LHX4 Gene: LIM Homeobox 4
Key regulator of pituitary development and associated with combined pituitary hormone deficiency
Gene Information Card
| Symbol | LHX4 |
|---|---|
| Full Name | LIM homeobox 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 89884 ncbi.nlm.nih.gov/gene/89884 |
| Ensembl ID | ENSG00000121454 |
| UniProt ID | Q9H2W2 |
| OMIM ID | 602146 |
| HGNC ID | 21734 |
| Aliases | CPHD4, LIM4, hLIM-4 |
Description
The LHX4 gene encodes a member of the LIM homeobox family of transcription factors, characterized by two LIM domains and a homeodomain. This protein is essential for the development of the pituitary gland and motor neurons. Mutations in LHX4 are associated with combined pituitary hormone deficiency type 4 (CPHD4), a disorder characterized by deficiencies of multiple pituitary hormones, leading to growth retardation and other endocrine abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Pituitary Hormone Deficiency Type 4 (CPHD4) | Loss-of-function mutations in LHX4 disrupt pituitary gland development, leading to deficiencies in growth hormone, thyroid-stimulating hormone, and other pituitary hormones. | ClinVar, OMIM |
| Pituitary Stalk Interruption Syndrome | LHX4 mutations have been implicated in cases of pituitary stalk interruption, affecting the connection between the hypothalamus and pituitary. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 4.1 | Low |
| Thyroid | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| SH-SY5Y | 9.8 | Neuroblastoma cells |
| HeLa | 3.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.467G>A (p.Arg156His) | Missense | Rare | Loss of DNA-binding ability, associated with CPHD4 |
| c.601C>T (p.Arg201*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most LHX4 mutations are loss-of-function, leading to haploinsufficiency or dominant-negative effects that impair pituitary development.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LHX4.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type LHX4 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pituitary gland development (Reactome: R-HSA-5617472)
• Transcriptional regulation by LHX factors (Reactome: R-HSA-5617472)
Protein Summary
The LHX4 protein is a 390-amino acid transcription factor containing two N-terminal LIM domains (zinc-binding motifs) and a C-terminal homeodomain. It binds DNA via the homeodomain and regulates gene expression critical for pituitary organogenesis and motor neuron differentiation. The protein is predominantly nuclear and interacts with other transcription factors such as POU1F1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHX4 Knockout HEK293 Cell Line | EDJ-KQ10531 | Human | 89884 | Details Get a Quote |
| LHX4 Knockout A-549 Cell Line | EDJ-KQ37953 | Human | 89884 | Details Get a Quote |
| LHX4 Knockout HCT 116 Cell Line | EDJ-KQ37954 | Human | 89884 | Details Get a Quote |
| LHX4 Knockout HeLa Cell Line | EDJ-KQ37955 | Human | 89884 | Details Get a Quote |
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