SP9 Transcription Factor
SP9 Gene Overview: Function, Expression, and Disease Associations
Gene Information Card
| Symbol | SP9 |
|---|---|
| Full Name | Sp9 transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 100131436 ncbi.nlm.nih.gov/gene/100131436 |
| Ensembl ID | ENSG00000204619 |
| UniProt ID | P0CG38 |
| OMIM ID | 616997 |
| HGNC ID | 30648 |
| Aliases | bA356B19.6, Sp9 |
Description
The SP9 gene encodes the Sp9 transcription factor, a member of the Sp/KLF family of zinc finger proteins. It is involved in the regulation of gene expression during development, particularly in the nervous system and limbs. SP9 plays a role in neuronal differentiation and migration, and its dysregulation has been implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Overexpression of SP9 may promote tumor growth and metastasis through transcriptional activation of oncogenic pathways. | COSMIC, PubMed |
| Colorectal cancer | SP9 expression is altered in colorectal tumors; potential role in cell proliferation. | COSMIC, PubMed |
| Neurodevelopmental disorders | SP9 mutations or dysregulation may affect neuronal migration and differentiation. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Colon | 2.1 | Not detected |
| Testis | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 4.1 | Moderate expression |
| HCT116 (colorectal cancer) | 2.3 | Low expression |
| SH-SY5Y (neuroblastoma) | 6.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | 0.01% | Unknown functional effect |
| c.112C>T (p.Arg38Trp) | Missense | 0.005% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sp/KLF transcription factor family pathway
• Neuronal migration and differentiation pathway
Protein Summary
The Sp9 transcription factor is a 423-amino acid protein containing three C2H2-type zinc finger domains that mediate sequence-specific DNA binding. It is predominantly expressed in the developing nervous system and limbs, where it regulates genes involved in neuronal migration and differentiation. SP9 shares structural homology with other Sp/KLF family members and can act as both an activator and repressor of transcription depending on cellular context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP9 Knockout HEK293 Cell Line | EDJ-KQ15420 | Human | 100131390 | Details Get a Quote |
| SP9 Knockout A-549 Cell Line | EDJ-KQ47093 | Human | 100131390 | Details Get a Quote |
| SP9 Knockout HeLa Cell Line | EDJ-KQ60823 | Human | 100131390 | Details Get a Quote |
| SP9 Knockout HCT 116 Cell Line | EDJ-KQ77647 | Human | 100131390 | Details Get a Quote |
