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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCDC136
coiled-coil domain containing 136
Chromosome 7 · 7q32.1
NCBI Gene: 64753Ensembl: ENSG00000128596.17HGNC: HGNC:22225UniProt: C9JU31
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acrosome assemblyspermatogenesissingle fertilizationacrosomal membraneneurodegenerative diseaseatrial fibrillationcongestive heart failurecardiac arrhythmia
✦AI Summary

CCDC136 is a testis-specific gene essential for male reproduction, primarily functioning in acrosome formation during spermatogenesis 1. The protein localizes abundantly to the acrosome of round and elongating spermatids 1. CCDC136 knockout mice are infertile due to severe acrosome formation defects, with significantly downregulated expression of acrosome-related proteins SPACA1 and PICK1 1. Additionally, anti-CCDC136 antibodies inhibit fertilization in vitro, indicating the protein's critical role in sperm-egg interaction 1. Beyond reproduction, CCDC136 has been associated with reading and language abilities. Genome-wide association studies identified the CCDC136/FLNC locus as significantly associated with reading and language phenotypes 2. Rare damaging variants in CCDC136 were enriched in individuals with reading disability 3, and neuroimaging analyses found associations between CCDC136/FLNC variants and altered cortical thickness in language-related brain regions 4. CCDC136 expression has also been linked to cancer prognosis. In colon cancer, CCDC136 expression correlated with patient survival outcomes 5, and in multiple myeloma, CCDC136 was identified as a PRC2 target gene involved in tumor suppressor pathways 6.

Sources cited
1
CCDC136 is testis-specific, localizes to acrosomes, and is essential for acrosome formation and fertilization; knockout males are infertile
PMID: 27076447
2
CCDC136/FLNC locus shows genome-wide association with reading and language traits
PMID: 25065397
3
Rare damaging variants in CCDC136 are enriched in individuals with reading disability
PMID: 28866788
4
CCDC136/FLNC variants associate with cortical thickness in language-related brain regions
PMID: 27476042
5
CCDC136 expression correlates with colon cancer prognosis
PMID: 34519615
6
CCDC136 is a PRC2 target gene involved in tumor suppressor and pro-apoptotic pathways in multiple myeloma
PMID: 37496441
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.43Moderate
congestive heart failureOpen Targets
0.38Weak
cardiac arrhythmiaOpen Targets
0.33Weak
dilated cardiomyopathyOpen Targets
0.33Weak
hypertrophic cardiomyopathyOpen Targets
0.32Weak
paroxysmal tachycardiaOpen Targets
0.30Weak
systolic heart failureOpen Targets
0.22Weak
heart failureOpen Targets
0.21Weak
cardiomyopathyOpen Targets
0.21Weak
chronic obstructive pulmonary diseaseOpen Targets
0.13Weak
nonischemic cardiomyopathyOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
cardioverter defibrillatorOpen Targets
0.09Suggestive
spermatogenic failure 42Open Targets
0.07Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 16Open Targets
0.07Suggestive
spermatogenic failure 21Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MEGF10Protein interaction83%BPY2Shared pathway67%CYLC1Shared pathway50%SPA17Shared pathway40%TMPRSS12Shared pathway40%SPMIP7Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
40%
Ovary
19%
Bone Marrow
15%
Lung
5%
Liver
2%
Gene Interaction Network
Click a node to explore
CCDC136MEGF10BPY2CYLC1SPA17TMPRSS12SPMIP7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JN2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.66–0.92]
RankingsWhere CCDC136 stands among ~20K protein-coding genes
  • #11,300of 20,598
    Most Researched33
  • #8,506of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedCCDC136
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
A Novel Testis-Specific Gene, Ccdc136, Is Required for Acrosome Formation and Fertilization in Mice.
PMID: 27076447
Reprod Sci · 2016
1.00
2
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.
PMID: 28866788
Hum Genet · 2017
0.86
3
Neuroimaging genetic analyses of novel candidate genes associated with reading and language.
PMID: 27476042
Brain Lang · 2017
0.71
4
Genome-wide screening for DNA variants associated with reading and language traits.
PMID: 25065397
Genes Brain Behav · 2014
0.57
5
Transcriptome-based identification of molecular markers related to the development and prognosis of Colon cancer.
PMID: 34519615
Nucleosides Nucleotides Nucleic Acids · 2021
0.43