C9orf72 (C9orf72-SMCR8 complex subunit)

2019-04-01  

Identity

HGNC
C9orf72
LOCATION
9p21.2
LOCUSID
203228
ALIAS
ALSFTD,DENND9,DENNL72,FTDALS,FTDALS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 203228
MIM: 614260
HGNC: 28337
Ensembl: ENSG00000147894

Variants:

dbSNP: 203228
ClinVar: 203228
TCGA: ENSG00000147894
COSMIC: C9orf72

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147894ENST00000379995Q96LT7
ENSG00000147894ENST00000379997Q96LT7
ENSG00000147894ENST00000380003Q96LT7
ENSG00000147894ENST00000619707Q96LT7
ENSG00000147894ENST00000644136A0A2R8Y5K2
ENSG00000147894ENST00000647196A0A2R8Y5U5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
219447782011Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.1382
219447792011A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.1253
233930932013The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.419
224062282012Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.319
263088912015The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.306
245985412014C9orf72 nucleotide repeat structures initiate molecular cascades of disease.298
242483822013RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.265
263088992015GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.263
251034062014C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.228
250814822014Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.216

Citation

Dessen P

C9orf72 (C9orf72-SMCR8 complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57902/c9orf72