FUNDC2 Gene
FUN14 Domain Containing 2
Gene Information Card
| Symbol | FUNDC2 |
|---|---|
| Full Name | FUN14 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 65991 ncbi.nlm.nih.gov/gene/65991 |
| Ensembl ID | ENSG00000165724 |
| UniProt ID | Q9BWH2 |
| OMIM ID | 300697 |
| HGNC ID | 24973 |
| Aliases | HCBP6, PDIP2, FUN14 domain-containing protein 2 |
Description
FUNDC2 (FUN14 domain containing 2) is a protein-coding gene located on chromosome Xq28. The encoded protein contains a FUN14 domain and is localized to mitochondria, where it is involved in mitochondrial dynamics and apoptosis. FUNDC2 interacts with BCL2 family proteins and may play a role in regulating mitochondrial morphology and cell death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Potential involvement in mitochondrial dysfunction; FUNDC2 mutations may impair mitochondrial axonal transport | ClinVar; limited case reports |
| Cancer (breast, lung) | Altered expression linked to apoptosis resistance; FUNDC2 overexpression may promote cell survival | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.3 | Low |
| Testis | 15.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Embryonic kidney |
| HeLa | 6.2 | Cervical cancer |
| HepG2 | 7.8 | Hepatocellular carcinoma |
| MCF7 | 5.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown; predicted benign |
| c.412G>A (p.Glu138Lys) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • apoptotic process (GO:0006915) |
| • positive regulation of apoptotic process (GO:0043065) | • protein binding (GO:0005515) |
Pathways
• Apoptosis - mitochondrial pathway
• BCL2 family protein interactions
Protein Summary
FUNDC2 is a mitochondrial membrane protein containing a FUN14 domain. It interacts with BCL2 and BCL2L1 to modulate apoptosis. The protein is involved in mitochondrial morphology and may influence cell survival under stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUNDC2 Knockout HEK293 Cell Line | EDJ-KQ13529 | Human | 65991 | Details Get a Quote |
| FUNDC2 Knockout A-549 Cell Line | EDC90702 | Human | 65991 | Details Get a Quote |
| FUNDC2 Knockout HCT 116 Cell Line | EDJ-KQ43142 | Human | 65991 | Details Get a Quote |
| FUNDC2 Knockout HeLa Cell Line | EDJ-KQ43143 | Human | 65991 | Details Get a Quote |
