HYDIN Gene
HYDIN, Axonemal Microtubule Inner Protein
Gene Information Card
| Symbol | HYDIN |
|---|---|
| Full Name | HYDIN, Axonemal Microtubule Inner Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.2 |
| NCBI Gene ID | 54768 ncbi.nlm.nih.gov/gene/54768 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q4G0P3 |
| OMIM ID | 610812 |
| HGNC ID | 19368 |
| Aliases | FLJ20071, KIAA1861, MGC138290 |
Description
HYDIN encodes a large protein localized to the inner dynein arm of axonemal microtubules in cilia and flagella. It is essential for ciliary motility and structural integrity. Mutations in HYDIN are associated with primary ciliary dyskinesia (PCD) and hydrocephalus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations impair ciliary motility, leading to defective mucociliary clearance. | ClinVar, OMIM |
| Hydrocephalus | Disrupted ciliary function in ependymal cells impairs cerebrospinal fluid flow, causing ventricular enlargement. | OMIM, NCBI Gene |
| Situs Inversus | Ciliary dysfunction can disrupt left-right body axis determination during embryogenesis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.3 | Low |
| Kidney | 4.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.4 | Ciliated retinal pigment epithelial cell line |
| A549 | 8.9 | Lung adenocarcinoma cell line |
| HEK293 | 5.2 | Embryonic kidney cell line |
| HeLa | 3.1 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3172C>T (p.Arg1058*) | Nonsense | Rare | Premature stop, loss of function |
| c.4210_4211del (p.Glu1404fs) | Frameshift | Rare | Frameshift, loss of function |
| c.5485G>A (p.Gly1829Arg) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent HYDIN protein, causing ciliary dysmotility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • cilium (GO:0005929) |
| • axoneme assembly (GO:0035082) | • cilium-dependent cell motility (GO:0060285) |
| • cilium movement (GO:0003341) |
Pathways
• Ciliary motility pathway
• Axonemal dynein assembly
Protein Summary
HYDIN is a large, coiled-coil protein (approximately 5000 amino acids) that localizes to the inner dynein arm of ciliary axonemes. It is critical for generating and regulating ciliary beat frequency and waveform. The protein interacts with other axonemal components to ensure proper microtubule sliding and ciliary bending.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYDIN Knockout HEK293 Cell Line | EDJ-KQ13794 | Human | 54768 | Details Get a Quote |
| HYDIN Knockout HeLa Cell Line | EDJ-KQ56472 | Human | 54768 | Details Get a Quote |
| HYDIN Knockout A-549 Cell Line | EDJ-KQ64963 | Human | 54768 | Details Get a Quote |
| HYDIN Knockout HCT 116 Cell Line | EDJ-KQ73408 | Human | 54768 | Details Get a Quote |
