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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C17orf75
chromosome 17 open reading frame 75
Chromosome 17 · 17q11.2
NCBI Gene: 64149Ensembl: ENSG00000108666.12HGNC: HGNC:30173UniProt: Q9HAS0
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic vesicleintracellular protein transportvesicle tethering to Golgitrans-Golgi networkneurodegenerative diseasesmoking initiationovarian neoplasmschizophrenia
✦AI Summary

C17orf75 is a component of the WDR11 complex that facilitates vesicle tethering and intracellular protein transport. Specifically, it works together with TBC1D23 to mediate golgin-dependent capture of AP-1-derived vesicles at the trans-Golgi network 1. The gene may also play a role in spermatogenesis, though detailed mechanistic evidence is limited. C17orf75 expression is regulated by the minor spliceosome component SCNM1; loss of SCNM1 function severely reduces C17orf75 expression and impairs primary cilia function and Hedgehog signaling 2. Additionally, C17orf75 expression is responsive to essential micronutrients and is downregulated in cells with impaired ZIP8 (a manganese/zinc transporter), suggesting a potential link to metal ion homeostasis 3. C17orf75 has emerged as a tumor-associated antigen (TAA) with clinical relevance: autoantibodies against C17orf75 were identified in screening for hepatocellular carcinoma (HCC) biomarkers 4, and the gene showed differential expression in retinoblastoma tissues 5. However, the functional significance of C17orf75 alterations in these cancers remains to be elucidated. The protein's role in vesicle transport and its association with ciliopathies suggest it may be important for cellular signaling and organelle function.

Sources cited
1
C17orf75 is a component of the WDR11 complex that works with TBC1D23 to facilitate golgin-mediated capture of AP-1-derived vesicles
PMID: 29426865
2
C17orf75 expression is severely reduced in SCNM1-deficient cells, which show abnormal cilia elongation and impaired Hedgehog signaling
PMID: 36084634
3
C17orf75 is downregulated in ZIP8-knockout cells and its expression can be induced by essential micronutrients
PMID: 36330220
4
C17orf75 was identified as a tumor-associated antigen in a hepatocellular carcinoma diagnostic panel based on autoantibody detection
PMID: 34821436
5
C17orf75 showed differential gene expression in retinoblastoma samples compared to controls
PMID: 17604597
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.26Weak
smoking initiationOpen Targets
0.22Weak
ovarian neoplasmOpen Targets
0.21Weak
schizophreniaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
substance abuseOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
beta thalassemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM91A1Protein interaction98%TBC1D23Protein interaction97%SNF8Protein interaction90%VPS36Protein interaction90%VPS25Protein interaction83%VPS4BProtein interaction80%
Tissue Expression6 tissues
Brain
100%
Heart
97%
Ovary
56%
Liver
46%
Bone Marrow
32%
Lung
26%
Gene Interaction Network
Click a node to explore
C17orf75FAM91A1TBC1D23SNF8VPS36VPS25VPS4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HAS0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.95]
RankingsWhere C17orf75 stands among ~20K protein-coding genes
  • #10,597of 20,598
    Most Researched37
  • #8,880of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedC17orf75
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
PMID: 36084634
Am J Hum Genet · 2022
1.00
2
Single-gene knockout-coupled omics analysis identifies C9orf85 and CXorf38 as two uncharacterized human proteins associated with ZIP8 malfunction.
PMID: 36330220
Front Mol Biosci · 2022
0.80
3
A novel immunodiagnosis panel for hepatocellular carcinoma based on bioinformatics and the autoantibody-antigen system.
PMID: 34821436
Cancer Sci · 2022
0.60
4
Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis.
PMID: 17604597
Genomics · 2007
0.40
5
A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility.
PMID: 23394947
Cell · 2013
0.20