Gene Information
Gene NameC9orf72
OrganismHomo sapiens (Human)
Gene Length481
Protein NamesGuanine nucleotide exchange factor C9orf72
Target Namec9orf72 messenger rna
Target TypeClinical trial target
Gene Age645 ( ENSG00000147894 )
Evolutionary StageEumetazoa
AlphaFoldDBQ96LT7
Gene CardC9orf72
Uniprot IDQ96LT7
PfamPF15019
In ASDno
Allosteric Predictionno (-0.633613047)
Ortholog in AnimalsAlpaca_ C9orf72 ( ortholog_one2one )
Dog_ C11H9orf72 ( ortholog_one2one )
GuineaPig_ C9orf72 ( ortholog_one2one )
Macaque_ C9orf72 ( ortholog_one2one )
Mouse_ C9orf72 ( ortholog_one2one )
Pig_ C9orf72 ( ortholog_one2one )
Rat_ RGD1359108 ( ortholog_one2one )
Rabbit_ C9orf72 ( ortholog_one2one )
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityBoth isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);0.004740(Rat);0.075000(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 6LT0  (EM  3.20A  )  6V4U  (EM  3.80A  )  7MGE  (EM  3.94A  )  7O2W  (EM  -  ) 
DBSNP rs17769294 
Subcellular location [CC]Nucleus {ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575}. Cytoplasm {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:27037575, ECO:0000269|PubMed:27193190}. Cytoplasm, P-body {ECO:0000269|PubMed:27037575}. Cytoplasm, Stress granule {ECO:0000269|PubMed:27037575}. Endosome {ECO:0000269|PubMed:24549040}. Lysosome {ECO:0000269|PubMed:24549040, ECO:0000269|PubMed:27559131}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24549040}. Secreted {ECO:0000269|PubMed:24549040}. Cell projection, axon {ECO:0000269|PubMed:27723745}. Cell projection, growth cone {ECO:0000269|PubMed:27723745}. Perikaryon {ECO:0000250|UniProtKB:Q6DFW0}. Note=Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity). {ECO:0000250|UniProtKB:Q6DFW0, ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575}.;
[Isoform 1]: Perikaryon {ECO:0000269|PubMed:26174152}. Cell projection, dendrite {ECO:0000269|PubMed:26174152}. Presynapse {ECO:0000250|UniProtKB:Q6DFW0}. Postsynapse {ECO:0000250|UniProtKB:Q6DFW0}. Note=Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells. Also expressed diffusely throughout the cytoplasm of spinal motor neurons. {ECO:0000269|PubMed:26174152}.;
[Isoform 2]: Nucleus membrane {ECO:0000269|PubMed:26174152};
Peripheral membrane protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:26174152}. Note=Detected at the nuclear membrane of cerebellar Purkinje cells and spinal motor neurons. Also shows diffuse nuclear expression in spinal motor neurons. {ECO:0000269|PubMed:26174152}.
Mouse PG classificationNA
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