LHFPL6 Gene

Name LHFPL tetraspan subfamily member 6
Description This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n LHFPL6 (Lipoma HMGIC Fusion Partner‐Like 6) has been implicated in several distinct biological processes and diseases. Genome‐wide association studies have identified variants in the chromosome region harboring LHFPL6 that are associated not only with inflammatory conditions such as psoriasis and psoriatic arthritis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "but also with quantitative traits like bone mineral density. In a functional dissection of bone biology, LHFPL6 was found to be highly expressed in bone and osteoblasts, and its expression was modulated by a local regulatory variant. Loss‐of‐function experiments in mice revealed that disruption of LHFPL6 led to enhanced osteogenic differentiation of bone marrow stromal cells and increased cortical bone mass, indicating that LHFPL6 normally acts to restrain osteoblast activity and bone formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of mesenchymal tumors, recurrent chromosomal rearrangements generating fusion transcripts between HMGA2 and LHFP have been observed in lipomas. These fusion events suggest that mis‐regulation of LHFPL6 may contribute to benign tumorigenesis by perturbing normal transcriptional control during adipocyte or mesenchymal differentiation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, overexpression of LHFPL6 in gastric cancer has been correlated with poor clinical outcome and appears to promote epithelial–mesenchymal transition, potentially by enhancing immunosuppressive M2 macrophage infiltration in the tumor microenvironment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Collectively, these findings highlight a multifaceted role for LHFPL6 in modulating tissue differentiation, skeletal homeostasis, and tumor progression, and they point to its potential utility as both a biomarker and a therapeutic target in diverse clinical settings.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ying Liu, Cynthia Helms, Wilson Liao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1000041"}], "href": "https://doi.org/10.1371/journal.pgen.1000041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18369459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18369459"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Larry D Mesner, Gina M Calabrese, Basel Al-Barghouthi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mouse genome-wide association and systems genetics identifies Lhfp as a regulator of bone mass."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1008123"}], "href": "https://doi.org/10.1371/journal.pgen.1008123"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31042701"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31042701"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "M Nilsson, F Mertens, M Höglund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Truncation and fusion of HMGA2 in lipomas with rearrangements of 5q32-->q33 and 12q14-->q15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cytogenet Genome Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000087514"}], "href": "https://doi.org/10.1159/000087514"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16276091"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16276091"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yuan-Jie Liu, Sheng-Yan Yin, Shu-Hong Zeng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prognostic Value of LHFPL Tetraspan Subfamily Member 6 "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "(LHFPL6)"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " in Gastric Cancer: A Study Based on Bioinformatics Analysis and Experimental Validation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmgenomics Pers Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2147/PGPM.S332345"}], "href": "https://doi.org/10.2147/PGPM.S332345"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34848995"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34848995"}]}]}]}
NCBI Gene ID 10186
API
Download Associations
Predicted Functions View LHFPL6's ARCHS4 Predicted Functions.
Co-expressed Genes View LHFPL6's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View LHFPL6's ARCHS4 Predicted Functions.

Functional Associations

LHFPL6 has 1,768 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 26 datasets.

Click the + buttons to view associations for LHFPL6 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of LHFPL6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of LHFPL6 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CellMarker Gene-Cell Type Associations cell types associated with LHFPL6 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of LHFPL6 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing LHFPL6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with LHFPL6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with LHFPL6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with LHFPL6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of LHFPL6 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of LHFPL6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of LHFPL6 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with LHFPL6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by LHFPL6 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of LHFPL6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of LHFPL6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of LHFPL6 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of LHFPL6 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of LHFPL6 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of LHFPL6 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of LHFPL6 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of LHFPL6 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of LHFPL6 gene from the RummaGEO Gene Perturbation Signatures dataset.
Tahoe Therapeutics Tahoe 100M Perturbation Atlas drug perturbations changing expression of LHFPL6 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of LHFPL6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of LHFPL6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with LHFPL6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.