Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LHFPL6 Gene

Aliases for LHFPL6 Gene

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

External Ids for LHFPL6 Gene

Previous HGNC Symbols for LHFPL6 Gene

  • LHFP

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. An important paralog of this gene is LHFPL1.

Gene Wiki entry for LHFPL6 Gene

Additional gene information for LHFPL6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL6 Gene

Genomics for LHFPL6 Gene

Regulatory Elements for LHFPL6 Gene

Enhancers for LHFPL6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H039035 1.1 ENCODE 14.9 +565.2 565155 5 HDGF PKNOX1 FOXA2 ARNT SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 PROSER1 NHLRC3 LHFPL6 STOML3 LOC105370169
GH13H039414 0.9 Ensembl ENCODE 11.6 +188.3 188346 1 SOX13 CTCF JUN MNT EBF1 RAD21 NR2F2 IKZF1 BCL6 SPI1 LHFPL6 GC13P039396 LOC105370170
GH13H039416 0.8 Ensembl ENCODE 11.6 +186.0 185963 1 CTCF ZFHX2 JUN EGR2 LHFPL6 GC13P039396 LOC105370170
GH13H039506 0.8 Ensembl ENCODE 11.1 +96.4 96408 1 OSR2 SCRT1 POLR2A SCRT2 EBF1 ZNF24 MAFK LHFPL6 LOC105370170 GC13M039525
GH13H039483 0.7 FANTOM5 ENCODE 11 +119.7 119681 1 FOXP2 LHFPL6 LOC105370170 GC13P039396
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LHFPL6 on UCSC Golden Path with GeneCards custom track

Promoters for LHFPL6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061535 828 2601 PKNOX1 RB1 ZNF76 KLF17 FEZF1 ZNF2 RAD21 GLIS2 ZNF366 ZSCAN5C

Genomic Location for LHFPL6 Gene

Chromosome:
13
Start:
39,342,892 bp from pter
End:
39,603,528 bp from pter
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-LHFP_HUMAN
    Recommended name:
    Lipoma HMGIC fusion partner
    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):
  • Cancer-related genes
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for LHFPL6 Gene

Suggested Antigen Peptide Sequences for LHFPL6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y693

UniProtKB/Swiss-Prot:

LHFP_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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LHFPL6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LHFPL6: view

Pathways & Interactions for LHFPL6 Gene

SuperPathways for LHFPL6 Gene

No Data Available

Interacting Proteins for LHFPL6 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368908%0d%0a9606.ENSP00000355082%0d%0a9606.ENSP00000367151%0d%0a9606.ENSP00000268603%0d%0a9606.ENSP00000377862%0d%0a
Selected Interacting proteins: ENSP00000368908 Q9Y693-LHFP_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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LHFPL6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for LHFPL6 Gene

GeneLoc Exon Structure for
LHFPL6
ECgene alternative splicing isoforms for
LHFPL6

Expression for LHFPL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of LHFPL6 Gene:

LHFPL6

mRNA Expression by UniProt/SwissProt for LHFPL6 Gene:

Q9Y693-LHFP_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(4.8)
  • Lung(4.3)
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 33 34
  • 99.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LHFP 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LHFP 33 34
  • 92.17 (n)
cow
(Bos Taurus)
Mammalia LHFP 33 34
  • 90.59 (n)
rat
(Rattus norvegicus)
Mammalia Lhfp 33
  • 90 (n)
mouse
(Mus musculus)
Mammalia Lhfp 33 16 34
  • 89 (n)
oppossum
(Monodelphis domestica)
Mammalia LHFP 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves LHFP 33 34
  • 78.67 (n)
lizard
(Anolis carolinensis)
Reptilia LHFP 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfp 33
  • 74.17 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01040571.1 34
  • 81 (a)
ManyToMany
lhfp 33 34
  • 74.67 (n)
Species where no ortholog for LHFPL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for LHFPL6 Gene

Paralogs for LHFPL6 Gene

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

Variants for LHFPL6 Gene

Sequence variations from dbSNP and Humsavar for LHFPL6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000014473 -- 39,550,763(+) AGTTA(A/G)CAATG intron-variant
rs1000026706 -- 39,546,212(+) GATGA(C/T)CTAGC intron-variant
rs1000064772 -- 39,438,789(+) TTCCA(A/T)ATGGT intron-variant
rs1000070060 -- 39,381,050(+) TAATG(A/T)GCTTG intron-variant
rs1000072351 -- 39,402,795(+) AGAAT(A/G)GCATA intron-variant

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)

Relevant External Links for LHFPL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHFPL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL6 Gene

Disorders for LHFPL6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gliosarcoma
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LHFP_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}.

Relevant External Links for LHFPL6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL6
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 22 60
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 60
  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 60
  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 60
  5. Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma. (PMID: 22538188) Nagaishi M … Ohgaki H (The American journal of pathology 2012) 3 60

Products for LHFPL6 Gene

Sources for LHFPL6 Gene

Content
Loading form....