LBHD2: A Little Known Gene with Potential Roles in Cellular Processes
Comprehensive genomic and proteomic overview of LBHD2, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | LBHD2 |
|---|---|
| Full Name | LBH domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 284352 ncbi.nlm.nih.gov/gene/284352 |
| Ensembl ID | ENSG00000187957 |
| UniProt ID | Q8N7X0 |
| OMIM ID | - |
| HGNC ID | 33710 |
| Aliases | MGC35130, FLJ32743 |
Description
LBHD2 (LBH domain containing 2) is a protein-coding gene located on chromosome 11q13.1. The gene encodes a protein of unknown function that contains an LBH (limb-bud and heart) domain. LBHD2 is evolutionarily conserved and is expressed in a variety of tissues, but its specific biological roles remain to be fully elucidated. Current evidence suggests potential involvement in developmental processes and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.8 | Low |
| Prostate | 3.1 | Low |
| Adrenal gland | 2.9 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.1 | Moderate expression |
| HeLa | 2.3 | Low expression |
| K562 | 1.8 | Low expression |
| A549 | 1.2 | Not detected |
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 | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for LBHD2.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations are known.
View complete mutation data：
Protein Summary
The LBHD2 protein (UniProt Q8N7X0) is 152 amino acids long and contains a single LBH domain. Its molecular function and cellular role are not yet characterized. No three-dimensional structure has been determined, and no protein-protein interactions have been validated. The protein is predicted to be localized in the nucleus based on sequence features.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LBHD2 Knockout HEK293 Cell Line | EDJ-KQ14030 | Human | 107984640 | Details Get a Quote |
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