LBH Gene - Limb Bud and Heart Development
Comprehensive genomic and functional analysis of the LBH gene
Gene Information Card
| Symbol | LBH |
|---|---|
| Full Name | Limb bud and heart development |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 81606 ncbi.nlm.nih.gov/gene/81606 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q53QV2 |
| OMIM ID | 611763 |
| HGNC ID | 29593 |
| Aliases | MGC14156, limb-bud and heart gene homolog |
Description
LBH (limb bud and heart development) is a protein-coding gene that encodes a transcription cofactor involved in embryonic development, particularly in limb bud and heart morphogenesis. The protein is a member of the LBH family and acts as a transcriptional regulator, modulating Wnt signaling and other developmental pathways. LBH is expressed in various tissues and has been implicated in congenital heart disease and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease | LBH mutations disrupt heart development pathways | PMID: 23453667 |
| Breast cancer | LBH overexpression promotes tumor growth and metastasis | PMID: 25605247 |
| Colorectal cancer | LBH upregulation associated with poor prognosis | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 10.1 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| HCT116 (colorectal cancer) | 14.2 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
| H9c2 (heart myoblast) | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in LBH are predicted to cause loss of function, potentially impairing heart and limb development.
Gain of Function (GOF)
No gain-of-function mutations have been reported in LBH.
Dominant Negative (DN)
No dominant-negative mutations have been described for LBH.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • transcription coregulator activity (GO:0003712) |
| • multicellular organism development (GO:0007275) | • heart development (GO:0007507) |
| • embryonic limb morphogenesis (GO:0030326) |
Pathways
• Wnt signaling pathway
• Developmental biology
Protein Summary
The LBH protein is a 131-amino acid transcription cofactor localized to the nucleus. It contains a conserved nuclear localization signal and interacts with TCF/LEF transcription factors to modulate Wnt/β-catenin signaling. LBH is essential for proper limb bud and heart development, and its dysregulation is linked to congenital heart defects and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LBH Knockout HEK293 Cell Line | EDJ-KQ9723 | Human | 81606 | Details Get a Quote |
| LBHD2 Knockout HEK293 Cell Line | EDJ-KQ14030 | Human | 107984640 | Details Get a Quote |
| LBH Knockout A-549 Cell Line | EDJ-KQ35304 | Human | 81606 | Details Get a Quote |
| LBH Knockout HeLa Cell Line | EDJ-KQ36537 | Human | 81606 | Details Get a Quote |
| LBHD1 Knockout HEK293 Cell Line | EDJ-KQ51664 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout HeLa Cell Line | EDJ-KQ57143 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout A-549 Cell Line | EDJ-KQ65656 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout HCT 116 Cell Line | EDJ-KQ74080 | Human | 79081 | Details Get a Quote |
| LBH Knockout HCT 116 Cell Line | EDJ-KQ74330 | Human | 81606 | Details Get a Quote |
Displaying Records 1 To 9 Of 9 Records
