IGSF9B
Immunoglobulin Superfamily Member 9B
Gene Information Card
| Symbol | IGSF9B |
|---|---|
| Full Name | Immunoglobulin Superfamily Member 9B |
| Gene Type | Protein coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 22997 ncbi.nlm.nih.gov/gene/22997 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9P2J2 |
| OMIM ID | 617458 |
| HGNC ID | 28870 |
| Aliases | KIAA1033, MGC138207, MGC138209 |
Description
IGSF9B (Immunoglobulin Superfamily Member 9B) is a protein-coding gene located on chromosome 11q25. It encodes a member of the immunoglobulin superfamily, characterized by multiple immunoglobulin-like domains. The protein is involved in cell adhesion and synaptic organization, particularly in the central nervous system. IGSF9B is expressed in brain tissues and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered synaptic adhesion and signaling | Limited evidence; association studies |
| Schizophrenia | Potential dysregulation of synaptic proteins | GWAS suggestive association |
| Autism spectrum disorder | Disrupted neuronal connectivity | Rare variant studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 10.2 | Medium |
| Testis | 3.1 | Low |
| Lung | 1.8 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg412* leads to premature truncation and likely loss of protein function.
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) | • plasma membrane (GO:0005886) |
| • synapse (GO:0045202) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
| • cell junction (GO:0030054) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (human)
• Neuroactive ligand-receptor interaction
Protein Summary
IGSF9B encodes a transmembrane protein with multiple immunoglobulin-like domains. It localizes to the plasma membrane and is involved in homophilic cell adhesion, particularly at synapses. The protein is essential for proper neuronal connectivity and synaptic organization. Its expression is enriched in brain tissues, and alterations have been linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGSF9B Knockout HEK293 Cell Line | EDJ-KQ7083 | Human | 22997 | Details Get a Quote |
| IGSF9B Knockout HCT 116 Cell Line | EDJ-KQ33240 | Human | 22997 | Details Get a Quote |
| IGSF9B Knockout HeLa Cell Line | EDJ-KQ55671 | Human | 22997 | Details Get a Quote |
| IGSF9B Knockout A-549 Cell Line | EDJ-KQ64169 | Human | 22997 | Details Get a Quote |
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