AutismKB 2.0

Annotation Detail for FXYD2


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Basic Information Top
Gene Symbol:FXYD2 ( ATP1G1,HOMG2,MGC12372 )
Gene Full Name: FXYD domain containing ion transport regulator 2
Band: 11q23.3
Quick LinksEntrez ID:486; OMIM: 601814; Uniprot ID:ATNG_HUMAN; ENSEMBL ID: ENSG00000137731; HGNC ID: 4026
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04973Carbohydrate digestion and absorption
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa04974Protein digestion and absorption
hsa04960Aldosterone-regulated sodium reabsorption
hsa04964Proximal tubule bicarbonate reclamation
hsa04260Cardiac muscle contraction
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Related Diseases/Disorders Top
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Desease Name
Hypomagnesemia-2, renal
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of FXYD2 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of FXYD2 mRNAaffects expression 16483693
D001151 Arsenic Arsenic affects the expression of FXYD2 mRNAaffects expression 18414638
D001464 Barium Barium results in decreased activity of FXYD2 proteindecreases activity 11533133
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of FXYD2 mRNAincreases expression 20106945
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in increased expression of FXYD2 mRNAincreases expression 15912405
D002118 Calcium Calcium inhibits the reaction [FXYD2 protein results in increased transport of Deoxyglucose]decreases reaction|increases transport 11533133
D002118 Calcium Calcium inhibits the reaction [FXYD2 protein results in increased transport of Inulin]decreases reaction|increases transport 11533133
D002118 Calcium Calcium results in decreased activity of FXYD2 proteindecreases activity 11533133
D003847 Deoxyglucose Calcium inhibits the reaction [FXYD2 protein results in increased transport of Deoxyglucose]decreases reaction|increases transport 11533133
D003847 Deoxyglucose FXYD2 protein results in increased transport of Deoxyglucoseincreases transport 11533133
D005419 Flavonoids Flavonoids results in increased expression of FXYD2 mRNAincreases expression 18035473
D007444 Inulin Calcium inhibits the reaction [FXYD2 protein results in increased transport of Inulin]decreases reaction|increases transport 11533133
D007444 Inulin FXYD2 protein results in increased transport of Inulinincreases transport 11533133
D008345 Manganese Manganese results in increased expression of FXYD2 mRNAincreases expression 17175027
C025340 manganese chloride manganese chloride results in increased expression of FXYD2 mRNAincreases expression 17175027
D013095 Spermidine FXYD2 protein results in increased transport of Spermidineincreases transport 11533133
D014284 Triiodothyronine Triiodothyronine results in increased expression of FXYD2 mRNAincreases expression 15953391
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FXYD2 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9011752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 1.9920127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.676695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4316835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.2817306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9711748828
MESH:D000756 Anemia, Sideroblastic Manganese 11.1316910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 11.1316910769
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1219183758
MESH:D020261 Arsenic Poisoning Arsenic 2.8716835338 12569548 16251483 18414634
MESH:D050197 Atherosclerosis Arsenic 3.2619371607 12928151
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7815746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0720146248 17474063
MESH:D001943 Breast Neoplasms Deoxyglucose 2.0718985042
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8216835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6115504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.2412619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.2417306315 16507464
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.7418922899 15504454 17687452
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7420419170
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1018640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3818670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Arsenic 3.4715738583 19152805 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.3316973168 18022660
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1112621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7811462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9615322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.059294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0116530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0311564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5011858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9920067830
MESH:D005534 Foot Diseases Arsenic 5.626392382
MESH:D005909 Glioblastoma Manganese 3.9317043766
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6610696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.4920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9315340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1115340226 16354765 8697196 18606429 16959395
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.4817050553
MESH:D006973 Hypertension Arsenic 5.2616076760 11953799 9931084
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2618850075 18670907
MESH:D006987 Hypesthesia Arsenic 5.6216093927
MESH:C537152 Hypomagnesemia 2, renal marker/mechanism
MESH:C537153 Hypomagnesemia primary marker/mechanism 11062458
MESH:D007249 Inflammation Flavonoids 5.0417296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0412878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3616580747
MESH:D007642 Keratosis Arsenic 5.0416930632 12749816
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1116316344
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.5717339181
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Arsenic 2.5511134558
MESH:D008113 Liver Neoplasms Aflatoxin B1 10.792125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms Arsenic 10.7916368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.7920195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.7916984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 5.868603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8612151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.8714755239
MESH:D008175 Lung Neoplasms Arsenic 4.8717976673 19168569 17306315
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.8718520028 20464547 20869020 18569708 20064080 18816296 17053015 20135361 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8711884234 19555203
MESH:D008275 Magnesium Deficiency marker/mechanism 11062458
MESH:D020149 Manganese Poisoning Manganese 5.5816568477 16551646 19453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2116381670
MESH:D009069 Movement Disorders Manganese 5.0416551646
MESH:D017202 Myocardial Ischemia Arsenic 9.0815371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.0812213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.1811141357
MESH:D009410 Nerve Degeneration Manganese 4.2916551646
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2514600291
MESH:D009436 Neural Tube Defects Arsenic 3.4716620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.4117056641
MESH:D010024 Osteoporosis Calcium 3.8017882678
MESH:D010051 Ovarian Neoplasms Arsenic 2.7517306315
MESH:D010300 Parkinson Disease Manganese 3.3811181820
MESH:D020734 Parkinsonian Disorders Manganese 4.5016140633
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3112520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.2116093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.046392382 16905509 15371236
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2411222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms Arsenic 2.8416140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.8417292933
MESH:D011471 Prostatic Neoplasms Deoxyglucose 2.8418985042
MESH:D011507 Proteinuria Arsenic 4.0421343184
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8718990726
MESH:D012640 Seizures Deoxyglucose 4.6217978042
MESH:D012871 Skin Diseases Arsenic 2.7517050553 19834688 17938729 6392382 18709164 16759981 16353154 16702368 17453740 15952646 17548696
MESH:D012878 Skin Neoplasms Arsenic 9.5117976673 16251483 17029826 19538983 17050553 15504454
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.5119755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.5116192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9612697716
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.2019429237 11144890 18640142 19322015 17306315 15987713 17976673
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2017053015
MESH:D014652 Vascular Diseases Arsenic 4.7917056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3115886252
Pathway ID Pathway Name
KEGG:04960 Aldosterone-regulated sodium reabsorption
KEGG:04976 Bile secretion
KEGG:04973 Carbohydrate digestion and absorption
KEGG:04260 Cardiac muscle contraction
KEGG:04961 Endocrine and other factor-regulated calcium reabsorption
KEGG:04978 Mineral absorption
KEGG:04972 Pancreatic secretion
KEGG:04974 Protein digestion and absorption
KEGG:04964 Proximal tubule bicarbonate reclamation
KEGG:04970 Salivary secretion
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28442
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00606 antagonist Cyclothiazide Antihypertensive Agents;Diuretics
    No data
    No data
    No data

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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