LHX9: LIM Homeobox 9 Transcription Factor
Key regulator of urogenital and nervous system development
Gene Information Card
| Symbol | LHX9 |
|---|---|
| Full Name | LIM homeobox 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 56955 ncbi.nlm.nih.gov/gene/56955 |
| Ensembl ID | ENSG00000143322 |
| UniProt ID | Q9NQ63 |
| OMIM ID | 606066 |
| HGNC ID | 14220 |
| Aliases | FLJ12735, MGC138290 |
Description
LHX9 encodes a member of the LIM homeobox family of transcription factors, characterized by two LIM domains and a homeodomain. It plays essential roles in urogenital development, particularly in gonadal and kidney formation, as well as in the development of the central nervous system. LHX9 regulates cell fate specification and differentiation during embryogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 46,XY gonadal dysgenesis | Loss-of-function mutations impair testis development | PMID: 18674748 |
| Müllerian aplasia | Possible role in uterine development | PMID: 24657011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Kidney | 5.1 | Low |
| Brain | 3.4 | Low |
| Ovary | 2.8 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NT2/D1 (embryonal carcinoma) | 12.5 | Neuronal differentiation model |
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.601C>T (p.Arg201*) | Nonsense | Rare | Loss of function; truncation of homeodomain |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Likely loss of function; altered DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in LHX9 lead to loss of transcriptional activity, associated with gonadal dysgenesis.
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)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by LHX9 (inferred)
Protein Summary
LHX9 is a 397-amino acid transcription factor containing two N-terminal LIM zinc-binding domains and a C-terminal homeodomain. It binds DNA as a monomer or heterodimer and regulates genes involved in cell fate determination. The protein is predominantly nuclear and expressed in developing gonads, kidney, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHX9 Knockout HEK293 Cell Line | EDJ-KQ14071 | Human | 56956 | Details Get a Quote |
| LHX9 Knockout HeLa Cell Line | EDJ-KQ43979 | Human | 56956 | Details Get a Quote |
| LHX9 Knockout A-549 Cell Line | EDJ-KQ65280 | Human | 56956 | Details Get a Quote |
| LHX9 Knockout HCT 116 Cell Line | EDJ-KQ73724 | Human | 56956 | Details Get a Quote |
