AutismKB 2.0

Annotation Detail for C2orf3


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Basic Information Top
Gene Symbol:C2orf3 ( DNABF,GCF,TCF9 )
Gene Full Name: chromosome 2 open reading frame 3
Band: 2p11.2-p11.1
Quick LinksEntrez ID:6936; OMIM: 189901; Uniprot ID:GCF_HUMAN; ENSEMBL ID: ENSG00000005436; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CANCER
Acute lymphoblastic leukemia
dyslexia
NEUROLOGICAL
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D008345 Manganese Manganese results in decreased expression of C2ORF3 mRNAdecreases expression 17175027
C025340 manganese chloride manganese chloride results in decreased expression of C2ORF3 mRNAdecreases expression 17175027
D014810 Vitamin E Vitamin E results in decreased expression of C2ORF3 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000756 Anemia, Sideroblastic Manganese 12.6916910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 12.6916910769
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D005909 Glioblastoma Manganese 4.1817043766
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007674 Kidney Diseases Vitamin E 3.0312488133
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D020149 Manganese Poisoning Manganese 6.3916551646 19453300 16568477
MESH:D009069 Movement Disorders Manganese 5.5416551646
MESH:D009410 Nerve Degeneration Manganese 4.6216551646
MESH:D010300 Parkinson Disease Manganese 3.5011181820
MESH:D020734 Parkinsonian Disorders Manganese 4.9216140633
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D020521 Stroke Vitamin E 3.8816517955
No data
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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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