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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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C1orf146
chromosome 1 open reading frame 146
Chromosome 1 Β· 1p22.1
NCBI Gene: 388649Ensembl: ENSG00000203910.9HGNC: HGNC:24032UniProt: Q5VVC0
9PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
neuroendocrine neoplasmmale infertilityazoospermiapartial chromosome Y deletion
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

chromosome 1 open reading frame 146

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neuroendocrine neoplasmOpen Targets
0.28Weak
male infertilityOpen Targets
0.27Weak
azoospermiaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.05Suggestive
isochromosomy YpOpen Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.05Suggestive
spermatogenic failure 63Open Targets
0.05Suggestive
spermatogenic failure 48Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
Pathogenic Variants1
NM_001012425.2(C1orf146):c.266del (p.Leu89fs)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 89
View on ClinVar β†—
Related Genes
MSH4Protein interaction86%MSH5Protein interaction86%SLC39A1Protein interaction86%TEX11Protein interaction86%HFM1Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
91%
Ovary
45%
Lung
23%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
C1orf146MSH4MSH5SLC39A1TEX11HFM1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5VVC0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.85LoF Tolerant
pLIβ“˜
0.10Tolerant
Observed/Expected LoF0.88 [0.33–1.85]
RankingsWhere C1orf146 stands among ~20K protein-coding genes
  • #17,282of 20,598
    Most Researched9
  • #5,481of 5,498
    Most Pathogenic Variants1
  • #16,825of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedC1orf146
Sources retrieved0 papers
Response timeβ€”