C9orf72

C9orf72
Identifiers
Aliases	C9orf72, chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72, C9orf72-SMCR8 complex subunit, DENND9
External IDs	OMIM: 614260; MGI: 1920455; HomoloGene: 10137; GeneCards: C9orf72; OMA:C9orf72 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	27,573,866 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	35,226,175 bp
RNA expression pattern
	Top expressed in
	monocyte; ; mucosa of paranasal sinus; ; bronchial epithelial cell; ; cerebellar vermis; ; right lung; ; right uterine tube; ; cerebellar hemisphere; ; Brodmann area 23; ; right hemisphere of cerebellum; ; blood;
	Top expressed in
	facial motor nucleus; ; white adipose tissue; ; subcutaneous adipose tissue; ; stroma of bone marrow; ; olfactory epithelium; ; atrioventricular valve; ; spinal ganglia; ; anterior horn of spinal cord; ; pontine nuclei; ; atrium;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; guanyl-nucleotide exchange factor activity;
Cellular component	autophagosome; extracellular region; endosome; lysosome; cytoplasmic vesicle; nucleus; extracellular space; guanyl-nucleotide exchange factor complex; cytoplasm; Atg1/ULK1 kinase complex; axonal growth cone; main axon; P-body; membrane; axon; dendrite; growth cone; nuclear membrane; cell projection; perikaryon; cytoplasmic stress granule; neuron projection;
Biological process	endocytosis; positive regulation of macroautophagy; regulation of autophagy; regulation of TORC1 signaling; autophagy; negative regulation of protein phosphorylation; stress granule assembly; axon extension; regulation of actin filament organization; late endosome to lysosome transport; regulation of autophagosome assembly; negative regulation of GTP binding;
	Sources:Amigo / QuickGO
Orthologs
	203228
	73205
	ENSG00000147894
	ENSMUSG00000028300
	Q96LT7
	Q6DFW0
	NM_145005; NM_001256054; NM_018325
	NM_001081343; NM_028466
	NP_001242983; NP_060795; NP_659442
	NP_001074812; NP_082742
	Wikidata
View/Edit Human	View/Edit Mouse

C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72.

The human C9orf72 gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,546 to base pair 27,573,866 (GRCh38). Its cytogenetic location is at 9p21.2.^[5]

The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals. Disease-causing mutations in the gene were first discovered by two independent research teams, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National Institutes of Health, and were first reported in October 2011.^[6]^[7] The mutations in C9orf72 are significant because it is the first pathogenic mechanism identified to be a genetic link between familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). It is the most common mutation identified that is associated with familial FTD and/or ALS in Caucasians.^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147894 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028300 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI
^ DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. (October 2011). "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS". Neuron. 72 (2): 245–56. doi:10.1016/j.neuron.2011.09.011. PMC 3202986. PMID 21944778.
^ Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. (October 2011). "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD". Neuron. 72 (2): 257–68. doi:10.1016/j.neuron.2011.09.010. PMC 3200438. PMID 21944779.
^ Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G (2019). "C9orf72 Hexanucleotide Repeat Expansion". Behavioural Neurology. 2019: 2909168. doi:10.1155/2019/2909168. PMC 6350563. PMID 30774737.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147894 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028300 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI

[6] DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. (October 2011). "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS". Neuron. 72 (2): 245–56. doi:10.1016/j.neuron.2011.09.011. PMC 3202986. PMID 21944778.

[7] Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. (October 2011). "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD". Neuron. 72 (2): 257–68. doi:10.1016/j.neuron.2011.09.010. PMC 3200438. PMID 21944779.

[Leko-8] Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G (2019). "C9orf72 Hexanucleotide Repeat Expansion". Behavioural Neurology. 2019: 2909168. doi:10.1155/2019/2909168. PMC 6350563. PMID 30774737.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]