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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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C9orf78
chromosome 9 open reading frame 78
Chromosome 9 · 9q34.11
NCBI Gene: 51759Ensembl: ENSG00000136819.16HGNC: HGNC:24932UniProt: Q9NZ63
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingU5 snRNA bindingchromosome, centromeric regionnucleusprostate carcinomacomplicationHerpes Zosternervous system disease
✦AI Summary

C9orf78 is a multifunctional protein with roles in both splicing and chromosome 9. In the spliceosome, C9orf78 promotes usage of upstream 3'-splice sites at alternative NAGNAG splice sites and modulates exon inclusion by binding U5 snRNA and displacing WBP4 from SNRNP200 to inhibit its helicase activity 1. Notably, C9orf78 is not required for splicing of shelterin components 2, though its yeast homologue Tls1 regulates shelterin splicing for telomeric heterochromatin assembly 3. Beyond splicing, C9orf78 partially localizes to centromeres and is essential for proper chromosome 9; knockdown causes mitotic defects 2. The protein is growth-regulated, with expression induced by serum stimulation and transcription factors E2F1 and N-Myc 2. Clinically, C9orf78 overexpression occurs in multiple cancer cell lines 3, and it was downregulated in TAF_I-NUP214-positive T-cell acute lymphoblastic leukemia 4. Recently, C9orf78 was identified as a direct target of the miR-34/miR-449 cluster in sinonasal cancers, with dysregulation predicting tumor progression 5. Additionally, C9orf78 interacts with FAM50A to enhance ASNS expression and promote asparagine biosynthesis in breast cancer brain metastasis 6, highlighting its role in cancer-associated metabolic pathways.

Sources cited
1
C9orf78 promotes usage of upstream 3'-splice sites at NAGNAG sites, modulates exon inclusion, binds U5 snRNA, and displaces WBP4 from SNRNP200
PMID: 35241646
2
C9orf78 is required for proper chromosome segregation, localizes to centromeres, causes mitotic defects when knocked down, and is not required for shelterin splicing
PMID: 35167828
3
C9orf78 expression is growth-regulated, induced by serum stimulation and transcription factors E2F1 and N-Myc
PMID: 35167828
4
C9orf78 is the human homologue of yeast Tls1 and is overexpressed in multiple cancer cell lines
PMID: 25245948
5
C9orf78 is downregulated in TAF_I-NUP214-positive T-cell acute lymphoblastic leukemia
PMID: 20065082
6
C9orf78 is a direct target of miR-34/miR-449 cluster in sinonasal cancers with dysregulation predicting tumor progression
PMID: 38215077
7
C9orf78 interacts with FAM50A to enhance ASNS transcription and promote asparagine biosynthesis in breast cancer brain metastasis
PMID: 40531994
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.13Weak
complicationOpen Targets
0.03Suggestive
Herpes ZosterOpen Targets
0.03Suggestive
nervous system diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
trigeminal nerve diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
visceral LeishmaniasisOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
dementiaOpen Targets
0.00Suggestive
small cell lung carcinomaOpen Targets
0.00Suggestive
thymic lymphomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
thymus neoplasmOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRPF40BShared pathway100%CWC15Shared pathway100%NCBP2LShared pathway100%PRPF40AShared pathway100%EFTUD2Protein interaction100%CDC40Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
70%
Liver
54%
Heart
42%
Ovary
35%
Lung
35%
Gene Interaction Network
Click a node to explore
C9orf78PRPF40BCWC15NCBP2LPRPF40AEFTUD2CDC40
PROTEIN STRUCTURE
Preparing viewer…
PDB7OS2 · 2.76 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.44 [0.26–0.76]
RankingsWhere C9orf78 stands among ~20K protein-coding genes
  • #8,285of 20,598
    Most Researched54
  • #6,151of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedC9orf78
Sources retrieved5 papers
Response time—
📄 Sources
5
1
FAM50A drives breast cancer brain metastasis through interaction with C9ORF78 to enhance ʟ-asparagine production.
PMID: 40531994
Sci Adv · 2025
1.00
2
AGO2-RIP-Seq reveals miR-34/miR-449 cluster targetome in sinonasal cancers.
PMID: 38215077
PLoS One · 2024
0.80
3
Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length.
PMID: 25245948
Nucleic Acids Res · 2014
0.60
4
Combined interphase fluorescence in situ hybridization elucidates the genetic heterogeneity of T-cell acute lymphoblastic leukemia in adults.
PMID: 20065082
Haematologica · 2010
0.40
5
C9ORF78 partially localizes to centromeres and plays a role in chromosome segregation.
PMID: 35167828
Exp Cell Res · 2022
0.20