GDAP2: Ganglioside-Induced Differentiation-Associated Protein 2
A gene encoding a protein involved in neuronal differentiation and potential links to neurodegenerative disorders.
Gene Information Card
| Symbol | GDAP2 |
|---|---|
| Full Name | Ganglioside-Induced Differentiation-Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 54832 ncbi.nlm.nih.gov/gene/54832 |
| Ensembl ID | ENSG00000136156 |
| UniProt ID | Q9H6Y2 |
| OMIM ID | 606397 |
| HGNC ID | 4256 |
| Aliases | GDA-2, KIAA1792 |
Description
GDAP2 encodes ganglioside-induced differentiation-associated protein 2, a member of the GDAP family. The protein is involved in neuronal differentiation and may play a role in the regulation of mitochondrial dynamics and cellular signaling. Mutations in GDAP2 have been associated with autosomal recessive cerebellar ataxia and other neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive cerebellar ataxia | Loss-of-function mutations in GDAP2 disrupt neuronal differentiation and mitochondrial function, leading to cerebellar degeneration. | ClinVar, OMIM #606397 |
| Spastic paraplegia | Potential involvement in axonal degeneration; limited evidence from case reports. | ClinVar |
| Charcot-Marie-Tooth disease (suspected) | Rare variants reported; mechanism unclear. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 8.3 | Low |
| Spinal cord | 6.1 | Low |
| Testis | 4.2 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line; high expression |
| HeLa | 3.5 | Low expression |
| HEK293 | 2.8 | Low expression |
| K562 | 1.0 | Not detected |
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; associated with ataxia |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.1234del (p.Leu412Trpfs*5) | Frameshift | <0.01% | Loss of function; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature truncation or nonsense-mediated decay are associated with autosomal recessive cerebellar ataxia.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nervous system development (GO:0007399) | • mitochondrion (GO:0005739) |
| • neuronal cell body (GO:0043025) | • protein binding (GO:0005515) |
Pathways
• Ganglioside metabolism (Reactome: R-HSA-1660662)
• Mitochondrial dynamics (KEGG: hsa04142)
Protein Summary
GDAP2 is a 407-amino acid protein localized to mitochondria and neuronal cell bodies. It contains a conserved domain of unknown function (DUF) and is thought to mediate ganglioside-induced differentiation. The protein may interact with mitochondrial fission factors, influencing neuronal survival and axon maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDAP2 Knockout HEK293 Cell Line | EDJ-KQ13578 | Human | 54834 | Details Get a Quote |
| GDAP2 Knockout A-549 Cell Line | EDJ-KQ43232 | Human | 54834 | Details Get a Quote |
| GDAP2 Knockout HCT 116 Cell Line | EDJ-KQ43233 | Human | 54834 | Details Get a Quote |
| GDAP2 Knockout HeLa Cell Line | EDJ-KQ43234 | Human | 54834 | Details Get a Quote |
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