMID:28492532
FXYD2	Human	inflammatory bowel disease 28		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: Inflammatory bowel disease 28	ClinVar	PMID:28492532
FXYD2	Human	intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
FXYD2	Human	isolated microphthalmia 5		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: Isolated microphthalmia 5	ClinVar	PMID:28492532
FXYD2	Human	nephronophthisis 15		IAGP	RGD:156439717	8554872	ClinVar Annotator: match by term: Nephronophthisis 15	ClinVar	PMID:22863007\|PMID:28125082\|PMID:28492532\|PMID:32367404\|PMID:34132027\|PMID:34499853
FXYD2	Human	RASopathy		IAGP	RGD:156439265	8554872	ClinVar Annotator: match by term: RASopathy	ClinVar	PMID:28492532
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:405212731	8554872	ClinVar Annotator: match by term: Renal hypomagnesemia 2	ClinVar	PMID:16199547\|PMID:25741868\|PMID:28492532
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:11605493\|RGD:11621612\|RGD:11622207\|RGD:11666895\|RGD:597675042\|RGD:597675054\|RGD:597675067\|RGD:597675079\|RGD:597675822	8554872	ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant \| ClinVar Annotator: match by term: Renal more ...	ClinVar	PMID:25741868
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:151753239\|RGD:151846681	8554872	ClinVar Annotator: match by term: Renal hypomagnesemia 2	ClinVar	PMID:17576681\|PMID:25741868\|PMID:28492532\|PMID:9536098
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:11604583\|RGD:11607549\|RGD:11611437\|RGD:11617498\|RGD:11625069\|RGD:15101653\|RGD:15137598\|RGD:15168273\|RGD:15190997\|RGD:15197234\|RGD:156050215\|RGD:156328851\|RGD:156438720\|RGD:28906390	8554872	ClinVar Annotator: match by term: Renal hypomagnesemia 2	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:11601211\|RGD:11608149\|RGD:11609785\|RGD:11610207\|RGD:11611042\|RGD:11616254\|RGD:11644963\|RGD:153301246\|RGD:28904197\|RGD:28909997	8554872	ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant \| ClinVar Annotator: match by term: Renal more ...	ClinVar
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:152158980\|RGD:156109825	8554872	ClinVar Annotator: match by term: FXYD2-related condition	ClinVar	PMID:28492532
FXYD2	Human	renal hypomagnesemia 2		IAGP	RGD:8560048	8554872	ClinVar Annotator: match by term: Renal hypomagnesemia 2	ClinVar	PMID:11062458\|PMID:11929868\|PMID:12763860\|PMID:25765846\|PMID:28492532\|PMID:3298795

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	Experimental Liver Cirrhosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25380136
FXYD2	Human	hypertension		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:22228705
FXYD2	Human	primary hypomagnesemia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:11062458
FXYD2	Human	renal hypomagnesemia 2		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	renal hypomagnesemia 2		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)
FXYD2	Human	1,1-dichloroethene	decreases expression	ISO	RGD:736423	6480464	vinylidene chloride results in decreased expression of FXYD2 mRNA	CTD	PMID:26682919
FXYD2	Human	1-naphthyl isothiocyanate	increases expression	ISO	RGD:2173	6480464	1-Naphthylisothiocyanate results in increased expression of FXYD2 mRNA	CTD	PMID:25380136
FXYD2	Human	2,2,2-tetramine	increases expression	ISO	RGD:2173	6480464	Trientine results in increased expression of FXYD2 protein	CTD	PMID:19634143
FXYD2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:736423	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to FXYD2 promoter]	CTD	PMID:19654925
FXYD2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:2173	6480464	Tetrachlorodibenzodioxin affects the expression of FXYD2 mRNA	CTD	PMID:32109520
FXYD2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:736423	6480464	Tetrachlorodibenzodioxin affects the expression of FXYD2 mRNA	CTD	PMID:21570461
FXYD2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of FXYD2 mRNA	CTD	PMID:20106945\|PMID:21632981
FXYD2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:2173	6480464	Tetrachlorodibenzodioxin results in increased expression of FXYD2 mRNA	CTD	PMID:21215274\|PMID:34747641
FXYD2	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	RGD:736423	6480464	2,2',4,4',5-brominated diphenyl ether affects the expression of FXYD2 mRNA	CTD	PMID:38648751
FXYD2	Human	2-amino-2-deoxy-D-glucopyranose	increases expression	ISO	RGD:2173	6480464	Glucosamine results in increased expression of FXYD2 mRNA	CTD	PMID:17109745
FXYD2	Human	2-deoxy-D-glucose	multiple interactions	EXP		6480464	Calcium inhibits the reaction [FXYD2 protein results in increased transport of Deoxyglucose]	CTD	PMID:11533133
FXYD2	Human	2-deoxy-D-glucose	increases transport	EXP		6480464	FXYD2 protein results in increased transport of Deoxyglucose	CTD	PMID:11533133
FXYD2	Human	3,3',5-triiodo-L-thyronine	increases expression	ISO	RGD:2173	6480464	Triiodothyronine results in increased expression of FXYD2 mRNA	CTD	PMID:15953391
FXYD2	Human	3H-1,2-dithiole-3-thione	decreases expression	ISO	RGD:2173	6480464	1,2-dithiol-3-thione results in decreased expression of FXYD2 mRNA	CTD	PMID:19162173
FXYD2	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	RGD:2173	6480464	4,4'-diaminodiphenylmethane results in increased expression of FXYD2 mRNA	CTD	PMID:25380136
FXYD2	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	RGD:736423	6480464	Fenretinide results in decreased expression of FXYD2 mRNA	CTD	PMID:28973697
FXYD2	Human	4-hydroxyphenyl retinamide	increases expression	ISO	RGD:736423	6480464	Fenretinide results in increased expression of FXYD2 mRNA	CTD	PMID:28973697
FXYD2	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:2173	6480464	Propylthiouracil results in increased expression of FXYD2 mRNA	CTD	PMID:30047161
FXYD2	Human	acetamide	increases expression	ISO	RGD:2173	6480464	acetamide results in increased expression of FXYD2 mRNA	CTD	PMID:31881176
FXYD2	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of FXYD2 protein	CTD	PMID:20106945
FXYD2	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of FXYD2 mRNA	CTD	PMID:21632981\|PMID:21641981
FXYD2	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of FXYD2 polyA tail	CTD	PMID:30157460
FXYD2	Human	aldehydo-D-glucosamine	increases expression	ISO	RGD:2173	6480464	Glucosamine results in increased expression of FXYD2 mRNA	CTD	PMID:17109745
FXYD2	Human	alpha-Zearalanol	multiple interactions	ISO	RGD:2173	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of FXYD2 mRNA	CTD	PMID:35163327
FXYD2	Human	amitrole	increases expression	ISO	RGD:2173	6480464	Amitrole results in increased expression of FXYD2 mRNA	CTD	PMID:30047161
FXYD2	Human	ammonium chloride	affects expression	ISO	RGD:2173	6480464	Ammonium Chloride affects the expression of FXYD2 mRNA	CTD	PMID:16483693
FXYD2	Human	amphetamine	increases expression	ISO	RGD:2173	6480464	Amphetamine results in increased expression of FXYD2 mRNA	CTD	PMID:30779732
FXYD2	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of FXYD2 mRNA	CTD	PMID:33212167
FXYD2	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of FXYD2 mRNA	CTD	PMID:18414638
FXYD2	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of FXYD2 mRNA	CTD	PMID:18414638
FXYD2	Human	barium(0)	decreases activity	EXP		6480464	Barium results in decreased activity of FXYD2 protein	CTD	PMID:11533133
FXYD2	Human	benzene	decreases expression	EXP		6480464	Benzene results in decreased expression of FXYD2 mRNA	CTD	PMID:33064461
FXYD2	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:736423	6480464	Benzo(a)pyrene promotes the reaction [AHR protein binds to FXYD2 promoter]	CTD	PMID:19654925
FXYD2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of FXYD2 promoter	CTD	PMID:27901495
FXYD2	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of FXYD2 mRNA	CTD	PMID:20106945\|PMID:21632981\|PMID:21871943\|PMID:22316170
FXYD2	Human	Benzo[k]fluoranthene	increases expression	ISO	RGD:736423	6480464	benzo(k)fluoranthene results in increased expression of FXYD2 mRNA	CTD	PMID:26377693
FXYD2	Human	beta-D-glucosamine	increases expression	ISO	RGD:2173	6480464	Glucosamine results in increased expression of FXYD2 mRNA	CTD	PMID:17109745
FXYD2	Human	bisphenol A	decreases expression	ISO	RGD:2173	6480464	bisphenol A results in decreased expression of FXYD2 mRNA	CTD	PMID:25181051
FXYD2	Human	bisphenol A	increases expression	ISO	RGD:736423	6480464	bisphenol A results in increased expression of FXYD2 mRNA	CTD	PMID:34585602
FXYD2	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of FXYD2 mRNA	CTD	PMID:30903817
FXYD2	Human	buta-1,3-diene	decreases expression	ISO	RGD:736423	6480464	1,3-butadiene results in decreased expression of FXYD2 mRNA	CTD	PMID:29038090
FXYD2	Human	calcium atom	multiple interactions	EXP		6480464	Calcium inhibits the reaction [FXYD2 protein results in increased transport of Deoxyglucose]; Calcium inhibits the more ...	CTD	PMID:11533133
FXYD2	Human	calcium atom	decreases activity	EXP		6480464	Calcium results in decreased activity of FXYD2 protein	CTD	PMID:11533133
FXYD2	Human	calcium(0)	multiple interactions	EXP		6480464	Calcium inhibits the reaction [FXYD2 protein results in increased transport of Deoxyglucose]; Calcium inhibits the more ...	CTD	PMID:11533133
FXYD2	Human	calcium(0)	decreases activity	EXP		6480464	Calcium results in decreased activity of FXYD2 protein	CTD	PMID:11533133
FXYD2	Human	carbon nanotube	decreases expression	ISO	RGD:736423	6480464	Nanotubes, Carbon analog results in decreased expression of FXYD2 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25554681
FXYD2	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of FXYD2 mRNA	CTD	PMID:27392435
FXYD2	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of FXYD2 mRNA	CTD	PMID:27392435
FXYD2	Human	clofibrate	multiple interactions	ISO	RGD:736423	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of FXYD2 mRNA; PPARA affects the reaction [[Clofibrate more ...	CTD	PMID:17585979
FXYD2	Human	copper atom	decreases expression	ISO	RGD:2173	6480464	Copper results in decreased expression of FXYD2 mRNA	CTD	PMID:30556269
FXYD2	Human	copper(0)	decreases expression	ISO	RGD:2173	6480464	Copper results in decreased expression of FXYD2 mRNA	CTD	PMID:30556269
FXYD2	Human	copper(II) chloride	affects expression	EXP		6480464	cupric chloride affects the expression of FXYD2 mRNA	CTD	PMID:17211630
FXYD2	Human	Cuprizon	decreases expression	ISO	RGD:2173	6480464	Cuprizone results in decreased expression of FXYD2 mRNA	CTD	PMID:27523638
FXYD2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of FXYD2 mRNA	CTD	PMID:24907557
FXYD2	Human	decabromodiphenyl ether	decreases expression	ISO	RGD:2173	6480464	decabromobiphenyl ether results in decreased expression of FXYD2 mRNA	CTD	PMID:23914054
FXYD2	Human	Deoxycorticosterone acetate	multiple interactions	ISO	RGD:2173	6480464	[Desoxycorticosterone Acetate co-treated with Sodium Chloride, Dietary co-treated with Potassium Chloride] results in decreased expression more ...	CTD	PMID:22228705
FXYD2	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of FXYD2 mRNA	CTD	PMID:28302478
FXYD2	Human	diquat	decreases expression	ISO	RGD:736423	6480464	Diquat results in decreased expression of FXYD2 protein	CTD	PMID:36851058
FXYD2	Human	diuron	decreases expression	ISO	RGD:2173	6480464	Diuron results in decreased expression of FXYD2 mRNA	CTD	PMID:25152437
FXYD2	Human	ethylparaben	decreases expression	EXP		6480464	ethyl-p-hydroxybenzoate results in decreased expression of FXYD2 mRNA	CTD	PMID:37690743
FXYD2	Human	flavonoids	increases expression	ISO	RGD:2173	6480464	Flavonoids results in increased expression of FXYD2 mRNA	CTD	PMID:18035473
FXYD2	Human	furan	increases expression	ISO	RGD:2173	6480464	furan results in increased expression of FXYD2 mRNA	CTD	PMID:26194646
FXYD2	Human	glycine betaine	decreases expression	ISO	RGD:2173	6480464	Betaine results in decreased expression of FXYD2 mRNA; Betaine results in decreased expression of FXYD2 more ...	CTD	PMID:26391144
FXYD2	Human	indole-3-methanol	affects expression	ISO	RGD:2173	6480464	indole-3-carbinol affects the expression of FXYD2 mRNA	CTD	PMID:21396975
FXYD2	Human	inulin	multiple interactions	EXP		6480464	Calcium inhibits the reaction [FXYD2 protein results in increased transport of Inulin]	CTD	PMID:11533133
FXYD2	Human	inulin	increases transport	EXP		6480464	FXYD2 protein results in increased transport of Inulin	CTD	PMID:11533133
FXYD2	Human	leflunomide	decreases expression	EXP		6480464	leflunomide results in decreased expression of FXYD2 mRNA	CTD	PMID:28988120
FXYD2	Human	manganese atom	increases expression	EXP		6480464	Manganese results in increased expression of FXYD2 mRNA	CTD	PMID:17175027
FXYD2	Human	manganese(0)	increases expression	EXP		6480464	Manganese results in increased expression of FXYD2 mRNA	CTD	PMID:17175027
FXYD2	Human	manganese(II) chloride	increases expression	EXP		6480464	manganese chloride results in increased expression of FXYD2 mRNA	CTD	PMID:17175027
FXYD2	Human	methimazole	increases expression	ISO	RGD:2173	6480464	Methimazole results in increased expression of FXYD2 mRNA	CTD	PMID:30047161
FXYD2	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of FXYD2 mRNA	CTD	PMID:23649840
FXYD2	Human	N-nitrosodimethylamine	increases expression	ISO	RGD:2173	6480464	Dimethylnitrosamine results in increased expression of FXYD2 mRNA	CTD	PMID:25380136
FXYD2	Human	okadaic acid	decreases expression	EXP		6480464	Okadaic Acid results in decreased expression of FXYD2 mRNA	CTD	PMID:38832940
FXYD2	Human	paracetamol	multiple interactions	ISO	RGD:736423	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of FXYD2 mRNA; PPARA affects the reaction [[Clofibrate more ...	CTD	PMID:17585979
FXYD2	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of FXYD2 mRNA	CTD	PMID:22230336
FXYD2	Human	perfluorooctanoic acid	multiple interactions	ISO	RGD:2173	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of FXYD2 mRNA	CTD	PMID:35163327
FXYD2	Human	potassium chloride	multiple interactions	ISO	RGD:2173	6480464	[Desoxycorticosterone Acetate co-treated with Sodium Chloride, Dietary co-treated with Potassium Chloride] results in decreased expression more ...	CTD	PMID:22228705
FXYD2	Human	potassium dichromate	increases expression	ISO	RGD:736423	6480464	Potassium Dichromate results in increased expression of FXYD2 mRNA	CTD	PMID:23608068
FXYD2	Human	propanal	decreases expression	EXP		6480464	propionaldehyde results in decreased expression of FXYD2 mRNA	CTD	PMID:26079696
FXYD2	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of FXYD2 mRNA	CTD	PMID:21632981
FXYD2	Human	resveratrol	multiple interactions	ISO	RGD:2173	6480464	[resveratrol co-treated with Streptozocin] results in increased expression of FXYD2 mRNA	CTD	PMID:25905778
FXYD2	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of FXYD2 mRNA	CTD	PMID:23557933
FXYD2	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of FXYD2 mRNA	CTD	PMID:25895662
FXYD2	Human	silicon dioxide	increases expression	ISO	RGD:2173	6480464	Silicon Dioxide results in increased expression of FXYD2 mRNA	CTD	PMID:34779285
FXYD2	Human	sodium arsenite	affects methylation	EXP		6480464	sodium arsenite affects the methylation of FXYD2 gene	CTD	PMID:28589171
FXYD2	Human	sodium arsenite	decreases expression	ISO	RGD:736423	6480464	sodium arsenite results in decreased expression of FXYD2 mRNA	CTD	PMID:37682722
FXYD2	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of FXYD2 mRNA	CTD	PMID:29301061
FXYD2	Human	Soman	increases expression	ISO	RGD:2173	6480464	Soman results in increased expression of FXYD2 mRNA	CTD	PMID:19281266
FXYD2	Human	spermidine	increases transport	EXP		6480464	FXYD2 protein results in increased transport of Spermidine	CTD	PMID:11533133
FXYD2	Human	streptozocin	multiple interactions	ISO	RGD:2173	6480464	[resveratrol co-treated with Streptozocin] results in increased expression of FXYD2 mRNA	CTD	PMID:25905778
FXYD2	Human	succimer	multiple interactions	ISO	RGD:736423	6480464	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of FXYD2 mRNA	CTD	PMID:21641980
FXYD2	Human	thioacetamide	decreases expression	ISO	RGD:2173	6480464	Thioacetamide results in decreased expression of FXYD2 mRNA	CTD	PMID:23411599
FXYD2	Human	trichloroethene	increases expression	ISO	RGD:2173	6480464	Trichloroethylene results in increased expression of FXYD2 mRNA	CTD	PMID:33387578
FXYD2	Human	trimellitic anhydride	decreases expression	ISO	RGD:736423	6480464	trimellitic anhydride results in decreased expression of FXYD2 mRNA	CTD	PMID:19042947
FXYD2	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of FXYD2 gene	CTD	PMID:29154799
FXYD2	Human	zinc atom	decreases expression	ISO	RGD:2173	6480464	Zinc deficiency results in decreased expression of FXYD2 mRNA	CTD	PMID:11717422
FXYD2	Human	zinc(0)	decreases expression	ISO	RGD:2173	6480464	Zinc deficiency results in decreased expression of FXYD2 mRNA	CTD	PMID:11717422
FXYD2	Human	zoledronic acid	decreases expression	EXP		6480464	zoledronic acid results in decreased expression of FXYD2 mRNA	CTD	PMID:24714768

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)
FXYD2	Human	cellular hyperosmotic salinity response		ISO	RGD:2173	9068941		RGD	PMID:15280368\|REF_RGD_ID:1598989
FXYD2	Human	cellular hyperosmotic salinity response	involved_in	IEA	UniProtKB:Q04679\|ensembl:ENSRNOP00000109670	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	establishment or maintenance of transmembrane electrochemical gradient	involved_in	NAS		150520179	PMID:24688018	ComplexPortal	PMID:24688018
FXYD2	Human	inorganic cation transmembrane transport		ISO	RGD:2173	9068941		RGD	PMID:12626497\|REF_RGD_ID:1598991
FXYD2	Human	inorganic cation transmembrane transport	involved_in	IEA	UniProtKB:Q04679\|ensembl:ENSRNOP00000109670	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	intracellular potassium ion homeostasis	involved_in	ISO	ComplexPortal:CPX-57	150520179		ComplexPortal	GO_REF:0000114
FXYD2	Human	intracellular sodium ion homeostasis	involved_in	ISO	ComplexPortal:CPX-57	150520179		ComplexPortal	GO_REF:0000114
FXYD2	Human	monoatomic ion transport	involved_in	IEA	UniProtKB-KW:KW-0406	150520179		UniProt	GO_REF:0000043
FXYD2	Human	monoatomic ion transport	involved_in	IEA	InterPro:IPR047282	150520179		InterPro	GO_REF:0000002
FXYD2	Human	negative regulation of cell population proliferation		ISO	RGD:2173	9068941		RGD	PMID:15280368\|REF_RGD_ID:1598989
FXYD2	Human	negative regulation of cell population proliferation	involved_in	IEA	UniProtKB:Q04679\|ensembl:ENSRNOP00000109670	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	negative regulation of P-type sodium:potassium-exchanging transporter activity		ISO	RGD:2173	9068941		RGD	PMID:15280368\|REF_RGD_ID:1598989
FXYD2	Human	positive regulation of sodium ion export across plasma membrane	involved_in	IBA	MGI:1889273\|PANTHER:PTN000364858\|UniProtKB:Q3SZX0	150520179		GO_Central	GO_REF:0000033
FXYD2	Human	potassium ion import across plasma membrane	involved_in	ISS	UniProtKB:Q58K79	150520179		BHF-UCL	GO_REF:0000024
FXYD2	Human	potassium ion import across plasma membrane	involved_in	ISO	ComplexPortal:CPX-57	150520179		ComplexPortal	GO_REF:0000114
FXYD2	Human	potassium ion transport	involved_in	IEA	UniProtKB-KW:KW-0633\|UniProtKB-KW:KW-0740	150520179		UniProt	GO_REF:0000043
FXYD2	Human	proton transmembrane transport	involved_in	NAS		150520179	PMID:24688018	ComplexPortal	PMID:24688018
FXYD2	Human	regulation of monoatomic ion transport	involved_in	IEA	InterPro:IPR000272	150520179		InterPro	GO_REF:0000002
FXYD2	Human	regulation of P-type sodium:potassium-exchanging transporter activity		ISO	RGD:2173	9068941		RGD	PMID:11756431\|REF_RGD_ID:625472
FXYD2	Human	regulation of sodium ion transmembrane transporter activity	acts_upstream_of_or_within	ISO	MGI:3586329	9068941	PMID:15755730	MGI	PMID:15755730
FXYD2	Human	sodium ion export across plasma membrane	involved_in	ISS	UniProtKB:Q58K79	150520179		BHF-UCL	GO_REF:0000024
FXYD2	Human	sodium ion export across plasma membrane	involved_in	ISO	ComplexPortal:CPX-57	150520179		ComplexPortal	GO_REF:0000114
FXYD2	Human	sodium ion transport	involved_in	IEA	UniProtKB-KW:KW-0739\|UniProtKB-KW:KW-0740	150520179		UniProt	GO_REF:0000043
FXYD2	Human	transmembrane transport	involved_in	ISS	UniProtKB:Q58K79	150520179		BHF-UCL	GO_REF:0000024

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)
FXYD2	Human	basolateral plasma membrane		ISO	RGD:2173	9068941		RGD	PMID:16757733\|REF_RGD_ID:1598987
FXYD2	Human	basolateral plasma membrane	located_in	IEA	UniProtKB:Q04679\|ensembl:ENSRNOP00000109670	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	extracellular exosome	located_in	HDA		150520179	PMID:19056867	UniProt	PMID:19056867
FXYD2	Human	membrane	located_in	IEA	InterPro:IPR000272	150520179		InterPro	GO_REF:0000002
FXYD2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
FXYD2	Human	membrane	located_in	IEA	UniProtKB:Q04646\|ensembl:ENSMUSP00000035429	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
FXYD2	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-936897\|Reactome:R-HSA-9684068
FXYD2	Human	sodium:potassium-exchanging ATPase complex	part_of	IPI		150520179	PMID:35803952	ComplexPortal	PMID:35803952
FXYD2	Human	sodium:potassium-exchanging ATPase complex	part_of	IEA	UniProtKB:Q04679\|ensembl:ENSRNOP00000109670	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	sodium:potassium-exchanging ATPase complex	part_of	TAS		150520179	PMID:9048881	PINC	PMID:9048881
FXYD2	Human	sodium:potassium-exchanging ATPase complex	part_of	ISS	UniProtKB:Q58K79	150520179		BHF-UCL	GO_REF:0000024
FXYD2	Human	sodium:potassium-exchanging ATPase complex		ISO	RGD:2173	9068941		RGD	PMID:12626497\|REF_RGD_ID:1598991

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)
FXYD2	Human	ATPase activator activity	enables	ISS	UniProtKB:Q58K79	150520179		ARUK-UCL	GO_REF:0000024
FXYD2	Human	ion channel regulator activity	enables	IEA	InterPro:IPR000272	150520179		InterPro	GO_REF:0000002
FXYD2	Human	protein binding		ISO	RGD:70998	9068941		RGD	PMID:16373350\|REF_RGD_ID:1598988
FXYD2	Human	protein binding	enables	IPI	UniProtKB:O43765\|UniProtKB:Q9Y282	150520179	PMID:32296183	IntAct	PMID:32296183
FXYD2	Human	protein binding		ISO	RGD:2167	9068941		RGD	PMID:16373350\|REF_RGD_ID:1598988
FXYD2	Human	protein-macromolecule adaptor activity	enables	ISS	UniProtKB:Q58K79	150520179		ARUK-UCL	GO_REF:0000024
FXYD2	Human	sodium channel regulator activity	enables	IEA	UniProtKB:Q04646\|ensembl:ENSMUSP00000035429	150520179		Ensembl	GO_REF:0000107
FXYD2	Human	sodium channel regulator activity	enables	IBA	MGI:1195260\|MGI:1201785\|MGI:1889273\|PANTHER:PTN000364858\|RGD:70998\|UniProtKB:P56513\|UniProtKB:Q96DB9	150520179		GO_Central	GO_REF:0000033

Imported Annotations - SMPDB

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	acebutolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00296
FXYD2	Human	adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00296
FXYD2	Human	alfentanil pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00413
FXYD2	Human	amiloride pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00133
FXYD2	Human	amiodarone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00665
FXYD2	Human	amlodipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00376
FXYD2	Human	atenolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00298
FXYD2	Human	bendroflumethiazide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00090
FXYD2	Human	betaxolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00299
FXYD2	Human	bisoprolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00300
FXYD2	Human	bumetanide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00088
FXYD2	Human	bupivacaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00393
FXYD2	Human	bupranolol drug pathway		EXP		10402751		SMPDB	SMP:00670
FXYD2	Human	bupranolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00670
FXYD2	Human	buprenorphine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00684
FXYD2	Human	carvedilol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00367
FXYD2	Human	chloroprocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00394
FXYD2	Human	chlorothiazide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00078
FXYD2	Human	chlorthalidone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00122
FXYD2	Human	citalopram pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00424
FXYD2	Human	cocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00395
FXYD2	Human	codeine and morphine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00405
FXYD2	Human	codeine and morphine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00406
FXYD2	Human	cystinuria pathway		EXP		10402751		SMPDB	SMP:00723
FXYD2	Human	desipramine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00423
FXYD2	Human	diltiazem pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00359
FXYD2	Human	diphenoxylate pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00675
FXYD2	Human	disopyramide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00325
FXYD2	Human	dobutamine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00662
FXYD2	Human	eplerenone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00135
FXYD2	Human	escitalopram pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00425
FXYD2	Human	esmolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00301
FXYD2	Human	etacrynic acid pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00097
FXYD2	Human	ethylmorphine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00681
FXYD2	Human	fentanyl pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00415
FXYD2	Human	flecainde pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00331
FXYD2	Human	fluoxetine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00426
FXYD2	Human	fosphenytoin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00326
FXYD2	Human	furosemide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00115
FXYD2	Human	Hartnup disease pathway		EXP		10402751		SMPDB	SMP:00189
FXYD2	Human	heroin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00407
FXYD2	Human	hydrochlorothiazide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00100
FXYD2	Human	hydrocodone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00411
FXYD2	Human	hydroflumethiazide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00108
FXYD2	Human	hydromorphone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00410
FXYD2	Human	ibutilide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00332
FXYD2	Human	iminoglycinuria pathway		EXP		10402751		SMPDB	SMP:00193
FXYD2	Human	imipramine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00422
FXYD2	Human	isoprenaline pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00663
FXYD2	Human	isradipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00378
FXYD2	Human	lactose degradation pathway		EXP		10402751		SMPDB	SMP:00457
FXYD2	Human	levacetylmethadol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00677
FXYD2	Human	levobunolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00666
FXYD2	Human	levobupivacaine phgarmacodynamics pathway		EXP		10402751		SMPDB	SMP:00397
FXYD2	Human	levorphanol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00673
FXYD2	Human	lidocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00398
FXYD2	Human	lidocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00328
FXYD2	Human	lysinuric protein intolerance pathway		EXP		10402751		SMPDB	SMP:00585
FXYD2	Human	lysinuric protein intolerance pathway		EXP		10402751		SMPDB	SMP:00197
FXYD2	Human	mepivacaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00399
FXYD2	Human	methadone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00408
FXYD2	Human	metolazone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00105
FXYD2	Human	metoprolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00302
FXYD2	Human	mexiletine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00329
FXYD2	Human	nadolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00303
FXYD2	Human	nalbuphine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00691
FXYD2	Human	naloxone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00688
FXYD2	Human	naltrexone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00687
FXYD2	Human	nebivolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00366
FXYD2	Human	nicotine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00431
FXYD2	Human	nifedipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00379
FXYD2	Human	nimodipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00380
FXYD2	Human	nisoldipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00381
FXYD2	Human	nitrendipine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00382
FXYD2	Human	oxybuprocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00400
FXYD2	Human	oxycodone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00409
FXYD2	Human	oxymorphone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00412
FXYD2	Human	penbutolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00305
FXYD2	Human	pentazocine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00686
FXYD2	Human	phenytoin pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00327
FXYD2	Human	pindolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00306
FXYD2	Human	prilocaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00401
FXYD2	Human	procainamide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00324
FXYD2	Human	procaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00402
FXYD2	Human	propranolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00307
FXYD2	Human	quinidine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00323
FXYD2	Human	remifentanil pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00416
FXYD2	Human	ropivacaine pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00404
FXYD2	Human	sotalol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00660
FXYD2	Human	spironolactone pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00134
FXYD2	Human	timolol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00659
FXYD2	Human	torasemide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00118
FXYD2	Human	tramadol pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00671
FXYD2	Human	trehalose degradation pathway		EXP		10402751		SMPDB	SMP:00467
FXYD2	Human	triamterene pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00132
FXYD2	Human	trichlormethiazide pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00121
FXYD2	Human	verapamil pharmacodynamics pathway		EXP		10402751		SMPDB	SMP:00375

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	aldosterone signaling pathway		IEA		6907045		KEGG	hsa:04960
FXYD2	Human	bile acid transport pathway		IEA		6907045		KEGG	hsa:04976

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:154020\|PMID:11062458
FXYD2	Human	Chondrocalcinosis		IAGP		8699517		HPO	MIM:154020
FXYD2	Human	Generalized muscle weakness		IAGP		8699517		HPO	MIM:154020
FXYD2	Human	Hypocalciuria		IAGP		8699517		HPO	MIM:154020\|PMID:25765846
FXYD2	Human	Hypokalemia		IAGP		8699517		HPO	MIM:154020\|PMID:25765846
FXYD2	Human	Hypomagnesemia		IAGP		8699517		HPO	MIM:154020\|PMID:25765846
FXYD2	Human	Renal insufficiency		IAGP		8699517		HPO	MIM:154020
FXYD2	Human	Renal magnesium wasting		IAGP		8699517		HPO	MIM:154020\|PMID:25765846
FXYD2	Human	Seizure		IAGP		8699517		HPO	MIM:154020

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FXYD2	Human	Intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:156328851	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11625069	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11610207	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:15197234	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:405212731	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:16199547\|PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11611042	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11609785	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11605493	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11617498	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:8560048	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:11062458\|PMID:11929868\|PMID:12763860\|PMID:25765846\|PMID:28492532\|PMID:3298795
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:597675042	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:156438720	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11601211	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:597675079	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11622207	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:597675054	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11604583	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:597675067	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11621612	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:153301246	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:597675822	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:151846681	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:17576681\|PMID:25741868\|PMID:28492532\|PMID:9536098
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11607549	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:156050215	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:15168273	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:28909997	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11608149	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11611437	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:15190997	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:28904197	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:15137598	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:28906390	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:151753239	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:17576681\|PMID:25741868\|PMID:28492532\|PMID:9536098
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:11616254	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar
FXYD2	Human	Renal magnesium wasting		IAGP	RGD:15101653	8554872	ClinVar Annotator: match by term: MAGNESIUM WASTING, RENAL	ClinVar	PMID:25741868\|PMID:28492532
FXYD2	Human	Short stature		IAGP	RGD:21404992	8554872	ClinVar Annotator: match by term: Short stature	ClinVar	PMID:32581362

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.	Meij IC, etal., Nat Genet. 2000 Nov;26(3):265-6.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1940801	PMID:7566098	PMID:7916648	PMID:9048881	PMID:9405479	PMID:9463334	PMID:9600999	PMID:9915957	PMID:10559186	PMID:10950925	PMID:11112438	PMID:11832419
PMID:12477932	PMID:12907667	PMID:14702039	PMID:15071553	PMID:15252450	PMID:15489334	PMID:17316900	PMID:18000745	PMID:18448590	PMID:19056867	PMID:19865785	PMID:19879113
PMID:20379810	PMID:21130072	PMID:21873635	PMID:22588134	PMID:23196795	PMID:23376485	PMID:24204001	PMID:24258619	PMID:24688018	PMID:24794573	PMID:25765846	PMID:26910837
PMID:29987050	PMID:31318583	PMID:32296183	PMID:33845483	PMID:35803952	PMID:36313180	PMID:36949045

FXYD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	117,820,057 - 117,828,089 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	117,800,844 - 117,828,698 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	117,690,772 - 117,698,804 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	117,196,000 - 117,204,017 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	117,195,999 - 117,204,017	NCBI
Celera	11	114,848,637 - 114,856,650 (-)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	113,624,622 - 113,632,639 (-)	NCBI		HuRef
CHM1_1	11	117,576,366 - 117,584,383 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	117,836,469 - 117,844,497 (-)	NCBI		T2T-CHM13v2.0

Fxyd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	45,311,007 - 45,321,576 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	45,310,967 - 45,321,576 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	45,399,709 - 45,410,278 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	45,399,669 - 45,410,278 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	45,207,792 - 45,218,361 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	45,150,213 - 45,161,273 (+)	NCBI		MGSCv36	mm8
Celera	9	42,679,863 - 42,690,444 (+)	NCBI		Celera
Cytogenetic Map	9	A5.2	NCBI
cM Map	9	24.84	NCBI

Fxyd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	54,609,658 - 54,616,788 (+)	NCBI		GRCr8
mRatBN7.2	8	45,712,901 - 45,720,032 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	45,712,903 - 45,720,203 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	51,214,299 - 51,220,774 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	49,493,069 - 49,499,544 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	47,357,158 - 47,363,642 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	49,710,334 - 49,717,492 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	49,710,477 - 49,716,955 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	48,336,046 - 48,343,177 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	48,379,075 - 48,385,553 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	48,387,840 - 48,394,319 (+)	NCBI
Celera	8	45,295,931 - 45,302,409 (+)	NCBI		Celera
Cytogenetic Map	8	q22	NCBI

Fxyd2
(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_004955412	19,039,635 - 19,046,159 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	19,039,635 - 19,046,172 (-)	NCBI	ChiLan1.0	ChiLan1.0

FXYD2
(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	9	118,521,067 - 118,537,885 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	119,626,001 - 119,642,808 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	112,654,774 - 112,666,630 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	116,587,226 - 116,598,684 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	116,587,226 - 116,595,197 (-)	Ensembl	panpan1.1		panPan2

FXYD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	15,812,335 - 15,824,552 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	15,815,969 - 15,823,057 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	15,865,958 - 15,873,046 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	15,753,844 - 15,766,049 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	15,757,465 - 15,764,547 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	15,895,521 - 15,902,609 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	15,798,806 - 15,805,894 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	15,840,422 - 15,847,514 (+)	NCBI		UU_Cfam_GSD_1.0

Fxyd2
(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	NW_024404947	100,035,374 - 100,039,684 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936542	2,956,785 - 2,963,506 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936542	2,956,784 - 2,961,076 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FXYD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	9	45,165,314 - 45,172,440 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	50,244,542 - 50,252,397 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FXYD2
(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	1	109,187,301 - 109,199,729 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	109,186,886 - 109,198,267 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	16,860,199 - 16,864,880 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fxyd2
(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_004624784	13,200,018 - 13,206,131 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624784	13,198,308 - 13,209,780 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FXYD2
84 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001680.5(FXYD2):c.121G>A (p.Gly41Arg)	single nucleotide variant	Renal hypomagnesemia 2 [RCV000008123]\|not provided [RCV002512889]	Chr11:117822424 [GRCh38] Chr11:117693139 [GRCh37] Chr11:11q23.3	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000050331]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	copy number gain	See cases [RCV000050627]	Chr11:113444446..120648921 [GRCh38] Chr11:113315168..120519630 [GRCh37] Chr11:112820378..120024840 [NCBI36] Chr11:11q23.2-23.3	pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	copy number gain	See cases [RCV000053638]	Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25	pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	copy number gain	See cases [RCV000053640]	Chr11:116436425..118046231 [GRCh38] Chr11:116307142..117916946 [GRCh37] Chr11:115812352..117422156 [NCBI36] Chr11:11q23.3	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	copy number gain	See cases [RCV000134064]	Chr11:116851372..134998526 [GRCh38] Chr11:116722088..134868420 [GRCh37] Chr11:116227298..134373630 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	copy number gain	See cases [RCV000137453]	Chr11:116868935..135075271 [GRCh38] Chr11:116739651..134945165 [GRCh37] Chr11:116244861..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic\|conflicting data from submitters
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	copy number gain	See cases [RCV000137582]	Chr11:112864326..131189315 [GRCh38] Chr11:112832130..131059210 [GRCh37] Chr11:112240259..130564420 [NCBI36] Chr11:11q23.2-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	copy number gain	See cases [RCV000138307]	Chr11:116806268..135075271 [GRCh38] Chr11:116676984..134945165 [GRCh37] Chr11:116182194..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	copy number gain	See cases [RCV000139362]	Chr11:117333952..127709156 [GRCh38] Chr11:117204668..127579051 [GRCh37] Chr11:116709878..127084261 [NCBI36] Chr11:11q23.3-24.2	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000148276]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	copy number gain	not provided [RCV000767667]	Chr11:116691675..134889485 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	copy number gain	See cases [RCV000240308]	Chr11:115215434..120559928 [GRCh37] Chr11:11q23.3	pathogenic
NM_001680.5(FXYD2):c.76G>A (p.Val26Ile)	single nucleotide variant	Renal hypomagnesemia 2 [RCV000344545]\|not provided [RCV000898833]	Chr11:117822469 [GRCh38] Chr11:117693184 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.195G>A (p.Glu65=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV000394832]\|not provided [RCV000951298]	Chr11:117820678 [GRCh38] Chr11:117691393 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*124T>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV000372538]	Chr11:117820255 [GRCh38] Chr11:117690970 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)	single nucleotide variant	FXYD2-related disorder [RCV003409466]\|Renal hypomagnesemia 2 [RCV000305253]\|not provided [RCV000896358]	Chr11:117822715 [GRCh38] Chr11:117693430 [GRCh37] Chr11:11q23.3	benign\|likely benign\|uncertain significance
NM_001680.5(FXYD2):c.*78C>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV000351683]	Chr11:117820301 [GRCh38] Chr11:117691016 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*215G>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV000378276]	Chr11:117820164 [GRCh38] Chr11:117690879 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.183C>T (p.Ile61=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV000310735]\|not provided [RCV002520675]	Chr11:117820690 [GRCh38] Chr11:117691405 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*6+6C>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV000293213]\|not provided [RCV001572664]\|not specified [RCV001699351]	Chr11:117820660 [GRCh38] Chr11:117691375 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*105C>T	single nucleotide variant	Renal hypomagnesemia 2 [RCV000280340]	Chr11:117820274 [GRCh38] Chr11:117690989 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*71G>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV000389847]	Chr11:117820308 [GRCh38] Chr11:117691023 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*176T>G	single nucleotide variant	Renal hypomagnesemia 2 [RCV000320155]\|not provided [RCV004708186]	Chr11:117820203 [GRCh38] Chr11:117690918 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.45C>T (p.Asp15=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV000394589]\|not provided [RCV001642936]	Chr11:117822698 [GRCh38] Chr11:117693413 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.*188C>T	single nucleotide variant	Renal Hypomagnesemia, Dominant [RCV000262669]	Chr11:117820191 [GRCh38] Chr11:117690906 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.*1C>T	single nucleotide variant	Renal hypomagnesemia 2 [RCV000350394]\|not provided [RCV001672436]	Chr11:117820671 [GRCh38] Chr11:117691386 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.-10A>G	single nucleotide variant	Renal hypomagnesemia 2 [RCV000357754]\|not provided [RCV001672437]	Chr11:117824688 [GRCh38] Chr11:117695403 [GRCh37] Chr11:11q23.3	benign
NM_021603.4(FXYD2):c.20-2040C>T	single nucleotide variant	Renal Hypomagnesemia, Dominant [RCV000391902]\|not provided [RCV001712354]	Chr11:117824757 [GRCh38] Chr11:117695472 [GRCh37] Chr11:11q23.3	benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000449449]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3	copy number gain	See cases [RCV000447848]	Chr11:116684163..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000512291]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	not provided [RCV000683373]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	copy number gain	not provided [RCV000683365]	Chr11:116669751..120979377 [GRCh37] Chr11:11q23.3	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3	copy number gain	not provided [RCV000737686]	Chr11:116697066..134934063 [GRCh37] Chr11:11q23.3-25	pathogenic
NM_001680.5(FXYD2):c.114C>T (p.Phe38=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV002489416]\|not provided [RCV000971580]	Chr11:117822431 [GRCh38] Chr11:117693146 [GRCh37] Chr11:11q23.3	likely benign
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	copy number gain	not provided [RCV000767816]	Chr11:116700253..134904063 [GRCh37] Chr11:11q23.3-25	pathogenic
NM_001680.5(FXYD2):c.65-4G>A	single nucleotide variant	not provided [RCV000994730]	Chr11:117822484 [GRCh38] Chr11:117693199 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.166A>G (p.Lys56Glu)	single nucleotide variant	not provided [RCV003852713]	Chr11:117820869 [GRCh38] Chr11:117691584 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.*6+29G>A	single nucleotide variant	not provided [RCV001654517]	Chr11:117820637 [GRCh38] Chr11:117691352 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.65-60A>G	single nucleotide variant	not provided [RCV001650340]	Chr11:117822540 [GRCh38] Chr11:117693255 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.176+7G>A	single nucleotide variant	not provided [RCV000925117]	Chr11:117820852 [GRCh38] Chr11:117691567 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.198G>A (p.Pro66=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV002489243]\|not provided [RCV000932677]	Chr11:117820675 [GRCh38] Chr11:117691390 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.126C>T (p.Leu42=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV001106622]\|not provided [RCV000892322]	Chr11:117822419 [GRCh38] Chr11:117693134 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu)	single nucleotide variant	Inborn genetic diseases [RCV002542106]\|not provided [RCV000909383]	Chr11:117822688 [GRCh38] Chr11:117693403 [GRCh37] Chr11:11q23.3	likely benign\|uncertain significance
NM_001680.5(FXYD2):c.198G>T (p.Pro66=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV001106621]\|not provided [RCV000898832]	Chr11:117820675 [GRCh38] Chr11:117691390 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp)	single nucleotide variant	FXYD2-related disorder [RCV004756101]\|Inborn genetic diseases [RCV003169285]\|Renal hypomagnesemia 2 [RCV002502741]\|not provided [RCV000911919]\|not specified [RCV001818834]	Chr11:117822435 [GRCh38] Chr11:117693150 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.*7-61G>A	single nucleotide variant	not provided [RCV001684581]	Chr11:117820433 [GRCh38] Chr11:117691148 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.25+29G>A	single nucleotide variant	not provided [RCV001596616]	Chr11:117824625 [GRCh38] Chr11:117695340 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.140-164A>G	single nucleotide variant	not provided [RCV001639429]	Chr11:117821059 [GRCh38] Chr11:117691774 [GRCh37] Chr11:11q23.3	benign
NM_021603.4(FXYD2):c.20-2233A>G	single nucleotide variant	not provided [RCV001688403]	Chr11:117824950 [GRCh38] Chr11:117695665 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.139+279A>G	single nucleotide variant	not provided [RCV001656885]	Chr11:117822127 [GRCh38] Chr11:117692842 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.139+85T>C	single nucleotide variant	not provided [RCV001686897]	Chr11:117822321 [GRCh38] Chr11:117693036 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.*149A>G	single nucleotide variant	Renal hypomagnesemia 2 [RCV001105468]	Chr11:117820230 [GRCh38] Chr11:117690945 [GRCh37] Chr11:11q23.3	uncertain significance
Single allele	deletion	Short stature [RCV001003892]	Chr11:114433313..131230466 [GRCh37] Chr11:11q23.2-25	likely pathogenic
NM_001680.5(FXYD2):c.*7-58G>A	single nucleotide variant	not provided [RCV001646058]	Chr11:117820430 [GRCh38] Chr11:117691145 [GRCh37] Chr11:11q23.3	benign
NM_021603.4(FXYD2):c.-34C>T	single nucleotide variant	not provided [RCV001612200]	Chr11:117828047 [GRCh38] Chr11:117698762 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.90C>T (p.Gly30=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV001106623]\|not provided [RCV002556088]	Chr11:117822455 [GRCh38] Chr11:117693170 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.36C>G (p.Pro12=)	single nucleotide variant	Renal hypomagnesemia 2 [RCV001108782]	Chr11:117822707 [GRCh38] Chr11:117693422 [GRCh37] Chr11:11q23.3	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_021603.4(FXYD2):c.19+227T>C	single nucleotide variant	not provided [RCV001619247]	Chr11:117827768 [GRCh38] Chr11:117698483 [GRCh37] Chr11:11q23.3	benign
NC_000011.9:g.104288964_134937416dup	duplication	Distal trisomy 11q [RCV001250234]	Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25	pathogenic
NM_001680.5(FXYD2):c.53C>T (p.Pro18Leu)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005047407]\|not provided [RCV003108666]	Chr11:117822690 [GRCh38] Chr11:117693405 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.*6+118G>T	single nucleotide variant	not provided [RCV001759227]	Chr11:117820548 [GRCh38] Chr11:117691263 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.26-150G>A	single nucleotide variant	not provided [RCV001774926]	Chr11:117822867 [GRCh38] Chr11:117693582 [GRCh37] Chr11:11q23.3	likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup	duplication	Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]\|Immunodeficiency 18 [RCV003109226]\|Immunodeficiency 19 [RCV003109224]\|Inflammatory bowel disease 28 [RCV003109225]\|Isolated microphthalmia 5 [RCV003119251]\|RASopathy [RCV003119250]	Chr11:116691583..121500272 [GRCh37] Chr11:11q23.3-24.1	uncertain significance
NM_021603.4(FXYD2):c.19+80A>G	single nucleotide variant	not provided [RCV001768104]	Chr11:117827915 [GRCh38] Chr11:117698630 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.65-63C>T	single nucleotide variant	not provided [RCV001753108]	Chr11:117822543 [GRCh38] Chr11:117693258 [GRCh37] Chr11:11q23.3	likely benign
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	copy number gain	not provided [RCV001829187]	Chr11:112375478..128785742 [GRCh37] Chr11:11q23.1-24.3	pathogenic
NM_001680.5(FXYD2):c.176+6C>T	single nucleotide variant	Renal hypomagnesemia 2 [RCV005050425]\|not provided [RCV001872478]	Chr11:117820853 [GRCh38] Chr11:117691568 [GRCh37] Chr11:11q23.3	uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
NM_001680.5(FXYD2):c.176G>A (p.Arg59Lys)	single nucleotide variant	Inborn genetic diseases [RCV002592618]\|Renal hypomagnesemia 2 [RCV002492266]\|not provided [RCV001978374]	Chr11:117820859 [GRCh38] Chr11:117691574 [GRCh37] Chr11:11q23.3	uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup	duplication	not provided [RCV003107886]	Chr11:116660844..121500272 [GRCh37] Chr11:11q23.3-24.1	uncertain significance
NM_001680.5(FXYD2):c.26-5C>T	single nucleotide variant	FXYD2-related disorder [RCV003951095]\|not provided [RCV002122857]	Chr11:117822722 [GRCh38] Chr11:117693437 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.132C>T (p.Ile44=)	single nucleotide variant	not provided [RCV002161068]	Chr11:117822413 [GRCh38] Chr11:117693128 [GRCh37] Chr11:11q23.3	likely benign
NC_000011.9:g.(?_116660844)_(117870356_?)del	deletion	Nephronophthisis 15 [RCV003119459]\|not provided [RCV003109683]	Chr11:116660844..117870356 [GRCh37] Chr11:11q23.3	pathogenic\|uncertain significance\|no classifications from unflagged records
NC_000011.9:g.(?_117209303)_(120133495_?)dup	duplication	not provided [RCV003122151]	Chr11:117209303..120133495 [GRCh37] Chr11:11q23.3	uncertain significance
NM_021603.4(FXYD2):c.19+60C>T	single nucleotide variant	not provided [RCV002285718]	Chr11:117827935 [GRCh38] Chr11:117698650 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.25G>T (p.Gly9Cys)	single nucleotide variant	Renal hypomagnesemia 2 [RCV002266822]	Chr11:117824654 [GRCh38] Chr11:117695369 [GRCh37] Chr11:11q23.3	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_001680.5(FXYD2):c.140-11_140-7del	deletion	not provided [RCV002734780]	Chr11:117820902..117820906 [GRCh38] Chr11:117691617..117691621 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.192T>C (p.Asp64=)	single nucleotide variant	FXYD6-FXYD2-related disorder [RCV003936556]\|not provided [RCV003095466]	Chr11:117820681 [GRCh38] Chr11:117691396 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.63T>C (p.Tyr21=)	single nucleotide variant	not provided [RCV003100406]	Chr11:117822680 [GRCh38] Chr11:117693395 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.64+14C>G	single nucleotide variant	not provided [RCV002795817]	Chr11:117822665 [GRCh38] Chr11:117693380 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.26-11C>T	single nucleotide variant	not provided [RCV002569868]	Chr11:117822728 [GRCh38] Chr11:117693443 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.173G>A (p.Arg58His)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005050759]\|not provided [RCV002637909]	Chr11:117820862 [GRCh38] Chr11:117691577 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.75C>T (p.Thr25=)	single nucleotide variant	FXYD2-related disorder [RCV004756430]\|not provided [RCV002913731]	Chr11:117822470 [GRCh38] Chr11:117693185 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001680.5(FXYD2):c.26-20C>A	single nucleotide variant	not provided [RCV002576182]	Chr11:117822737 [GRCh38] Chr11:117693452 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.176+5G>C	single nucleotide variant	not provided [RCV002741928]	Chr11:117820854 [GRCh38] Chr11:117691569 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.139+9G>A	single nucleotide variant	not provided [RCV002700610]	Chr11:117822397 [GRCh38] Chr11:117693112 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.176+3G>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV003138508]\|not provided [RCV003089665]	Chr11:117820856 [GRCh38] Chr11:117691571 [GRCh37] Chr11:11q23.3	likely benign\|uncertain significance
NM_001680.5(FXYD2):c.26-9C>T	single nucleotide variant	not provided [RCV003011412]	Chr11:117822726 [GRCh38] Chr11:117693441 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.168G>A (p.Lys56=)	single nucleotide variant	not provided [RCV002835329]	Chr11:117820867 [GRCh38] Chr11:117691582 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.139+15C>T	single nucleotide variant	not provided [RCV002585876]	Chr11:117822391 [GRCh38] Chr11:117693106 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.177-6C>T	single nucleotide variant	not provided [RCV002606808]	Chr11:117820702 [GRCh38] Chr11:117691417 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.54G>A (p.Pro18=)	single nucleotide variant	not provided [RCV002582310]	Chr11:117822689 [GRCh38] Chr11:117693404 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.68_69del (p.Asp22_Tyr23insTer)	deletion	not provided [RCV002634668]	Chr11:117822476..117822477 [GRCh38] Chr11:117693191..117693192 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.151C>T (p.Arg51Cys)	single nucleotide variant	not provided [RCV003071120]	Chr11:117820884 [GRCh38] Chr11:117691599 [GRCh37] Chr11:11q23.3	uncertain significance
NM_021603.4(FXYD2):c.20-1939GTG[4]	microsatellite	not provided [RCV003697629]	Chr11:117824650..117824651 [GRCh38] Chr11:117695365..117695366 [GRCh37] Chr11:11q23.3	uncertain significance
Single allele	duplication	not provided [RCV003448710]	Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25	pathogenic
NM_001680.5(FXYD2):c.185A>G (p.Asn62Ser)	single nucleotide variant	not specified [RCV003489616]	Chr11:117820688 [GRCh38] Chr11:117691403 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.62A>G (p.Tyr21Cys)	single nucleotide variant	not provided [RCV003664702]	Chr11:117822681 [GRCh38] Chr11:117693396 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.57C>T (p.Phe19=)	single nucleotide variant	not provided [RCV003833609]	Chr11:117822686 [GRCh38] Chr11:117693401 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.177-6C>A	single nucleotide variant	not provided [RCV003838395]	Chr11:117820702 [GRCh38] Chr11:117691417 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.64+19G>A	single nucleotide variant	not provided [RCV003810727]	Chr11:117822660 [GRCh38] Chr11:117693375 [GRCh37] Chr11:11q23.3	benign
NM_001680.5(FXYD2):c.65-1G>A	single nucleotide variant	Renal hypomagnesemia 2 [RCV005040558]\|not provided [RCV003846065]	Chr11:117822481 [GRCh38] Chr11:117693196 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.187G>A (p.Glu63Lys)	single nucleotide variant	not provided [RCV003857260]	Chr11:117820686 [GRCh38] Chr11:117691401 [GRCh37] Chr11:11q23.3	uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	copy number gain	not provided [RCV004442759]	Chr11:116683755..134937416 [GRCh37] Chr11:11q23.3-25	pathogenic
NM_001680.5(FXYD2):c.*6G>T	single nucleotide variant	FXYD2-related disorder [RCV003966880]	Chr11:117820666 [GRCh38] Chr11:117691381 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.*6+1G>C	single nucleotide variant	FXYD2-related disorder [RCV003899777]	Chr11:117820665 [GRCh38] Chr11:117691380 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.52C>T (p.Pro18Ser)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005044404]	Chr11:117822691 [GRCh38] Chr11:117693406 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.49G>A (p.Asp17Asn)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005044406]	Chr11:117822694 [GRCh38] Chr11:117693409 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.41G>A (p.Gly14Glu)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005044407]	Chr11:117822702 [GRCh38] Chr11:117693417 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.52C>G (p.Pro18Ala)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005044405]	Chr11:117822691 [GRCh38] Chr11:117693406 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.64+18C>T	single nucleotide variant	not specified [RCV005238705]	Chr11:117822661 [GRCh38] Chr11:117693376 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.89G>A (p.Gly30Asp)	single nucleotide variant	not provided [RCV005242868]	Chr11:117822456 [GRCh38] Chr11:117693171 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001680.5(FXYD2):c.25+8T>C	single nucleotide variant	not provided [RCV005140307]	Chr11:117824646 [GRCh38] Chr11:117695361 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.25+7G>A	single nucleotide variant	not provided [RCV005070352]	Chr11:117824647 [GRCh38] Chr11:117695362 [GRCh37] Chr11:11q23.3	likely benign
NM_001680.5(FXYD2):c.186T>A (p.Asn62Lys)	single nucleotide variant	Renal hypomagnesemia 2 [RCV005044403]	Chr11:117820687 [GRCh38] Chr11:117691402 [GRCh37] Chr11:11q23.3	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	2018
Count of miRNA genes:	742
Interacting mature miRNAs:	866
Transcripts:	ENST00000260287, ENST00000292079, ENST00000317594, ENST00000528014, ENST00000532119, ENST00000533281, ENST00000534383
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597614109	GWAS1670969_H	potassium measurement QTL GWAS1670969 (human)		2e-11	potassium measurement	blood potassium level (CMO:0000496)	11	117823677	117823678	Human
597601994	GWAS1658854_H	type 2 diabetes mellitus QTL GWAS1658854 (human)		3e-18	type 2 diabetes mellitus		11	117822540	117822541	Human
597593802	GWAS1650662_H	potassium measurement QTL GWAS1650662 (human)		3e-12	potassium measurement	blood potassium level (CMO:0000496)	11	117823677	117823678	Human
597613960	GWAS1670820_H	potassium measurement QTL GWAS1670820 (human)		4e-11	potassium measurement	blood potassium level (CMO:0000496)	11	117823677	117823678	Human
597384844	GWAS1480918_H	type 2 diabetes mellitus QTL GWAS1480918 (human)		4e-09	type 2 diabetes mellitus		11	117822540	117822541	Human
1559115	SCL20_H	Serum cholesterol level QTL 20 (human)	3.22	0.001213	Lipid level	LDL cholesterol	11	100442501	126442501	Human

D11S1998

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	117,697,760 - 117,697,916	UniSTS	GRCh37
Build 36	11	117,202,970 - 117,203,126	RGD	NCBI36
Celera	11	114,855,607 - 114,855,759	RGD
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q24	UniSTS
HuRef	11	113,631,596 - 113,631,748	UniSTS
Marshfield Genetic Map	11	113.13	RGD
Marshfield Genetic Map	11	113.13	UniSTS
deCODE Assembly Map	11	119.99	UniSTS
Whitehead-RH Map	11	523.0	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

SHGC-132239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	117,697,765 - 117,697,964	UniSTS	GRCh37
Build 36	11	117,202,975 - 117,203,174	RGD	NCBI36
Celera	11	114,855,612 - 114,855,807	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	113,631,601 - 113,631,796	UniSTS
TNG Radiation Hybrid Map	11	54284.0	UniSTS

SGC33973

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	117,690,809 - 117,690,934	UniSTS	GRCh37
Build 36	11	117,196,019 - 117,196,144	RGD	NCBI36
Celera	11	114,848,656 - 114,848,781	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	113,624,641 - 113,624,766	UniSTS
GeneMap99-GB4 RH Map	11	382.08	UniSTS
Whitehead-RH Map	11	522.6	UniSTS

RH47007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	117,690,877 - 117,691,000	UniSTS	GRCh37
Build 36	11	117,196,087 - 117,196,210	RGD	NCBI36
Celera	11	114,848,724 - 114,848,847	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	113,624,709 - 113,624,832	UniSTS
GeneMap99-GB4 RH Map	11	379.36	UniSTS

D11S4955

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	q23	UniSTS
HuRef	11	113,631,536 - 113,631,747	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
1204	2337	2766	2217	4770	1699	2187	3	607	1788	445	2168	6999	6266	12	3634	1	817	1654	1477	167


RefSeq Transcripts	NG_011543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA309757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AA814197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF241235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF241236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF316896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX641053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ786191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U50743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X56688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000260287 ⟹ ENSP00000260287

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,820,140 - 117,828,092 (-)	Ensembl

Ensembl Acc Id:

ENST00000292079 ⟹ ENSP00000292079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,820,057 - 117,824,744 (-)	Ensembl

Ensembl Acc Id:

ENST00000317594

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,821,242 - 117,824,744 (-)	Ensembl

Ensembl Acc Id:

ENST00000514385

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,800,844 - 117,819,419 (-)	Ensembl

Ensembl Acc Id:

ENST00000528014 ⟹ ENSP00000432430

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,820,070 - 117,828,698 (-)	Ensembl

Ensembl Acc Id:

ENST00000532119 ⟹ ENSP00000436414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,801,730 - 117,828,068 (-)	Ensembl

Ensembl Acc Id:

ENST00000533281

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,820,560 - 117,824,740 (-)	Ensembl

Ensembl Acc Id:

ENST00000534383

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	117,820,147 - 117,824,744 (-)	Ensembl

RefSeq Acc Id:

NM_001680 ⟹ NP_001671

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,820,057 - 117,824,744 (-)	NCBI
GRCh37	11	117,690,790 - 117,699,408 (-)	NCBI
Build 36	11	117,196,000 - 117,200,644 (-)	NCBI Archive
HuRef	11	113,624,622 - 113,632,639 (-)	ENTREZGENE
CHM1_1	11	117,576,366 - 117,581,035 (-)	NCBI
T2T-CHM13v2.0	11	117,836,469 - 117,841,156 (-)	NCBI

Sequence:

show sequence

AGACACTCTCCAAAAAGCAGAGACAGCAGGAAGAGGGGAGTGGAGGCAGCCCATTCACCTGGGGAAATGACTGGGTTGTCGATGGACGGTGGCGGCAGCCCCAAGGGGGACGTGGACCCGTTCTACTA
TGACTATGAGACCGTTCGCAATGGGGGCCTGATCTTCGCTGGACTGGCCTTCATCGTGGGGCTCCTCATCCTCCTCAGCAGAAGATTCCGCTGTGGGGGCAATAAGAAGCGCAGGCAAATCAATGAAG
ATGAGCCGTAACAGCAGCCTCGGCGGTGCCACCCACTGCACTGGGGCCAGCTGGGAAGCCAAGCATGGCCCTGCCTCTGGCGCCTCCCCTTCTTCCCTGGGCTTTAGACCTTTGTCCCCGTCACTGCC
AGCGCTTGGGCTGAAGGAAGCTCCAGACTCAATGTGACCCCCAGGTGGCATCGCCAACTCCTGCCTCGTGCCACCTCATGCTTATAATAAAGCCGGCGTCAGAGACCGCTGCTTCCCTCACCTGCCTG
CCTGTCTCCCTCCTCTGTCACCACCAGCCTCTCCAAGCTCAAGTACAAATACAGCCGGGTCTCATTTGTTTTTTCAA

hide sequence

RefSeq Acc Id:

NM_021603 ⟹ NP_067614

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,820,057 - 117,828,089 (-)	NCBI
GRCh37	11	117,690,790 - 117,699,408 (-)	NCBI
Build 36	11	117,196,000 - 117,204,017 (-)	NCBI Archive
HuRef	11	113,624,622 - 113,632,639 (-)	ENTREZGENE
CHM1_1	11	117,576,366 - 117,584,383 (-)	NCBI
T2T-CHM13v2.0	11	117,836,469 - 117,844,497 (-)	NCBI

Sequence:

show sequence

ACTCTCCATCCAGGCCCCAGGCAAGCAGCACCTCCCTGCTCTCCTGCACTCCTGGACACAACCAGCAGCTCCTGCCATGGACAGGTGGTACCTGGGCGGCAGCCCCAAGGGGGACGTGGACCCGTTCT
ACTATGACTATGAGACCGTTCGCAATGGGGGCCTGATCTTCGCTGGACTGGCCTTCATCGTGGGGCTCCTCATCCTCCTCAGCAGAAGATTCCGCTGTGGGGGCAATAAGAAGCGCAGGCAAATCAAT
GAAGATGAGCCGTAACAGCAGCCTCGGCGGTGCCACCCACTGCACTGGGGCCAGCTGGGAAGCCAAGCATGGCCCTGCCTCTGGCGCCTCCCCTTCTTCCCTGGGCTTTAGACCTTTGTCCCCGTCAC
TGCCAGCGCTTGGGCTGAAGGAAGCTCCAGACTCAATGTGACCCCCAGGTGGCATCGCCAACTCCTGCCTCGTGCCACCTCATGCTTATAATAAAGCCGGCGTCAGAGACCGCTGCTTCCCTCACCTG
CCTGCCTGTCTCCCTCCTCTGTCACCACCAGCCTCTCCAAGCTCAAGTACAAATACAGCCGGGTCTCATTTGTTTTTTCAA

hide sequence


Protein RefSeqs	NP_001671	(Get FASTA)	NCBI Sequence Viewer
	NP_067614	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB09425	(Get FASTA)	NCBI Sequence Viewer
	AAG34359	(Get FASTA)	NCBI Sequence Viewer
	AAG34360	(Get FASTA)	NCBI Sequence Viewer
	AAG34361	(Get FASTA)	NCBI Sequence Viewer
	AAG37906	(Get FASTA)	NCBI Sequence Viewer
	AAG37907	(Get FASTA)	NCBI Sequence Viewer
	AAH05302	(Get FASTA)	NCBI Sequence Viewer
	AAH13289	(Get FASTA)	NCBI Sequence Viewer
	AAP35367	(Get FASTA)	NCBI Sequence Viewer
	BAC04693	(Get FASTA)	NCBI Sequence Viewer
	EAW67325	(Get FASTA)	NCBI Sequence Viewer
	EAW67326	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000260287
	ENSP00000260287.2
	ENSP00000292079
	ENSP00000292079.2
	ENSP00000432430.1
	ENSP00000436414.1
GenBank Protein	P54710	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_067614 ⟸ NM_021603
- Peptide Label:	isoform 2
- UniProtKB:	P54710 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRWYLGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQINEDEP hide sequence

RefSeq Acc Id:	NP_001671 ⟸ NM_001680
- Peptide Label:	isoform 1
- UniProtKB:	Q9GZP3 (UniProtKB/Swiss-Prot), Q53YC1 (UniProtKB/Swiss-Prot), Q15332 (UniProtKB/Swiss-Prot), Q9GZQ7 (UniProtKB/Swiss-Prot), P54710 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQINED EP hide sequence

Ensembl Acc Id:

ENSP00000292079 ⟸ ENST00000292079

Ensembl Acc Id:

ENSP00000436414 ⟸ ENST00000532119

Ensembl Acc Id:

ENSP00000260287 ⟸ ENST00000260287

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P54710-F1-model_v2	AlphaFold	P54710	1-66	view protein structure

RGD ID:

6788949

Promoter ID:

HG_KWN:14291

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

NM_001127489, NM_001680

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	117,200,234 - 117,200,734 (-)	MPROMDB

RGD ID:

6788950

Promoter ID:

HG_KWN:14292

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Jurkat, Lymphoblastoid

Transcripts:

NM_021603

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	117,203,896 - 117,204,897 (-)	MPROMDB

RGD ID:

7222253

Promoter ID:

EPDNEW_H16873

Type:

initiation region

Name:

FXYD2_4

Description:

FXYD domain containing ion transport regulator 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16875 EPDNEW_H16874 EPDNEW_H16876 EPDNEW_H16877

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,817,509 - 117,817,569	EPDNEW

RGD ID:

7222259

Promoter ID:

EPDNEW_H16874

Type:

initiation region

Name:

FXYD2_5

Description:

FXYD domain containing ion transport regulator 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16873 EPDNEW_H16875 EPDNEW_H16876 EPDNEW_H16877

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,824,438 - 117,824,498	EPDNEW

RGD ID:

7222257

Promoter ID:

EPDNEW_H16875

Type:

initiation region

Name:

FXYD2_2

Description:

FXYD domain containing ion transport regulator 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16873 EPDNEW_H16874 EPDNEW_H16876 EPDNEW_H16877

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,824,744 - 117,824,804	EPDNEW

RGD ID:

7222261

Promoter ID:

EPDNEW_H16876

Type:

initiation region

Name:

FXYD2_1

Description:

FXYD domain containing ion transport regulator 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16873 EPDNEW_H16875 EPDNEW_H16874 EPDNEW_H16877

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,828,089 - 117,828,149	EPDNEW

RGD ID:

7222263

Promoter ID:

EPDNEW_H16877

Type:

initiation region

Name:

FXYD2_3

Description:

FXYD domain containing ion transport regulator 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16873 EPDNEW_H16875 EPDNEW_H16874 EPDNEW_H16876

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	117,828,714 - 117,828,774	EPDNEW

Database	Acc Id	Source(s)
COSMIC	FXYD2	COSMIC
Ensembl Genes	ENSG00000137731	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000260287	ENTREZGENE
	ENST00000260287.2	UniProtKB/Swiss-Prot
	ENST00000292079	ENTREZGENE
	ENST00000292079.7	UniProtKB/Swiss-Prot
	ENST00000528014.5	UniProtKB/Swiss-Prot
	ENST00000532119.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Single helix bin	UniProtKB/Swiss-Prot
GTEx	ENSG00000137731	GTEx
HGNC ID	HGNC:4026	ENTREZGENE
Human Proteome Map	FXYD2	Human Proteome Map
InterPro	ATNG	UniProtKB/Swiss-Prot
	FXYD_motif	UniProtKB/Swiss-Prot
	Ion-transport_regulator_FXYD	UniProtKB/Swiss-Prot
KEGG Report	hsa:486	UniProtKB/Swiss-Prot
NCBI Gene	486	ENTREZGENE
OMIM	601814	OMIM
PANTHER	SODIUM/POTASSIUM-TRANSPORTING ATPASE SUBUNIT GAMMA	UniProtKB/Swiss-Prot
	SODIUM/POTASSIUM-TRANSPORTING ATPASE SUBUNIT GAMMA	UniProtKB/Swiss-Prot
Pfam	ATP1G1_PLM_MAT8	UniProtKB/Swiss-Prot
PharmGKB	PA28442	PharmGKB
PROSITE	FXYD	UniProtKB/Swiss-Prot
UniProt	ATNG_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q15332	ENTREZGENE
	Q53YC1	ENTREZGENE
	Q58I16_HUMAN	UniProtKB/TrEMBL
	Q58I17_HUMAN	UniProtKB/TrEMBL
	Q9GZP3	ENTREZGENE
	Q9GZQ7	ENTREZGENE
UniProt Secondary	Q15332	UniProtKB/Swiss-Prot
	Q53YC1	UniProtKB/Swiss-Prot
	Q9GZP3	UniProtKB/Swiss-Prot
	Q9GZQ7	UniProtKB/Swiss-Prot

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar