LHX3 Gene - LIM Homeobox 3
Key regulator of pituitary development and motor neuron specification
Gene Information Card
| Symbol | LHX3 |
|---|---|
| Full Name | LIM homeobox 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 8022 ncbi.nlm.nih.gov/gene/8022 |
| Ensembl ID | ENSG00000107485 |
| UniProt ID | Q9UBR4 |
| OMIM ID | 600577 |
| HGNC ID | 6594 |
| Aliases | LIM3, M2, CPHD3 |
Description
LHX3 encodes a LIM-homeodomain transcription factor essential for pituitary gland development and motor neuron specification. It regulates cell proliferation and differentiation in the anterior pituitary and spinal cord. Mutations cause combined pituitary hormone deficiency (CPHD3) with or without neck rigidity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Pituitary Hormone Deficiency 3 (CPHD3) | Loss-of-function mutations impair LHX3 DNA binding, disrupting pituitary transcription factor cascade, leading to deficiency of GH, TSH, LH, FSH, and prolactin. | ClinVar, OMIM |
| Pituitary Stalk Interruption Syndrome | LHX3 variants may contribute to abnormal pituitary stalk development, though evidence is limited. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | 12.5 | High |
| Spinal Cord | 8.3 | Medium |
| Brain (Cerebellum) | 4.1 | Low |
| Testis | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-N-SH (neuroblastoma) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 10.8 | Moderate expression |
| HeLa (cervical carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.455G>A (p.Trp152*) | Nonsense | Rare | Premature stop, loss of function |
| c.601C>T (p.Arg201Cys) | Missense | Rare | Impaired DNA binding, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most LHX3 mutations are loss-of-function, reducing or abolishing transcriptional activity, leading to CPHD3.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; LHX3 acts as a monomer, and recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pituitary development and transcription factor cascade (R-HSA-5617472)
• Developmental biology (R-HSA-1266738)
Protein Summary
LHX3 is a 402-amino acid protein containing two LIM domains and a homeodomain. It binds DNA as a monomer to regulate target genes involved in pituitary cell lineage specification and motor neuron development. The protein localizes to the nucleus and interacts with other transcription factors such as POU1F1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHX3 Knockout HEK293 Cell Line | EDJ-KQ6159 | Human | 8022 | Details Get a Quote |
| LHX3 Knockout HeLa Cell Line | EDJ-KQ54814 | Human | 8022 | Details Get a Quote |
| LHX3 Knockout A-549 Cell Line | EDJ-KQ63303 | Human | 8022 | Details Get a Quote |
| LHX3 Knockout HCT 116 Cell Line | EDJ-KQ71774 | Human | 8022 | Details Get a Quote |
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