AutismKB 2.0

Annotation Detail for SLC45A2


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Basic Information Top
Gene Symbol:SLC45A2 ( 1A1,AIM1,MATP,SHEP5 )
Gene Full Name: solute carrier family 45, member 2
Band: 5p13.2
Quick LinksEntrez ID:51151; OMIM: 606202; Uniprot ID:S45A2_HUMAN; ENSEMBL ID: ENSG00000164175; HGNC ID: 16472
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00168Oculocutaneous albinism
Inherited disorders of amino acid metabolism
Genetic disorders
No data
Desease Name
NORMALVARIATION
skin color variation
pigmentation
DEVELOPMENTAL
skin pigmentation
Desease Name
Tanning
Hair color
Eye color
Skin pigmentation
Black vs. red hair color
Black vs. blond hair color
Desease Name
Skin/hair/eye pigmentation 5, black/nonblack hair
Skin/hair/eye pigmentation 5, dark/fair skin
Skin/hair/eye pigmentation 5, dark/light eyes
Oculocutaneous albinism, type IV
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005576 Forskolin Forskolin results in increased expression of SLC45A2 mRNAincreases expression 17460731
C059514 resveratrol resveratrol results in decreased expression of SLC45A2 mRNAdecreases expression 17460731
D018038 Sodium Selenite Sodium Selenite results in decreased expression of SLC45A2 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D058186 Acute Kidney Injury resveratrol 4.3316538975
MESH:D000236 Adenoma resveratrol 3.5415688382
OMIM:606574 ALBINISM, OCULOCUTANEOUS, TYPE IV marker/mechanism
MESH:D000544 Alzheimer Disease resveratrol 2.6416183991 16162502
MESH:D001169 Arthritis, Experimental resveratrol 3.7517115116
MESH:D050197 Atherosclerosis resveratrol 3.5116873680 17967414
MESH:D002545 Brain Ischemia resveratrol 5.0217600658
MESH:D001943 Breast Neoplasms resveratrol 2.6516393696 17534123 17651959
MESH:D002280 Carcinoma, Basal Cell marker/mechanism 19578363
MESH:D006528 Carcinoma, Hepatocellular resveratrol 2.3416227395 19321006
MESH:D018827 Carcinoma, Lewis Lung resveratrol 5.3316675471
MESH:D002294 Carcinoma, Squamous Cell marker/mechanism 19578363
MESH:D002294 Carcinoma, Squamous Cell resveratrol 2.8116227395
MESH:D002318 Cardiovascular Diseases resveratrol 3.7615458977
MESH:D019457 Chromosome Breakage Sodium Selenite 5.4115894690
MESH:D003092 Colitis resveratrol 4.7816474422
MESH:D003110 Colonic Neoplasms resveratrol 2.5116338953
MESH:D015179 Colorectal Neoplasms resveratrol 2.2316550006
MESH:D003327 Coronary Disease resveratrol 4.0116507316
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1916285004
MESH:D003921 Diabetes Mellitus, Experimental resveratrol 4.1616873680
MESH:D003928 Diabetic Nephropathies resveratrol 4.3816286809
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3715131321
MESH:D004487 Edema resveratrol 3.848985016
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental resveratrol 4.6117872969
MESH:D020345 Enterocolitis, Necrotizing resveratrol 5.5017923197
MESH:D006561 Herpes Simplex resveratrol 4.9216876885
MESH:D006937 Hypercholesterolemia resveratrol 4.4917188708
MESH:D006949 Hyperlipidemias resveratrol 4.5616873680
MESH:D017379 Hypertrophy, Left Ventricular resveratrol 4.7517488730
MESH:D020244 Infarction, Middle Cerebral Artery resveratrol 5.3017600658
MESH:D007249 Inflammation resveratrol 3.0316366677
MESH:D007251 Influenza, Human resveratrol 5.4116624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.5414714311
MESH:D015473 Leukemia, Promyelocytic, Acute resveratrol 3.8416087638
MESH:D008113 Liver Neoplasms resveratrol 2.8319073162 20405173 19812893 19321006
MESH:D016393 Lymphoma, B-Cell resveratrol 12.0917088997
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 12.0914737004
MESH:D008228 Lymphoma, Non-Hodgkin resveratrol 4.2614749477
MESH:D015674 Mammary Neoplasms, Animal resveratrol 4.9915688416
MESH:D008325 Mammary Neoplasms, Experimental resveratrol 3.3711606380 8985016
MESH:D008545 Melanoma marker/mechanism 18563784
MESH:D008545 Melanoma resveratrol 2.4117992120
MESH:D008659 Metabolic Diseases resveratrol 4.8617112576
MESH:D009101 Multiple Myeloma resveratrol 3.7717049120 17164350 16490592 16267019 14749477 17935668
MESH:D009134 Muscular Atrophy, Spinal resveratrol 5.6117962980
MESH:D009203 Myocardial Infarction resveratrol 3.1716525036 17188708 17125593 16317513 17015251 16456233
MESH:D017202 Myocardial Ischemia resveratrol 4.3717125593 17015251
MESH:D009205 Myocarditis resveratrol 5.5017322642
MESH:D009374 Neoplasms, Experimental resveratrol 4.658985016
MESH:D019636 Neurodegenerative Diseases resveratrol 4.1917652729
MESH:D020078 Neurogenic Inflammation resveratrol 4.9317929310
MESH:D015663 Osteoporosis, Postmenopausal resveratrol 4.7817513867
MESH:D011297 Prenatal Exposure Delayed Effects resveratrol 4.9216679765
MESH:D011471 Prostatic Neoplasms resveratrol 3.3816731767 17804756 15767336 17718901 17675339 17636462
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3818760546
MESH:D051436 Renal Insufficiency, Chronic resveratrol 6.4516325855
MESH:D015427 Reperfusion Injury resveratrol 3.4517058453 17520802 15827377 16314181 16317513
MESH:D012878 Skin Neoplasms resveratrol 3.208985016 15837718
OMIM:601367 STROKE, ISCHEMIC resveratrol 4.9316321402
MESH:D014062 Tongue Neoplasms resveratrol 4.6616227395
MESH:D002583 Uterine Cervical Neoplasms resveratrol 4.5517473185
MESH:D014594 Uterine Neoplasms resveratrol 4.7217044934
MESH:D018487 Ventricular Dysfunction, Left resveratrol 4.9517488730
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134897756
    • No data
    Releated disease ID Related disease Name
    PA444903Melanoma
    No data
    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


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