FXYD2 (FXYD domain containing ion transport regulator 2) - Rat Genome Database

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Gene: FXYD2 (FXYD domain containing ion transport regulator 2) Homo sapiens
Analyze
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 P-type sodium:potassium-exchanging transporter activity. 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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,820,057 - 117,828,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,800,844 - 117,828,698 (-)EnsemblGRCh38hg38GRCh38
GRCh3711117,690,772 - 117,698,804 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,196,000 - 117,204,017 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411117,195,999 - 117,204,017NCBI
Celera11114,848,637 - 114,856,650 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,624,622 - 113,632,639 (-)NCBIHuRef
CHM1_111117,576,366 - 117,584,383 (-)NCBICHM1_1
T2T-CHM13v2.011117,836,469 - 117,844,497 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-deoxy-D-glucose  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucosamine  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
barium(0)  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
Deoxycorticosterone acetate  (ISO)
dicrotophos  (EXP)
diquat  (ISO)
diuron  (ISO)
ethylparaben  (EXP)
flavonoids  (ISO)
furan  (ISO)
glycine betaine  (ISO)
indole-3-methanol  (ISO)
inulin  (EXP)
leflunomide  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodimethylamine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
potassium chloride  (ISO)
potassium dichromate  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
spermidine  (EXP)
streptozocin  (ISO)
succimer  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway   (EXP)
aldosterone signaling pathway  (IEA)
alfentanil pharmacodynamics pathway  (EXP)
amiloride pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
bendroflumethiazide pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bile acid transport pathway  (IEA)
bisoprolol pharmacodynamics pathway  (EXP)
bumetanide pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
chlorothiazide pharmacodynamics pathway  (EXP)
chlorthalidone pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
cystinuria pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
eplerenone pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
etacrynic acid pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
furosemide pharmacodynamics pathway  (EXP)
Hartnup disease pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrochlorothiazide pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydroflumethiazide pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
iminoglycinuria pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
lactose degradation pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
lysinuric protein intolerance pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metolazone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
spironolactone pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
torasemide pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
trehalose degradation pathway  (EXP)
triamterene pharmacodynamics pathway  (EXP)
trichlormethiazide pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
Additional References at PubMed
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  


Genomics

Comparative Map Data
FXYD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,820,057 - 117,828,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,800,844 - 117,828,698 (-)EnsemblGRCh38hg38GRCh38
GRCh3711117,690,772 - 117,698,804 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,196,000 - 117,204,017 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411117,195,999 - 117,204,017NCBI
Celera11114,848,637 - 114,856,650 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,624,622 - 113,632,639 (-)NCBIHuRef
CHM1_111117,576,366 - 117,584,383 (-)NCBICHM1_1
T2T-CHM13v2.011117,836,469 - 117,844,497 (-)NCBIT2T-CHM13v2.0
Fxyd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,311,007 - 45,321,576 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,310,967 - 45,321,576 (+)EnsemblGRCm39 Ensembl
GRCm38945,399,709 - 45,410,278 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,399,669 - 45,410,278 (+)EnsemblGRCm38mm10GRCm38
MGSCv37945,207,792 - 45,218,361 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,150,213 - 45,161,273 (+)NCBIMGSCv36mm8
Celera942,679,863 - 42,690,444 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Fxyd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,609,658 - 54,616,788 (+)NCBIGRCr8
mRatBN7.2845,712,901 - 45,720,032 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,712,903 - 45,720,203 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx851,214,299 - 51,220,774 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0849,493,069 - 49,499,544 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0847,357,158 - 47,363,642 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,710,334 - 49,717,492 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,710,477 - 49,716,955 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,336,046 - 48,343,177 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,379,075 - 48,385,553 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,387,840 - 48,394,319 (+)NCBI
Celera845,295,931 - 45,302,409 (+)NCBICelera
Cytogenetic Map8q22NCBI
Fxyd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,039,635 - 19,046,159 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,039,635 - 19,046,172 (-)NCBIChiLan1.0ChiLan1.0
FXYD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29118,521,067 - 118,537,885 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111119,626,001 - 119,642,808 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,654,774 - 112,666,630 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111116,587,226 - 116,598,684 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11116,587,226 - 116,595,197 (-)Ensemblpanpan1.1panPan2
FXYD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,812,335 - 15,824,552 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,815,969 - 15,823,057 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,865,958 - 15,873,046 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,753,844 - 15,766,049 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,757,465 - 15,764,547 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,895,521 - 15,902,609 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,798,806 - 15,805,894 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,840,422 - 15,847,514 (+)NCBIUU_Cfam_GSD_1.0
Fxyd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,035,374 - 100,039,684 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,956,785 - 2,963,506 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,956,784 - 2,961,076 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FXYD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1945,165,314 - 45,172,440 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,244,542 - 50,252,397 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FXYD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,187,301 - 109,199,729 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,186,886 - 109,198,267 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,860,199 - 16,864,880 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fxyd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,200,018 - 13,206,131 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,198,308 - 13,209,780 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FXYD2
77 total Variants

Clinical 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
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 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 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 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 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		 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 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
miRNA Target Status

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407250905GWAS899881_Htype 2 diabetes mellitus QTL GWAS899881 (human)4e-09type 2 diabetes mellitus11117822540117822541Human

Markers in Region
D11S1998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,697,760 - 117,697,916UniSTSGRCh37
Build 3611117,202,970 - 117,203,126RGDNCBI36
Celera11114,855,607 - 114,855,759RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q24UniSTS
HuRef11113,631,596 - 113,631,748UniSTS
Marshfield Genetic Map11113.13RGD
Marshfield Genetic Map11113.13UniSTS
deCODE Assembly Map11119.99UniSTS
Whitehead-RH Map11523.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
SHGC-132239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,697,765 - 117,697,964UniSTSGRCh37
Build 3611117,202,975 - 117,203,174RGDNCBI36
Celera11114,855,612 - 114,855,807RGD
Cytogenetic Map11q23UniSTS
HuRef11113,631,601 - 113,631,796UniSTS
TNG Radiation Hybrid Map1154284.0UniSTS
SGC33973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,690,809 - 117,690,934UniSTSGRCh37
Build 3611117,196,019 - 117,196,144RGDNCBI36
Celera11114,848,656 - 114,848,781RGD
Cytogenetic Map11q23UniSTS
HuRef11113,624,641 - 113,624,766UniSTS
GeneMap99-GB4 RH Map11382.08UniSTS
Whitehead-RH Map11522.6UniSTS
RH47007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,690,877 - 117,691,000UniSTSGRCh37
Build 3611117,196,087 - 117,196,210RGDNCBI36
Celera11114,848,724 - 114,848,847RGD
Cytogenetic Map11q23UniSTS
HuRef11113,624,709 - 113,624,832UniSTS
GeneMap99-GB4 RH Map11379.36UniSTS
D11S4955  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23UniSTS
HuRef11113,631,536 - 113,631,747UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
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 AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,820,140 - 117,828,092 (-)Ensembl
Ensembl Acc Id: ENST00000292079   ⟹   ENSP00000292079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,820,057 - 117,824,744 (-)Ensembl
Ensembl Acc Id: ENST00000317594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,821,242 - 117,824,744 (-)Ensembl
Ensembl Acc Id: ENST00000514385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,800,844 - 117,819,419 (-)Ensembl
Ensembl Acc Id: ENST00000528014   ⟹   ENSP00000432430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,820,070 - 117,828,698 (-)Ensembl
Ensembl Acc Id: ENST00000532119   ⟹   ENSP00000436414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,801,730 - 117,828,068 (-)Ensembl
Ensembl Acc Id: ENST00000533281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,820,560 - 117,824,740 (-)Ensembl
Ensembl Acc Id: ENST00000534383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,820,147 - 117,824,744 (-)Ensembl
RefSeq Acc Id: NM_001680   ⟹   NP_001671
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,820,057 - 117,824,744 (-)NCBI
GRCh3711117,690,790 - 117,699,408 (-)NCBI
Build 3611117,196,000 - 117,200,644 (-)NCBI Archive
HuRef11113,624,622 - 113,632,639 (-)ENTREZGENE
CHM1_111117,576,366 - 117,581,035 (-)NCBI
T2T-CHM13v2.011117,836,469 - 117,841,156 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021603   ⟹   NP_067614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,820,057 - 117,828,089 (-)NCBI
GRCh3711117,690,790 - 117,699,408 (-)NCBI
Build 3611117,196,000 - 117,204,017 (-)NCBI Archive
HuRef11113,624,622 - 113,632,639 (-)ENTREZGENE
CHM1_111117,576,366 - 117,584,383 (-)NCBI
T2T-CHM13v2.011117,836,469 - 117,844,497 (-)NCBI
Sequence:
RefSeq Acc Id: NP_067614   ⟸   NM_021603
- Peptide Label: isoform 2
- UniProtKB: P54710 (UniProtKB/Swiss-Prot)
- 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:
Ensembl Acc Id: ENSP00000292079   ⟸   ENST00000292079
Ensembl Acc Id: ENSP00000436414   ⟸   ENST00000532119
Ensembl Acc Id: ENSP00000260287   ⟸   ENST00000260287
Ensembl Acc Id: ENSP00000432430   ⟸   ENST00000528014

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

Promoters
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 AssemblyChrPosition (strand)Source
Build 3611117,200,234 - 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 AssemblyChrPosition (strand)Source
Build 3611117,203,896 - 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 AssemblyChrPosition (strand)Source
GRCh3811117,817,509 - 117,817,569EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh3811117,824,438 - 117,824,498EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh3811117,824,744 - 117,824,804EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh3811117,828,089 - 117,828,149EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh3811117,828,714 - 117,828,774EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4026 AgrOrtholog
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