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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C3orf62
chromosome 3 open reading frame 62
Chromosome 3 · 3p21.31
NCBI Gene: 375341Ensembl: ENSG00000188315.8HGNC: HGNC:24771UniProt: Q6ZUJ4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingspermatogenesisneurodegenerative diseaseattention deficit hyperactivity disorderIrritabilityintelligence
✦AI Summary

C3orf62 is a chr3-associated protein essential for male fertility and spermatogenesis. As a potent transcriptional activator, C3orf62 functions through p300-dependent mechanisms to regulate gene expression in a natural chr3 context 1. The protein plays critical roles in pachynema progression during meiotic prophase I, with its function mediated by liquid-liquid phase separation properties; a frameshift mutation in C3orf62 correlates with nonobstructive azoospermia and pachynema arrest in human spermatocytes 2. C3orf62 likely participates in chr3 remodeling during spermatogenesis 3. Beyond reproductive biology, C3orf62 has been identified as a dysregulated tumor microenvironment-related gene associated with bladder cancer prognosis 4, and as a fusion partner in SRF rearrangements found in pediatric-type myoid neoplasms and myofibroma/myopericytoma tumors, where SRF-C3orf62 fusions create potent transcriptional activators 156. Additionally, genome-wide association studies identified C3orf62 as a novel gene associated with Alzheimer's disease risk through genetically-regulated brain expression 7. These findings establish C3orf62 as a multifunctional protein with roles in reproductive biology, cancer-related processes, and neurodegeneration.

Sources cited
1
C3orf62 is a potent p300-dependent transcriptional activator and functions as a fusion partner with SRF in myofibroma-associated tumors
PMID: 35016035
2
C3orf62 (human counterpart of mouse MAPS) drives phase separation and is essential for pachynema progression; frameshift mutations cause nonobstructive azoospermia
PMID: 38175751
3
C3orf62 is involved in chromatin remodeling during spermatogenesis and male reproductive function
PMID: 33064489
4
C3orf62 is a dysregulated tumor microenvironment-related gene associated with bladder cancer prognosis
PMID: 37965307
5
SRF-C3orf62 fusion is found in pediatric-type myoid neoplasms with indolent clinical behavior
PMID: 39864664
6
SRF-C3orf62 fusion is identified in cellular myofibroma/myopericytoma tumors
PMID: 28248815
7
C3orf62 is identified as a novel gene associated with Alzheimer's disease through transcriptome-wide association studies in cortical brain tissue
PMID: 40111921
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
IrritabilityOpen Targets
0.13Weak
intelligenceOpen Targets
0.12Weak
edemaOpen Targets
0.11Weak
autism spectrum disorderOpen Targets
0.10Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
major depressive disorderOpen Targets
0.10Suggestive
cannabis dependenceOpen Targets
0.10Suggestive
azoospermiaOpen Targets
0.09Suggestive
schizophreniaOpen Targets
0.09Suggestive
obesityOpen Targets
0.09Suggestive
major depressive episodeOpen Targets
0.09Suggestive
anorexia nervosaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACRV1Shared pathway100%SPAG4Shared pathway100%SSX1Shared pathway100%SPAG11BShared pathway100%MYCBPShared pathway100%SPANXA1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Lung
65%
Liver
45%
Heart
33%
Brain
28%
Gene Interaction Network
Click a node to explore
C3orf62ACRV1SPAG4SSX1SPAG11BMYCBPSPANXA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZUJ4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.52–1.17]
RankingsWhere C3orf62 stands among ~20K protein-coding genes
  • #14,371of 20,598
    Most Researched19
  • #12,267of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedC3orf62
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Identification and functional characterization of transcriptional activators in human cells.
PMID: 35016035
Mol Cell · 2022
1.00
2
Identification and validation of a dysregulated TME-related gene signature for predicting prognosis, and immunological properties in bladder cancer.
PMID: 37965307
Front Immunol · 2023
0.88
3
Brain and blood transcriptome-wide association studies identify five novel genes associated with Alzheimer's disease.
PMID: 40111921
J Alzheimers Dis · 2025
0.75
4
Pediatric-type Myoid Neoplasms of Somatic Soft Tissue: A Clinicopathological and Molecular Genetic Study of 78 Tumors, Highlighting Indolent Clinical Behavior and Frequent SRF Gene Rearrangements.
PMID: 39864664
Mod Pathol · 2025
0.63
5
The Functionally Unannotated Proteome of Human Male Tissues: A Shared Resource to Uncover New Protein Functions Associated with Reproductive Biology.
PMID: 33064489
J Proteome Res · 2020
0.50