EYA3: Eyes Absent Homolog 3 – Transcriptional Coactivator and Phosphatase
EYA3 gene structure, function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | EYA3 |
|---|---|
| Full Name | EYA transcriptional coactivator and phosphatase 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 2140 ncbi.nlm.nih.gov/gene/2140 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q99504 |
| OMIM ID | 601655 |
| HGNC ID | 3522 |
| Aliases | Eyes absent homolog 3, EYA3_HUMAN |
Description
EYA3 encodes a member of the eyes absent (EYA) family of proteins, which function as transcriptional coactivators and possess intrinsic phosphatase activity. The protein interacts with SIX and DACH family transcription factors to regulate organ development, particularly in the eye, kidney, and muscle. EYA3 also participates in DNA repair and cell cycle control through its threonine phosphatase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Branchiootorenal syndrome 1 | Haploinsufficiency of EYA3 disrupts developmental gene networks | OMIM #113650 |
| Ocular coloboma | Loss-of-function mutations impair eye development | ClinVar |
| Renal hypodysplasia | Reduced EYA3 activity alters kidney morphogenesis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Kidney | 8.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| HepG2 | 7.8 | Moderate expression |
| K562 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Loss of function |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Unknown effect |
| c.1234_1235del (p.Lys412Glufs*5) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the phosphatase domain lead to loss of coactivator and phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in EYA3.
Dominant Negative (DN)
Some missense variants may interfere with SIX/DACH complex formation, but dominant-negative effects are not well documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinal development (SIX-EYA-DACH network)
• DNA damage response (dephosphorylation of H2AX)
Protein Summary
EYA3 is a 510-amino acid protein containing a conserved N-terminal threonine phosphatase domain and a C-terminal EYA domain that mediates interaction with SIX transcription factors. It acts as a transcriptional coactivator by recruiting histone modifiers and dephosphorylating target proteins. EYA3 is essential for proper development of the eye, kidney, and muscle, and its dysregulation is linked to congenital anomalies and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EYA3 Knockout HEK293 Cell Line | EDJ-KQ3820 | Human | 2140 | Details Get a Quote |
| EYA3 Knockout A-549 Cell Line | EDJ-KQ27215 | Human | 2140 | Details Get a Quote |
| EYA3 Knockout HCT 116 Cell Line | EDJ-KQ27217 | Human | 2140 | Details Get a Quote |
| EYA3 Knockout HeLa Cell Line | EDJ-KQ27218 | Human | 2140 | Details Get a Quote |
