ITFG2 Gene - Integrin Alpha FG-GAP Repeat Containing 2
Comprehensive genomic and proteomic analysis of ITFG2, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | ITFG2 |
|---|---|
| Full Name | Integrin Alpha FG-GAP Repeat Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 116092 ncbi.nlm.nih.gov/gene/116092 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617768 |
| HGNC ID | 28472 |
| Aliases | MGC13017, FLJ22662 |
Description
ITFG2 (Integrin Alpha FG-GAP Repeat Containing 2) is a protein-coding gene located on chromosome 12p13.31. The encoded protein contains FG-GAP repeats characteristic of integrin alpha subunits, suggesting a role in cell adhesion and signaling. Expression data indicate broad tissue distribution with highest levels in the brain and testis. Mutations in ITFG2 have been associated with neurodevelopmental disorders, including intellectual disability and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and epilepsy | Loss-of-function mutations in ITFG2 disrupt integrin-mediated cell adhesion and signaling in neurons | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 12.8 | High |
| Lung | 5.1 | Medium |
| Liver | 3.4 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Embryonic kidney cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
| HeLa | 6.2 | Cervical cancer cells |
| K562 | 4.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function |
| c.1423G>A (p.Gly475Arg) | Missense | Rare | Likely damaging |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, associated with neurodevelopmental disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • metal ion binding (GO:0046872) |
Pathways
• Integrin signaling pathway
• Cell adhesion molecules (CAMs)
Protein Summary
The ITFG2 protein (UniProt Q8N6T3) contains FG-GAP repeats typical of integrin alpha subunits, indicating involvement in cell adhesion and extracellular matrix interactions. It is predicted to localize to the plasma membrane and participate in integrin-mediated signaling. Structural analysis suggests a role in neuronal development and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITFG2 Knockout HEK293 Cell Line | EDJ-KQ13869 | Human | 55846 | Details Get a Quote |
| ITFG2 Knockout A-549 Cell Line | EDJ-KQ43712 | Human | 55846 | Details Get a Quote |
| ITFG2 Knockout HCT 116 Cell Line | EDJ-KQ43713 | Human | 55846 | Details Get a Quote |
| ITFG2 Knockout HeLa Cell Line | EDJ-KQ43714 | Human | 55846 | Details Get a Quote |
