Gene Summary

Gene:LHFPL6; LHFPL tetraspan subfamily member 6
Aliases: LHFP
Summary: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]
Databases:OMIM, HGNC, Ensembl, GeneCard, Gene
Protein:LHFPL tetraspan subfamily member 6 protein
Source:NCBIAccessed: 31 August, 2019


What does this gene/protein do?
LHFPL6 is implicated in:
- DNA binding
- integral to membrane
Data from Gene Ontology via CGAP

Cancer Overview

Research Indicators

Publications Per Year (1994-2019)
Graph generated 31 August 2019 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Allelic Imbalance
  • LIM Domain Proteins
  • Chromosome 9
  • Genes, Neoplasm
  • Amino Acid Sequence
  • Extracellular Matrix Proteins
  • Soft Tissue Cancers
  • Transcriptional Activation
  • Chromosome 12
  • Mesenchymal Stem Cells
  • Gliosarcoma
  • Translocation
  • Gene Fusion
  • Angiolipoma
  • Oncogene Fusion Proteins
  • Neoplasm Proteins
  • Chromosome 5
  • Karyotyping
  • Hamartoma
  • DNA, Complementary
  • Gene Rearrangement
  • Membrane Proteins
  • DNA Primers
  • Cancer DNA
  • Lung Cancer
  • Cell Differentiation
  • Chromosome Deletion
  • FREM2
  • Cytoskeletal Proteins
  • Chromosome 13
  • CGH
  • Base Sequence
  • Genome-Wide Association Study
  • STOML3
  • Chromosomes, Artificial, Yeast
  • Chromosome Aberrations
  • HMGA2
  • Lipoma
Tag cloud generated 31 August, 2019 using data from PubMed, MeSH and CancerIndex

Latest Publications: LHFP (cancer-related)

Nagaishi M, Kim YH, Mittelbronn M, et al.
Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.
Am J Pathol. 2012; 180(5):1816-23 [PubMed] Related Publications
Gliosarcoma is a rare glioblastoma variant characterized by a biphasic tissue pattern with alternating areas that display either glial (glial fibrillary acidic protein-positive) or mesenchymal (reticulin-positive) differentiation. Previous analyses have shown identical genetic alterations in glial and mesenchymal tumor areas, suggesting that gliosarcomas are genetically monoclonal, and mesenchymal differentiation was considered to reflect the elevated genomic instability of glioblastomas. In the present study, we compared genome-wide chromosomal imbalances using array comparative genomic hybridization in glial and mesenchymal tumor areas of 13 gliosarcomas. The patterns of gain and loss were similar, except that the gain at 13q13.3-q14.1 (log(2) ratio >3.0), containing the STOML3, FREM2, and LHFP genes, which was restricted to the mesenchymal tumor area of a gliosarcoma. Further analyses of 64 cases of gliosarcoma using quantitative PCR showed amplification of the STOML3, FREM2, and LHFP genes in 14 (22%), 10 (16%), and 7 (11%) mesenchymal tumor areas, respectively, but not in glial tumor areas. Results of IHC analysis confirmed that overexpression of STOML3 and FREM2 was more extensive in mesenchymal than in glial tumor areas. These results suggest that the mesenchymal components in a small fraction of gliosarcomas may be derived from glial cells with additional genetic alterations.

Nilsson M, Mertens F, Höglund M, et al.
Truncation and fusion of HMGA2 in lipomas with rearrangements of 5q32-->q33 and 12q14-->q15.
Cytogenet Genome Res. 2006; 112(1-2):60-6 [PubMed] Related Publications
Chromosome segment 12q13-->q15 recombines with many different chromosome bands in lipomas and at least ten recurrent translocations have been identified. The HMGA2 gene is often rearranged, but little is known about the molecular consequences at other breakpoints. Fusion genes between HMGA2 (12q14-->q15) and LPP (3q27-->q28), LHFP (13q12) and CMKOR1 (2q37) have been reported. In the present study, eight lipomas with rearrangements involving chromosome bands 12q14-->q15 and 5q32-->q33 were analyzed. In chromosome 5, five of the cases had a breakpoint in the 5' part of EBF in 5q33, while three cases had breakpoints located about 200 kb 3' of EBF. In chromosome 12, the breakpoints clustered to the region of HMGA2. Four cases had breaks within the gene and four had breaks 5' to HMGA2 where the gene BC058822 is located. Two versions of an HMGA2/EBF fusion transcript were detected in one case; one transcript was in frame and the other out of frame. Identical EBF/BC058822 fusion transcripts, seen in two cases, one of which also had the HMGA2/EBF transcript, were out of frame and resulted in truncation of EBF. Since EBF and HMGA2 have different orientations, the findings must be explained by complex aberrations including multiple breaks. The combined data indicate that the pathogenetically significant event is fusion, truncation or transcriptional activation of HMGA2, but it can not be excluded that EBF, which has been implicated in adipogenesis, contributes to the tumor development.

Nilsson M, Panagopoulos I, Mertens F, Mandahl N
Fusion of the HMGA2 and NFIB genes in lipoma.
Virchows Arch. 2005; 447(5):855-8 [PubMed] Related Publications
The major cytogenetic subgroup of lipomas is characterized by aberrations of chromosome segment 12q13-15, which recombines with a large number of other chromosomal regions. The gene HMGA2 is the main target in these aberrations. For some recurrent rearrangements, chimeric transcripts, including the 5' part of HMGA2, have been described. The 3' partners identified are LPP, LHFP, CMKOR1, and EBF. In addition, subsets of other benign solid tumors show aberrations of 12q13-15. Among pleomorphic adenomas of the salivary glands, where the preferred recombination partner with 12q13-15 is 9p22-24, an HMGA2/NFIB fusion gene has been reported. In the present study, two cases of lipoma with rearrangements of 9p22-24 and 12q15 were analyzed by reverse transcription polymerase chain reaction to find out if HMGA2/NFIB was also present in lipoma. An in-frame fusion transcript, combining the four first exons of HMGA2 with exon 8 of NFIB, was detected in one case. It was identical to a transcript that was previously described in salivary gland adenoma and contained a stop codon shortly 3' of the fusion point. The finding of the same fusion gene in different tumors is not unique. For example, HMGA2/LPP has been reported in lipoma, pulmonary chondroid hamartoma, and soft tissue chondroma. Since similar 9;12 translocations have been described also in rare cases of hamartoma and uterine leiomyoma, the occurrence of HMGA2/NFIB could be postulated in these tumors as well.

Dahlén A, Debiec-Rychter M, Pedeutour F, et al.
Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors.
Int J Cancer. 2003; 103(5):616-23 [PubMed] Related Publications
Deletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low-malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, 15 spindle cell/pleomorphic lipomas, 2 myxolipomas, 1 angiomyxolipoma and 9 atypical lipomatous tumors) with chromosome 13-abnormalities, and found bands 13q12-22 to be frequently affected. Twenty-seven cases with structural abnormalities within this region were selected for breakpoint and deletion mapping by metaphase fluorescence in situ hybridization (FISH), using a set of 20 probes. Deletions were found in 23 of 27 cases. The remaining 4 cases had seemingly balanced rearrangements. The breakpoints were scattered but clustered to band 13q14, and in all cases with unbalanced abnormalities, a limited region within band 13q14 was partially or completely deleted. A deletion within band 13q14 was found together with a breakpoint on the other homologue in 5 cases, 4 of which could be tested further with regard to the status of the retinoblastoma (RB1)-gene. In all 4 cases, only 1 copy of the gene was deleted. In addition to the breaks and deletions in the vicinity of the RB1-locus, several other regions of 13q were recurrently affected, e.g., in the vicinity of the hereditary breast cancer (BRCA2; 13q12)- and lipoma HMGIC fusion partner (LHFP; 13q13)- genes. Our findings strongly indicate that deletion of a limited region (approximately 2.5 Mbp) within 13q14, distal to the RB1-locus, is of importance in the development of a subset of lipomatous tumors.

Rogalla P, Lemke I, Bullerdiek J
Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13 through 15 and 13q12 through q14.
Cancer Genet Cytogenet. 2002; 133(1):90-3 [PubMed] Related Publications
In a variety of benign solid human tumors the high mobility group protein gene HMGIC is affected by aberrations involving the chromosomal region 12q14 through q15. Beside the two predominant alterations t(3;12) (q27 through 28;q14 through q15) and t(12;14)(q14 through q15;q23 through q24), the t(12;13)(q14 through q15;q12 through q14) is another aberration observed recurrently in these tumors. Very recently, an HMGIC-LHFP (lipoma HMGIC fusion partner) fusion gene has been detected in a lipoma with a t(12;13). The results of the present study demonstrated the absence of the HMGIC-LHFP fusion in three pulmonary chondroid hamartomas (PCH) with complex aberrations involving chromosomal regions 12q13 through q15 and 13q12q through q14 and one PCH with a simple t(12;13)(q14 through 15;q13) by reverse transcription-polymerase chain reaction. Thus, intragenic rearrangements within the LHFP gene leading to its fusion to HMGIC are not a consistent finding in mesenchymal tumors with clonal aberrations of both chromosomal regions 12q13 through q15 and 13q12 through q14.

Petit MM, Schoenmakers EF, Huysmans C, et al.
LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes.
Genomics. 1999; 57(3):438-41 [PubMed] Related Publications
A major cytogenetic subgroup among human lipomas is characterized by translocations involving the HMGIC gene at 12q15. In the context of an ongoing research program aiming at the elucidation of the functional consequences of HMGIC translocations in the etiology of lipomas, we have isolated a novel human gene, LHFP (lipoma HMGIC fusion partner), that acts as a translocation partner of HMGIC in a lipoma with t(12;13). The LHFP gene was mapped to the long arm of chromosome 13, a region recurrently targeted by chromosomal aberrations in lipomas. By Northern blot analysis, a transcript of 2. 4 kb was detected in a variety of human tissues. We assembled a cDNA contig containing the entire coding region of LHFP. Nucleotide sequence analysis of the composite LHFP cDNA revealed an open reading frame encoding a protein of 200 amino acids. The predicted human LHFP protein is almost identical to a translated mouse EST that covers almost the entire LHFP coding region. In addition, BLAST searches revealed that the LHFP protein belongs to a new protein family consisting of at least four or five members. In the lipoma studied, the expressed HMGIC/LHFP fusion transcript encodes the three DNA binding domains of HMGIC followed by 69 amino acids encoded by frame-shifted LHFP sequences. LHFP is the second translocation partner of HMGIC identified in lipomas and represents a candidate target gene for lipomas with 13q aberrations.

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Cite this page: Cotterill SJ. LHFP, Cancer Genetics Web: http://www.cancer-genetics.org/LHFP.htm Accessed:

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