LHX2 Gene - LIM Homeobox 2
Key regulator of forebrain development, eye formation, and hematopoiesis
Gene Information Card
| Symbol | LHX2 |
|---|---|
| Full Name | LIM homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 9355 ncbi.nlm.nih.gov/gene/9355 |
| Ensembl ID | ENSG00000106689 |
| UniProt ID | P50458 |
| OMIM ID | 603759 |
| HGNC ID | 6594 |
| Aliases | LH2, hLhx2, LIM2 |
Description
LHX2 encodes a member of the LIM-homeodomain family of transcription factors. It plays critical roles in embryonic development, particularly in forebrain patterning, eye formation, and hematopoiesis. The protein contains two LIM domains and a homeobox DNA-binding domain, regulating target gene expression during organogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microphthalmia, isolated, with coloboma | Loss-of-function mutations in LHX2 disrupt eye development, leading to reduced eye size and coloboma. | ClinVar; PMID: 24635570 |
| Intellectual disability, autosomal dominant | De novo missense variants in LHX2 impair forebrain development, associated with cognitive impairment. | ClinVar; PMID: 31036916 |
| Pituitary stalk interruption syndrome | LHX2 mutations affect pituitary development, leading to hormone deficiencies. | OMIM; PMID: 23541340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Eye | 8.3 | Medium |
| Pituitary gland | 6.1 | Low |
| Liver | 2.0 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 0.8 | Low expression |
| K562 (leukemia) | 3.4 | Hematopoietic model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Trp) | Missense | Rare | Loss of DNA-binding activity; associated with intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; associated with microphthalmia |
| c.742_743del (p.Leu248fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported LHX2 mutations are loss-of-function, leading to haploinsufficiency in developmental disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported in LHX2.
Dominant Negative (DN)
Some missense variants may act via dominant-negative mechanism by interfering with wild-type LHX2 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Forebrain development (KEGG: hsa05414)
Protein Summary
LHX2 is a 406-amino acid transcription factor with two N-terminal LIM domains (zinc-binding) and a C-terminal homeodomain. It binds DNA as a monomer or heterodimer, regulating genes involved in cell proliferation and differentiation. The protein is predominantly nuclear and expressed in developing neural and ocular tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHX2 Knockout HEK293 Cell Line | EDJ-KQ6556 | Human | 9355 | Details Get a Quote |
| LHX2 Knockout A-549 Cell Line | EDJ-KQ30756 | Human | 9355 | Details Get a Quote |
| LHX2 Knockout HCT 116 Cell Line | EDJ-KQ30757 | Human | 9355 | Details Get a Quote |
| LHX2 Knockout HeLa Cell Line | EDJ-KQ30758 | Human | 9355 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
