AutismKB 2.0

Annotation Detail for NMNAT2


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Basic Information Top
Gene Symbol:NMNAT2 ( C1orf15,KIAA0479,MGC2756,PNAT2 )
Gene Full Name: nicotinamide nucleotide adenylyltransferase 2
Band: 1q25.3
Quick LinksEntrez ID:23057; OMIM: 608701; Uniprot ID:NMNA2_HUMAN; ENSEMBL ID: ENSG00000157064; HGNC ID: 16789
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
NADSYN-PWYNAD biosynthesis II (from tryptophan)
NAD-BIOSYNTHESIS-IIINAD biosynthesis III
NAD-BIOSYNTHESIS-IINAD salvage pathway II
PWY-5653NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
PWY3O-4106NAD salvage pathway III
PYRIDNUCSYN-PWYNAD biosynthesis I (from aspartate)
Pathway IDPathway Name
hsa00760Nicotinate and nicotinamide metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of vitamins and cofactors
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of NMNAT2 mRNAincreases expression 19933214
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NMNAT2 mRNAdecreases expression 20713471
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NMNAT2 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 11752688 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8620146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515668235 8697196 12621046 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7716714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.1120471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9118606429 16354765 15340226 16959395 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7721137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7716984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2818520028 18569708 17053015 20464547 20869020 18816296 20064080 20135361 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2819555203 11884234
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311222880 11896295 11118676 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:11193 Metabolism of vitamins and cofactors
KEGG:00760 Nicotinate and nicotinamide metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25604
  • No data
    No data
    Releated drug ID Related drug Name
    PA448055l-alanine
    PA10090l-glutamine
    PA10323l-tryptophan
    Drug Bank Top

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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