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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CDY1B
chromodomain Y-linked 1B
Chromosome Y · Yq11.23
NCBI Gene: 253175Ensembl: ENSG00000172288.8HGNC: HGNC:1809UniProt: Q9Y6F8
18PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
infertilityazoospermiamale infertilityneoplasm
✦AI Summary

CDY1B (chrY Y-linked 1B) is a Y-chromosome Y located in the azoospermia factor c (AZFc) region that plays a role in spermatogenesis. As a single-copy gene with a proximal homolog (CDY1a), CDY1b exists in multiple copies on the Y chrY 1. The gene is expressed in testicular tissue 2, and its protein product contains a chrY, suggesting involvement in chrY-related functions during spermatogenesis. CDY1b deletion shows population-specific associations with male infertility. In Tunisian populations, CDY1b deletion (without CDY1a deletion) was significantly more frequent in infertile patients compared to fertile men (7% vs 1.7%, p=0.02) 3. Combined gr/gr-DAZ2-DAZ4-CDY1b deletions constitute high-risk factors for infertility in this population 2. In contrast, some studies found limited fertility impact; European populations showed no consistent relationship between CDY1b presence/absence and spermatogenic failure across Y-chromosome Y 4. Chinese Han populations demonstrated that gr/gr deletions involving CDY1b with DAZ1/DAZ2 confer significantly higher risk than other deletion subtypes 5. CDY1b double deletions (with CDY1a) appear most severe, being present in all patients with Sertoli cell-only syndrome non-obstructive azoospermia 6. Clinically, CDY1b deletion status may be relevant for fertility assessment, particularly in non-European populations, though genetic counseling should account for Y-chrY haplogroup background.

Sources cited
1
CDY1b is a single-copy gene in the AZFc region; gr/gr deletions create different deletion types affecting CDY1a and CDY1b
PMID: 15520406
2
CDY1b deletion is significantly more frequent in infertile men (7%) vs fertile men (1.7%) in Tunisian population
PMID: 25042452
3
gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population
PMID: 27457284
4
No relationship between CDY1b presence/absence and spermatogenic failure in some Y-chromosome lineages
PMID: 18990391
5
gr/gr-DAZ1/DAZ2 deletions involving CDY1b are significant risk factors in Chinese Han population
PMID: 20039973
6
CDY1b double deletions present in all Sertoli cell-only syndrome patients with non-obstructive azoospermia
PMID: 35358715
7
Complete loss of AZFc including CDY1B was not observed in control group but found in infertile men
PMID: 34462535
Disease Associationsⓘ16
infertilityOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colon carcinomaOpen Targets
0.01Suggestive
Becker muscular dystrophyOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
pneumoniaOpen Targets
0.00Suggestive
small cell osteogenic sarcomaOpen Targets
0.00Suggestive
Abnormal sperm morphologyOpen Targets
0.00Suggestive
anemiaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BPY2CProtein interaction97%BPY2BProtein interaction97%H3C13Protein interaction95%H3C14Protein interaction94%H3-3AProtein interaction94%H3C12Protein interaction92%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CDY1BBPY2CBPY2BH3C13H3C14H3-3AH3C12
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y6F8
View on AlphaFold ↗
RankingsWhere CDY1B stands among ~20K protein-coding genes
  • #14,663of 20,598
    Most Researched18
Genes detectedCDY1B
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Y-chromosome AZFc structural architecture and relationship to male fertility.
PMID: 18990391
Fertil Steril · 2009
1.00
2
Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men.
PMID: 25042452
Gene · 2014
0.86
3
gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.
PMID: 27457284
Gene · 2016
0.71
4
Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization.
PMID: 35358715
Biomed J · 2023
0.57
5
Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population.
PMID: 20039973
Int J Androl · 2010
0.43