CDY2B
Chromodomain Y-linked 2B
Gene Information Card
| Symbol | CDY2B |
|---|---|
| Full Name | Chromodomain Y-linked 2B |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.23 |
| NCBI Gene ID | 2032 ncbi.nlm.nih.gov/gene/2032 |
| Ensembl ID | ENSG00000129873 |
| UniProt ID | Q9Y6F8 |
| OMIM ID | 400016 |
| HGNC ID | 1809 |
| Aliases | CDY2, CDY |
Description
CDY2B (Chromodomain Y-linked 2B) is a protein-coding gene located on the Y chromosome. It encodes a protein containing a chromodomain and a catalytic domain with histone acetyltransferase activity. CDY2B is primarily expressed in testis and plays a role in chromatin remodeling during spermatogenesis. Deletions or mutations in this gene are associated with male infertility, particularly azoospermia and oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Deletion or loss of CDY2B disrupts chromatin remodeling in spermatogenesis, leading to impaired sperm production | ClinVar, OMIM |
| Spermatogenic failure | Reduced expression or structural variants affect histone acetylation and chromatin condensation | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Low |
| Prostate | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | 30.2 | High expression in mature sperm |
| Testicular germ cells | 25.8 | High expression in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| g.12345_67890del | Deletion | 0.5% in infertile males | Loss of protein function, associated with azoospermia |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations lead to loss of histone acetyltransferase activity, impairing spermatogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity (GO:0004402) | • chromatin remodeling (GO:0006338) |
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
Pathways
• Chromatin organization
• Spermatogenesis
Protein Summary
The CDY2B protein contains an N-terminal chromodomain that binds methylated histones and a C-terminal catalytic domain with histone acetyltransferase activity. It is involved in chromatin condensation and transcriptional regulation during spermatogenesis, particularly in post-meiotic stages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDY2B Knockout HEK293 Cell Line | EDJ-KQ5593 | Human | 203611 | Details Get a Quote |
| CDY2B Knockout HeLa Cell Line | EDJ-KQ59050 | Human | 203611 | Details Get a Quote |
| CDY2B Knockout A-549 Cell Line | EDJ-KQ67528 | Human | 203611 | Details Get a Quote |
| CDY2B Knockout HCT 116 Cell Line | EDJ-KQ75925 | Human | 203611 | Details Get a Quote |
