AutismKB 2.0

Annotation Detail for SLC6A20


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Basic Information Top
Gene Symbol:SLC6A20 ( MGC161475,SIT1,XT3,Xtrp3 )
Gene Full Name: solute carrier family 6 (proline IMINO transporter), member 20
Band: 3p21.31
Quick LinksEntrez ID:54716; OMIM: 605616; Uniprot ID:S6A20_HUMAN; ENSEMBL ID: ENSG00000163817; HGNC ID: 30927
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Amine compound SLC transporters
Transmembrane transport of small molecules
Amino acid and oligopeptide SLC transporters
Metabolism of amino acids and derivatives
No data
Pathway IDPathway Name
P00001Adrenaline and noradrenaline biosynthesis
Pathway IDPathway Name
500341Amino acid transport across the plasma membrane
500357Na+/Cl- dependent neurotransmitter transporters
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Iminoglycinuria, digenic
Hyperglycinuria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SLC6A20 mRNAaffects expression 16483693
D019324 beta-Naphthoflavone beta-Naphthoflavone results in increased expression of SLC6A20 mRNAincreases expression 19737606
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of SLC6A20 mRNAincreases expression 17010207
D004958 Estradiol Estradiol results in increased expression of SLC6A20 mRNAincreases expression 17010207
C474055 octylphenol octylphenol results in increased expression of SLC6A20 mRNAincreases expression 17010207
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D000236 Adenoma beta-Naphthoflavone 3.5219389873
MESH:D000686 Amyloidosis Diethylstilbestrol 4.9215469931
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.2415324884 17129689
MESH:D001943 Breast Neoplasms Estradiol 2.2418497071 17289903 19861407 16675129 17018787 12948864 17261762 14630087
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 3.2716924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.2716924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0018566989
MESH:D003456 Cryptorchidism Diethylstilbestrol 5.0016002989 12952375
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 5.2316402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 8.2715700306 16804899
MESH:D016889 Endometrial Neoplasms Estradiol 8.2719148513 11473722 18566989
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.8516513791 16002989 15751030 16611131 16534752
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.4916452187
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 4.3617088409
OMIM:138500 HYPERGLYCINURIA marker/mechanism
MESH:D006965 Hyperplasia Diethylstilbestrol 4.9212960047 14722030
MESH:D007021 Hypospadias Diethylstilbestrol 5.0616002989
MESH:C536285 Iminoglycinuria marker/mechanism 21572414
MESH:D007246 Infertility Diethylstilbestrol 4.7915036965
MESH:D007333 Insulin Resistance Estradiol 3.1816393666 16627594
MESH:D007674 Kidney Diseases Estradiol 2.7615618244
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 8.5715003126 16762066 14681315
MESH:D007680 Kidney Neoplasms Estradiol 8.5715610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.5417184923
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 5.2921295105 19389873
MESH:D008113 Liver Neoplasms Diethylstilbestrol 5.2916712894 15890375
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 3.3118164116
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.6915166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.7215700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 6.1316002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7717203775 16891317 11408345 11807958
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D008654 Mesothelioma marker/mechanism 17659810
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5516810080
MESH:D009369 Neoplasms Diethylstilbestrol 2.9115313581
MESH:D009389 Neovascularization, Pathologic Estradiol 4.2717289903
MESH:D009421 Nervous System Malformations Diethylstilbestrol 11.3111399458
MESH:D009421 Nervous System Malformations Estradiol 11.3111399458 16427766
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.7814722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 5.1615687265 16977796
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 4.6517184923
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.2515846301 17136230 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 3.2516740699
MESH:D013088 Spermatocele Diethylstilbestrol 5.3216709447 16002989
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8816452187 17306315 16712894
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.3816175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.7814652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.5116690809 15809267
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.9216002989 16513791
Pathway ID Pathway Name
REACT:20679 Amine compound SLC transporters
REACT:19419 Amino acid and oligopeptide SLC transporters
REACT:13 Metabolism of amino acids and derivatives
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134865308
    • Releated gene ID Related gene Name
    PA134865308SLC6A20
    No data
    Releated drug ID Related drug Name
    PA448055l-alanine
    PA448478l-arginine
    PA450197l-leucine
    PA450280l-lysine
    PA451330l-serine
    PA451822l-tyrosine
    PA451843l-valine
    PA451590taurine
    PA10323l-tryptophan
    PA449789glycine
    PA449173l-cysteine
    PA451125l-proline
    Drug Bank Top

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      (e.g. CHD8)

    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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