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 f... See more...

Aliases for LHFPL6 Gene

Aliases for LHFPL6 Gene

  • LHFPL Tetraspan Subfamily Member 6 2 3 5
  • Lipoma HMGIC Fusion Partner 2 3 4
  • LHFPL Tetraspan Subfamily Member 6 Protein 3 4
  • LHFP 3 4
  • MGC22429 2
  • LHFPL6 5

External Ids for LHFPL6 Gene

Previous HGNC Symbols for LHFPL6 Gene

  • LHFP

Previous GeneCards Identifiers for LHFPL6 Gene

  • GC13M039343

Summaries for LHFPL6 Gene

Entrez Gene Summary for LHFPL6 Gene

  • 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]

GeneCards Summary for LHFPL6 Gene

LHFPL6 (LHFPL Tetraspan Subfamily Member 6) is a Protein Coding gene. Diseases associated with LHFPL6 include Gliosarcoma and Infiltrating Lipoma. An important paralog of this gene is LHFPL1.

Gene Wiki entry for LHFPL6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LHFPL6 Gene

Genomics for LHFPL6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LHFPL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J039597 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +2.5 2495 6.7 CTCF PRDM10 ZNF692 BACH1 LARP7 PRDM1 ZIC2 PATZ1 RAD21 IKZF2 LOC112268119 LHFPL6 COG6 lnc-COG6-1 lnc-LHFPL6-4 MN309174-136 NHLRC3
GH13J039034 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.9 +565.8 565795 7.1 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 ZNF692 POLR2A ZNF7 PROSER1 NHLRC3 NONHSAG013280.2 lnc-STOML3-7 LHFPL6 STOML3
GH13J039483 Enhancer 0.9 FANTOM5 Ensembl ENCODE 11 +118.1 118127 4.4 CEBPB ZNF26 JUND TBX21 SMARCA4 BHLHE40 NHLRC3 LHFPL6 piR-57133-134 piR-31534-153 LOC112268119
GH13J039414 Enhancer 0.8 ENCODE CraniofacialAtlas 11.6 +188.3 188329 1.5 CTCF SP1 MNT SOX13 RELB NR2F2 RAD21 BCL6 JUN TBX21 LHFPL6 L13714-102 piR-42613-026 LOC112268119 NHLRC3
GH13J039516 Enhancer 0.8 Ensembl ENCODE 10.6 +87.8 87827 3.4 FOXA1 POLR2A ZBTB44 RAD21 ZSCAN5C OSR2 GATA3 RCOR1 JUND ZNF843 LHFPL6 LOC105370170 lnc-PROSER1-3 LOC112268119 NHLRC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LHFPL6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LHFPL6

Genomic Locations for LHFPL6 Gene

Genomic Locations for LHFPL6 Gene
chr13:39,209,116-39,603,528
(GRCh38/hg38)
Size:
394,413 bases
Orientation:
Minus strand
chr13:39,917,029-40,177,665
(GRCh37/hg19)
Size:
260,637 bases
Orientation:
Minus strand

Genomic View for LHFPL6 Gene

Genes around LHFPL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL6 Gene

Proteins for LHFPL6 Gene

  • Protein details for LHFPL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y693-LHPL6_HUMAN
    Recommended name:
    LHFPL tetraspan subfamily member 6 protein
    Protein Accession:
    Q9Y693
    Secondary Accessions:
    • B2R7M2
    • Q53FC0
    • Q96SH5

    Protein attributes for LHFPL6 Gene

    Size:
    200 amino acids
    Molecular mass:
    21598 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LHFPL6 Gene

Post-translational modifications for LHFPL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHFPL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL6 Gene

Domains & Families for LHFPL6 Gene

Gene Families for LHFPL6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for LHFPL6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LHFPL6 Gene

GenScript: Design optimal peptide antigens:
  • Lipoma HMGIC fusion partner (LHFP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y693

UniProtKB/Swiss-Prot:

LHPL6_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL6: view

Function for LHFPL6 Gene

Phenotypes From GWAS Catalog for LHFPL6 Gene

genes like me logo Genes that share phenotypes with LHFPL6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LHFPL6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHFPL6 Gene

Localization for LHFPL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL6 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LHFPL6 gene
Compartment Confidence
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LHFPL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LHFPL6: view

Pathways & Interactions for LHFPL6 Gene

PathCards logo

SuperPathways for LHFPL6 Gene

No Data Available

Interacting Proteins for LHFPL6 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 7)
STRING Interaction Network
Selected Interacting proteins: ENSP00000368908 Q9Y693-LHPL6_HUMAN for LHFPL6 Gene via STRING IID

Gene Ontology (GO) - Biological Process for LHFPL6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LHFPL6 Gene

Drugs & Compounds for LHFPL6 Gene

No Compound Related Data Available

Transcripts for LHFPL6 Gene

mRNA/cDNA for LHFPL6 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL6 Gene

No ASD Table

Relevant External Links for LHFPL6 Gene

GeneLoc Exon Structure for
LHFPL6

Expression for LHFPL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LHFPL6

mRNA Expression by UniProt/SwissProt for LHFPL6 Gene:

Q9Y693-LHPL6_HUMAN
Tissue specificity: Pancreas, kidney, skeletal muscle, liver, lung brain, heart, colon, small intestine, uterus, testis, prostate, thymus, spleen and placenta.

Evidence on tissue expression from TISSUES for LHFPL6 Gene

  • Nervous system(4.9)
  • Lung(4.3)
  • Muscle(2.2)
  • Heart(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with LHFPL6: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LHFPL6 Gene

Orthologs for LHFPL6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LHFPL6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LHFP 30 31
  • 99.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LHFP 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LHFP 30 31
  • 92.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LHFP 30 31
  • 90.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lhfp 30
  • 90 (n)
Mouse
(Mus musculus)
Mammalia Lhfp 30 17 31
  • 89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LHFP 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LHFP 30 31
  • 78.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LHFP 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lhfp 30
  • 74.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01040571.1 31
  • 81 (a)
ManyToMany
lhfp 30 31
  • 74.67 (n)
ManyToMany
Species where no ortholog for LHFPL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LHFPL6 Gene

ENSEMBL:
Gene Tree for LHFPL6 (if available)
TreeFam:
Gene Tree for LHFPL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LHFPL6: view image

Paralogs for LHFPL6 Gene

Paralogs for LHFPL6 Gene

genes like me logo Genes that share paralogs with LHFPL6: view

Variants for LHFPL6 Gene

Additional dbSNP identifiers (rs#s) for LHFPL6 Gene

Structural Variations from Database of Genomic Variants (DGV) for LHFPL6 Gene

Variant ID Type Subtype PubMed ID
dgv103e215 CNV deletion 23714750
dgv327e214 CNV loss 21293372
dgv51n73 CNV deletion 24416366
dgv8e197 CNV deletion 19546169
dgv957n106 CNV tandem duplication 24896259
dgv958n106 CNV deletion 24896259
dgv959n106 CNV deletion 24896259
esv1008099 CNV loss 20482838
esv1412441 CNV deletion 17803354
esv1482720 CNV insertion 17803354
esv2109685 CNV deletion 18987734
esv22501 CNV loss 19812545
esv2421708 CNV deletion 20811451
esv2428792 CNV deletion 19546169
esv25053 CNV gain+loss 19812545
esv2659643 CNV deletion 23128226
esv2663956 CNV deletion 23128226
esv2666799 CNV deletion 23128226
esv2677218 CNV deletion 23128226
esv2747287 CNV deletion 23290073
esv2747288 CNV deletion 23290073
esv2759933 CNV loss 17122850
esv2760292 CNV loss 21179565
esv2761784 CNV loss 21179565
esv3249274 CNV deletion 24192839
esv3550348 CNV deletion 23714750
esv3580612 CNV loss 25503493
esv3631831 CNV loss 21293372
esv3631832 CNV loss 21293372
esv3631835 CNV loss 21293372
esv4444 CNV loss 18987735
esv7050 CNV loss 19470904
esv988930 CNV deletion 20482838
esv995533 CNV loss 20482838
esv996813 CNV deletion 20482838
nsv1011 CNV deletion 18451855
nsv1036674 CNV loss 25217958
nsv1049669 CNV loss 25217958
nsv1050137 CNV gain 25217958
nsv1054600 CNV gain 25217958
nsv1069512 CNV deletion 25765185
nsv1069514 CNV deletion 25765185
nsv1122808 CNV deletion 24896259
nsv1134303 CNV deletion 24896259
nsv1150653 CNV insertion 26484159
nsv1152038 CNV deletion 26484159
nsv1152846 CNV deletion 26484159
nsv477207 CNV novel sequence insertion 20440878
nsv507693 OTHER sequence alteration 20534489
nsv511518 CNV loss 21212237
nsv512313 CNV loss 21212237
nsv517093 CNV loss 19592680
nsv523936 CNV loss 19592680
nsv561532 CNV loss 21841781
nsv561533 CNV gain+loss 21841781
nsv561534 CNV loss 21841781
nsv561535 CNV gain 21841781
nsv561536 CNV loss 21841781
nsv64358 CNV insertion 16902084
nsv64485 CNV deletion 16902084
nsv64628 CNV deletion 16902084
nsv818957 CNV loss 17921354
nsv820008 CNV loss 19587683
nsv820588 CNV deletion 20802225
nsv826624 CNV loss 20364138
nsv826625 CNV gain+loss 20364138
nsv958105 CNV deletion 24416366

Variation tolerance for LHFPL6 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LHFPL6 Gene

Human Gene Mutation Database (HGMD)
LHFPL6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHFPL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LHFPL6 Gene

Disorders for LHFPL6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LHFPL6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gliosarcoma
  • glioblastoma with sarcomatous component
infiltrating lipoma
  • intramuscular lipoma
pleomorphic lipoma
  • lipomatosis, multiple
lipomatosis, multiple
  • lipomatosis, familial multiple; fml
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LHPL6_HUMAN
  • Note=A chromosomal aberration involving LHFP is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(12;13)(q13-q15;q12) with HMGA2 is shown in lipomas. {ECO:0000269 PubMed:10329012}.
genes like me logo Genes that share disorders with LHFPL6: view

No data available for Genatlas for LHFPL6 Gene

Publications for LHFPL6 Gene

  1. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. (PMID: 10329012) Petit MM … Van de Ven WJ (Genomics 1999) 2 3 4 23
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. (PMID: 23551011) Zhao L … DeWan AT (Annals of human genetics 2013) 3
  5. Multiple loci influencing hippocampal degeneration identified by genome scan. (PMID: 22745009) Melville SA … Alzheimer's Disease Neuroimaging Initiative (Annals of neurology 2012) 3

Products for LHFPL6 Gene

Sources for LHFPL6 Gene