SEMA6D
Semaphorin 6D, a transmembrane semaphorin involved in immune regulation and neural development
Gene Information Card
| Symbol | SEMA6D |
|---|---|
| Full Name | semaphorin 6D |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 80031 ncbi.nlm.nih.gov/gene/80031 |
| Ensembl ID | ENSG00000137872 |
| UniProt ID | Q8NFY4 |
| OMIM ID | 609295 |
| HGNC ID | 16770 |
| Aliases | KIAA1479, SEMA6D1, SEMA6D2 |
Description
SEMA6D encodes a member of the semaphorin family of transmembrane proteins. Semaphorins are involved in axon guidance, immune cell regulation, and tumor progression. SEMA6D functions as a ligand for plexin receptors and modulates cell migration and adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered SEMA6D expression may promote tumor cell migration and invasion via plexin signaling | COSMIC; PubMed studies |
| Immune dysregulation | SEMA6D modulates T-cell and dendritic cell function through plexin-A4 interaction | PubMed; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Brain | 8.1 | Low |
| Heart | 6.4 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.0 | High expression |
| HEK293 (embryonic kidney) | 8.5 | Moderate expression |
| Jurkat (T-cell) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | missense | <0.1% | Unknown functional impact |
| c.567delA (p.Glu189fs) | frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu189fs) likely lead to truncated protein and loss of semaphorin function.
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)
| • semaphorin receptor binding | • cell adhesion |
| • axon guidance | • immune response |
Pathways
• Semaphorin interactions
• Axon guidance
• Plexin signaling
Protein Summary
SEMA6D is a transmembrane protein of approximately 110 kDa, containing an N-terminal sema domain, a PSI domain, and an immunoglobulin-like domain. It interacts with plexin-A4 to regulate cell migration, immune responses, and neural development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA6D Knockout HEK293 Cell Line | EDJ-KQ15223 | Human | 80031 | Details Get a Quote |
| SEMA6D Knockout Hep-G2 Cell Line | EDJ-KZ447 | Human | 80031 | Details Get a Quote |
| SEMA6D Knockout HeLa Cell Line | EDJ-KQ57281 | Human | 80031 | Details Get a Quote |
| SEMA6D Knockout A-549 Cell Line | EDJ-KQ65790 | Human | 80031 | Details Get a Quote |
| SEMA6D Knockout HCT 116 Cell Line | EDJ-KQ74212 | Human | 80031 | Details Get a Quote |
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