GREB1L
Gene associated with kidney and reproductive tract development
Gene Information Card
| Symbol | GREB1L |
|---|---|
| Full Name | GREB1 like retinoic acid receptor coactivator |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 80000 ncbi.nlm.nih.gov/gene/80000 |
| Ensembl ID | ENSG00000141449 |
| UniProt ID | Q9C091 |
| OMIM ID | 617731 |
| HGNC ID | 31033 |
| Aliases | GREB1, FLJ13984, KIAA1770 |
Description
GREB1L (GREB1 like retinoic acid receptor coactivator) is a protein-coding gene involved in embryonic development, particularly of the kidney and reproductive tract. It acts as a coactivator of retinoic acid receptor signaling. Mutations in GREB1L are associated with renal agenesis, Müllerian aplasia, and other congenital anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal agenesis | Loss-of-function mutations disrupt retinoic acid signaling, impairing kidney development | ClinVar, OMIM |
| Müllerian aplasia | Impaired coactivation of retinoic acid receptor leads to uterine and vaginal agenesis | ClinVar, OMIM |
| Congenital anomalies of kidney and urinary tract (CAKUT) | Disrupted GREB1L function affects ureteric bud branching | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Uterus | 8.7 | Low |
| Ovary | 6.5 | Low |
| Testis | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| A549 | 3.8 | Lung carcinoma |
| MCF7 | 2.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69*) | Nonsense | Rare | Loss of function; associated with renal agenesis |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging; reported in Müllerian aplasia |
| c.789delC | Frameshift | Rare | Loss of function; CAKUT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing retinoic acid signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • retinoic acid receptor binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • embryonic kidney development |
| • Müllerian duct development |
Pathways
• Retinoic acid receptor signaling pathway
• Developmental biology
Protein Summary
GREB1L is a nuclear protein that functions as a coactivator for retinoic acid receptors, regulating gene expression during organogenesis. It is essential for kidney and reproductive tract development. The protein contains a conserved domain of unknown function (DUF) and is expressed in embryonic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GREB1L Knockout HEK293 Cell Line | EDJ-KQ9424 | Human | 80000 | Details Get a Quote |
| GREB1L Knockout A-549 Cell Line | EDJ-KQ36078 | Human | 80000 | Details Get a Quote |
| GREB1L Knockout HCT 116 Cell Line | EDJ-KQ36079 | Human | 80000 | Details Get a Quote |
| GREB1L Knockout HeLa Cell Line | EDJ-KQ36080 | Human | 80000 | Details Get a Quote |
