ZMYND10
Zinc Finger MYND-Type Containing 10
Gene Information Card
| Symbol | ZMYND10 |
|---|---|
| Full Name | Zinc Finger MYND-Type Containing 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 51364 ncbi.nlm.nih.gov/gene/51364 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | O75800 |
| OMIM ID | 607070 |
| HGNC ID | 13112 |
| Aliases | BLU, CILD22, DNAAF5 |
Description
ZMYND10 encodes a protein containing a MYND-type zinc finger domain, which is involved in cytoplasmic pre-assembly of axonemal dynein arms. It is essential for proper ciliary motility and mutations cause primary ciliary dyskinesia (PCD) with defects in outer and inner dynein arms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 22 (CILD22) | Loss-of-function mutations impair dynein arm assembly, leading to defective ciliary motility | OMIM #607070; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 22.3 | Medium |
| Lung | 12.1 | Medium |
| Trachea | 10.5 | Medium |
| Brain | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HAP1 | 15.2 | Ciliary model |
| A549 | 8.7 | Lung epithelial |
| HEK293 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.271_272del (p.Leu91Valfs*5) | Frameshift | Rare | Loss of function; dynein arm defect |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Likely loss of function; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that abolish protein function, leading to ciliary dyskinesia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ZMYND10.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • outer dynein arm assembly (GO:0036158) |
| • inner dynein arm assembly (GO:0036159) | • cilium-dependent cell motility (GO:0060285) |
| • zinc ion binding (GO:0008270) |
Pathways
• Cilium assembly (Reactome R-HSA-5617833)
• Axonemal dynein assembly (Reactome R-HSA-5620920)
Protein Summary
ZMYND10 is a 548-amino-acid protein with a MYND-type zinc finger domain. It localizes to the cytoplasm and is required for the pre-assembly of dynein arm complexes before their transport into cilia. Loss of ZMYND10 disrupts both outer and inner dynein arms, causing immotile cilia and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZMYND10 Knockout HEK293 Cell Line | EDJ-KQ11071 | Human | 51364 | Details Get a Quote |
| ZMYND10 Knockout HCT 116 Cell Line | EDJ-KQ38992 | Human | 51364 | Details Get a Quote |
| ZMYND10 Knockout HeLa Cell Line | EDJ-KQ56297 | Human | 51364 | Details Get a Quote |
| ZMYND10 Knockout A-549 Cell Line | EDJ-KQ64786 | Human | 51364 | Details Get a Quote |
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