Gene: C9orf72

203228
ALSFTD|DENNL72|FTDALS|FTDALS1
chromosome 9 open reading frame 72
protein-coding
9p21.2
Ensembl:ENSG00000147894 MIM:614260 Vega:OTTHUMG00000019716 UniprotKB:Q96LT7
NG_031977.1
PubMed
0   ANCO-SNPs
ND|AD
2   
1.725e-1 (AD)  5.206e-1 (ND)   (Frontal_Cortex)
5.583e-2 (AD)  2.595e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
SLC25A360.927
CDC270.915
ARMC80.912
SLC25A400.91
ATAD10.908
DCUN1D40.907
BTF3L40.906
SS18L10.905
BBS70.904
AVL90.904

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.485
OR4F29-0.451
MTRNR2L10-0.373
MTRNR2L6-0.371
MTRNR2L2-0.363
EVC2-0.357
MTRNR2L9-0.354
MTRNR2L8-0.349
WDR38-0.342
CCDC102A-0.335

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C5112952,2',4,4'-tetrabromodiphenyl ether"2,2',4,4'-tetrabromodiphenyl ether analog results in increased expression of C9ORF72 mRNA"19095052
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with panobinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with panobinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
D000082AcetaminophenAcetaminophen results in increased expression of C9ORF72 mRNA21420995
D016604Aflatoxin B1Aflatoxin B1 results in increased methylation of C9ORF72 gene27153756
D018501Antirheumatic AgentsAntirheumatic Agents results in decreased expression of C9ORF72 mRNA24449571
C006780bisphenol Abisphenol A results in decreased expression of C9ORF72 mRNA27685785
C006780bisphenol Abisphenol A affects the expression of C9ORF72 mRNA25181051
D020245p-Chloromercuribenzoic Acid"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
D019327Copper SulfateCopper Sulfate results in increased expression of C9ORF72 mRNA19549813
D016572CyclosporineCyclosporine results in increased expression of C9ORF72 mRNA20106945|2556210
C000944dicrotophosdicrotophos results in decreased expression of C9ORF72 mRNA28302478
D002117CalcitriolCalcitriol results in increased expression of C9ORF72 mRNA16002434
C118739entinostatentinostat results in decreased expression of C9ORF72 mRNA26272509
C118739entinostat"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in increased expression of C9ORF72 mRNA23649840
D005492Folic Acid[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of C9ORF72 mRNA24657277
C544151jinfukangjinfukang results in decreased expression of C9ORF72 mRNA27392435
C045463leflunomideleflunomide results in increased expression of C9ORF72 mRNA28988120
D008727Methotrexate[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of C9ORF72 mRNA24657277
D008727MethotrexateMethotrexate results in increased expression of C9ORF72 mRNA24657277
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of C9ORF72 mRNA23649840
C568376MT19c compoundMT19c compound results in increased expression of C9ORF72 mRNA21781307
D009532NickelNickel results in increased expression of C9ORF72 mRNA24768652|2558310
C016340o,p'-DDT"o,p'-DDT results in increased expression of C9ORF72 mRNA"18204070
C496932panobinostat"[NOG protein co-treated with panobinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C496932panobinostatpanobinostat results in decreased expression of C9ORF72 mRNA26272509
C086401pentabromodiphenyl etherpentabromodiphenyl ether analog results in increased expression of C9ORF72 mRNA19095052
D010936Plant ExtractsPlant Extracts results in increased expression of C9ORF72 mRNA23557933
D012822Silicon DioxideSilicon Dioxide analog results in increased expression of C9ORF72 mRNA25895662
C012589trichostatin A"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
C012589trichostatin Atrichostatin A results in decreased expression of C9ORF72 mRNA24935251|2627250
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in increased expression of C9ORF72 mRNA"26179874
D014520UrethaneUrethane results in increased expression of C9ORF72 mRNA28818685
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of C9ORF72 mRNA"27188386
D014635Valproic AcidValproic Acid results in decreased expression of C9ORF72 mRNA23179753|2519280
D014635Valproic AcidValproic Acid results in increased expression of C9ORF72 mRNA29154799
D014635Valproic AcidValproic Acid results in increased methylation of C9ORF72 gene29154799

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI21516116  24549040  25416956  27103069  27107012  27559131  
28195531  
GO:0017112Rab guanyl-nucleotide exchange factor activitycontributes_toIDA27103069  27617292  
GO:0017137Rab GTPase binding-IDA24549040  
GO ID GO Term Qualifier Evidence PubMed
GO:0001933negative regulation of protein phosphorylation-IMP27723745  
GO:0006897endocytosis-IBA21873635  
GO:0006897endocytosis-IMP24549040  
GO:0006914autophagy-IBA21873635  
GO:0006914autophagy-IMP24549040  
GO:0010506regulation of autophagy-IMP27103069  
GO:0016239positive regulation of macroautophagy-IGI27103069  
GO:0016239positive regulation of macroautophagy-IMP27103069  27334615  
GO:0034063stress granule assembly-IMP27037575  
GO:0048675axon extension-IMP27723745  
GO:0110053regulation of actin filament organization-IMP27723745  
GO:1902774late endosome to lysosome transport-ISS-  
GO:1903432regulation of TORC1 signaling-IMP27559131  
GO:2000785regulation of autophagosome assembly-IMP27334615  
GO ID GO Term Qualifier Evidence PubMed
GO:0000932P-body-IDA27037575  
GO:0005615extracellular space-IDA24549040  
GO:0005634nucleus-IDA24549040  27037575  
GO:0005737cytoplasm-IDA27037575  27193190  
GO:0005764lysosome-IDA24549040  27559131  
GO:0005768endosome-IBA21873635  
GO:0005768endosome-IDA24549040  
GO:0005776autophagosome-IBA21873635  
GO:0005776autophagosome-IDA24549040  
GO:0010494cytoplasmic stress granule-IDA27037575  
GO:0030425dendrite-IEA-  
GO:0031965nuclear membrane-IEA-  
GO:0032045guanyl-nucleotide exchange factor complex-IDA27103069  
GO:0043204perikaryon-IEA-  
GO:0044295axonal growth cone-IDA27723745  
GO:0044304main axon-IDA27723745  
GO:1990316Atg1/ULK1 kinase complexcolocalizes_withIDA27193190  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
29049464Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis. (2017 Dec 1)O'Brien MJAMA Neurol
29685899Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis. (2018 Apr 23)Visser AEJ Neurol Neurosurg Psychiatry