Gene Symbol | C9orf72 |
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Entrez Gene | 203228 |
Alt Symbol | ALSFTD, FTDALS |
Species | Human |
Gene Type | protein-coding |
Description | chromosome 9 open reading frame 72 |
Other Description | protein C9orf72 |
Swissprots | D3DRK6 G8I0B6 A8K5W0 Q96LT7 Q6NUS9 |
Accessions | EAW58558 EAW58559 EAW58560 EAW58561 Q96LT7 AI141996 AK001971 BAA92009 AK057806 BAB71583 AK291425 BAF84114 AL832229 AL832467 BC020851 BC039112 BC068445 AAH68445 BG718065 BG722125 BQ068108 BQ777139 DA802421 HQ257955 ADR82709 JN681271 AET41697 NM_001256054 NP_001242983 NM_018325 NP_060795 NM_145005 NP_659442 |
Function | May play a role in endosomal trafficking and autophagy. {ECO:0000269|PubMed:24549040}. |
Subcellular Location | Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Secreted. Note=Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779}. |
Tissue Specificity | Both 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}. |
C9orf72 CRISPR/Cas9 KO Plasmid (h) - sc-417630 from Santa Cruz Biotechnology
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C9orf72 HDR Plasmid (h) - sc-417630-HDR from Santa Cruz Biotechnology
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C9orf72 Double Nickase Plasmid (h) - sc-417630-NIC from Santa Cruz Biotechnology
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C9orf72 Double Nickase Plasmid (h2) - sc-417630-NIC-2 from Santa Cruz Biotechnology
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C9orf72 CRISPR Activation Plasmid (h) - sc-417630-ACT from Santa Cruz Biotechnology
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C9orf72 CRISPR Activation Plasmid (h2) - sc-417630-ACT-2 from Santa Cruz Biotechnology
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C9orf72 Lentiviral Activation Particles (h) - sc-417630-LAC from Santa Cruz Biotechnology
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C9orf72 Lentiviral Activation Particles (h2) - sc-417630-LAC-2 from Santa Cruz Biotechnology
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C9orf72 siRNA (h) - sc-92761 from Santa Cruz Biotechnology
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C9orf72 shRNA Plasmid (h) - sc-92761-SH from Santa Cruz Biotechnology
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C9orf72 shRNA (h) Lentiviral Particles - sc-92761-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU075861 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN5225 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND5225 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR09910 from Sigma-Aldrich
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C9orf72 siRNA (Human) - CRJ6334 from Cohesion Biosciences
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C9orf72 - MBS8210835 from MyBioSource
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Human C9orf72 siRNA - orb276835 from Biorbyt
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C9orf72 shRNA Plasmid (Human) - CHJ6334 from Cohesion Biosciences
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C9ORF72 miRNA 3'UTR clone - MiUTR3H-13191 from Creative biogene
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C9ORF72 miRNA 3'UTR clone - MiUTR3H-13192 from Creative biogene
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