ROGDI Gene
ROGDI Homolog, a Leucine Zipper Protein Implicated in Kohlschütter-Tönz Syndrome
Gene Information Card
| Symbol | ROGDI |
|---|---|
| Full Name | rogdi homolog (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79641 ncbi.nlm.nih.gov/gene/79641 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q9GZN7 |
| OMIM ID | 614574 |
| HGNC ID | 23562 |
| Aliases | KIAA0782, ROGDI1 |
Description
The ROGDI gene encodes a leucine zipper-containing protein of unknown molecular function. It is evolutionarily conserved and expressed in various tissues, including brain and tooth ameloblasts. Mutations in ROGDI cause Kohlschütter-Tönz syndrome (KTS), an autosomal recessive disorder characterized by early-onset epilepsy, intellectual disability, and amelogenesis imperfecta (dental enamel defects). The protein localizes to the nuclear envelope and may play a role in cell cycle regulation or nuclear architecture.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kohlschütter-Tönz Syndrome (KTS) | Loss-of-function mutations in ROGDI disrupt protein function, leading to neurological and dental developmental defects. | OMIM #226750; ClinVar; multiple case reports (e.g., Schossig et al., 2012) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Low |
| Salivary gland | 4.8 | Low |
| Testis | 3.9 | Low |
| Kidney | 3.1 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.5 | Neuronal model |
| HeLa (cervical carcinoma) | 3.8 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 2.9 | Hepatic |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.460C>T (p.Arg154*) | Nonsense | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.208_209del (p.Leu70Valfs*15) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic ROGDI mutations are loss-of-function (nonsense, frameshift, start loss), leading to protein truncation or absence.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope (GO:0005635) | • protein binding (GO:0005515) |
| • leucine zipper domain (GO:0046983) |
Protein Summary
ROGDI is a 287-amino acid protein containing a leucine zipper motif, suggesting involvement in protein-protein interactions. It is predominantly localized to the nuclear envelope. Despite its unknown biochemical function, its conservation and disease association highlight its essential role in neuronal and dental development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROGDI Knockout HEK293 Cell Line | EDJ-KQ15118 | Human | 79641 | Details Get a Quote |
| ROGDI Knockout A-549 Cell Line | EDJ-KQ45711 | Human | 79641 | Details Get a Quote |
| ROGDI Knockout HCT 116 Cell Line | EDJ-KQ45712 | Human | 79641 | Details Get a Quote |
| ROGDI Knockout HeLa Cell Line | EDJ-KQ45713 | Human | 79641 | Details Get a Quote |
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