AutismKB 2.0

Annotation Detail for AHNAK2


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Basic Information Top
Gene Symbol:AHNAK2 ( C14orf78,KIAA2019 )
Gene Full Name: AHNAK nucleoprotein 2
Band: 14q32.33
Quick LinksEntrez ID:113146; OMIM: 608570; Uniprot ID:AHNK2_HUMAN; ENSEMBL ID: ENSG00000185567; HGNC ID: 20125
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of AHNAK2 proteinaffects expression 20106945
D004958 Estradiol Estradiol affects the expression of AHNAK2 mRNAaffects expression 14699072
D014810 Vitamin E Vitamin E results in increased expression of AHNAK2 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Estradiol 2.1811473722
MESH:D001943 Breast Neoplasms Estradiol 2.1018497071 16675129 14630087 12948864 17018787 17289903 17261762 19861407
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.2116111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1921507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1916924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0618566989
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D003928 Diabetic Nephropathies Estradiol 3.8319279558
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D016889 Endometrial Neoplasms Estradiol 3.2511473722 18566989 19148513
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.9015709030
MESH:D019584 Hot Flashes Estradiol 13.1617088409
MESH:D019584 Hot Flashes Vitamin E 13.1614716179
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007333 Insulin Resistance Estradiol 3.2316627594 16393666
MESH:D007674 Kidney Diseases Estradiol 6.8715618244
MESH:D007674 Kidney Diseases Vitamin E 6.8712488133
MESH:D007680 Kidney Neoplasms Estradiol 3.3615610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.6014659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.6016169303
MESH:D008113 Liver Neoplasms Aflatoxin B1 2.472125692 15890375 9163691 18177683
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.998603461
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.6314755239
MESH:D008175 Lung Neoplasms Vitamin E 2.6311062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.8216891317 11807958 17203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.3519453300
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.6216810080
MESH:D009389 Neovascularization, Pathologic Estradiol 4.4717289903
MESH:D009421 Nervous System Malformations Estradiol 4.2316427766 11399458
MESH:D010051 Ovarian Neoplasms Estradiol 2.3219401270
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.3720887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.1416740699
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1415084515
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D020521 Stroke Vitamin E 3.8816517955
MESH:D013978 Tibial Fractures Estradiol 5.5519048282
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