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Aliases for LHFPL3 Gene

Aliases for LHFPL3 Gene

  • Lipoma HMGIC Fusion Partner-Like 3 2 3 5
  • Lipoma HMGIC Fusion Partner-Like 4 2 3
  • LHFPL4 3 4
  • Lipoma HMGIC Fusion Partner-Like 3 Protein 3
  • LHFP-Like Protein 3 3

External Ids for LHFPL3 Gene

Previous HGNC Symbols for LHFPL3 Gene

  • LHFPL4

Previous GeneCards Identifiers for LHFPL3 Gene

  • GC00U990471
  • GC07P103529
  • GC07P103563
  • GC07P103756
  • GC07P103969
  • GC07P098328

Summaries for LHFPL3 Gene

Entrez Gene Summary for LHFPL3 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. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for LHFPL3 Gene

LHFPL3 (Lipoma HMGIC Fusion Partner-Like 3) is a Protein Coding gene. Diseases associated with LHFPL3 include Lipoma and Deafness, Autosomal Recessive 53. An important paralog of this gene is LHFPL4.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL3 Gene

Genomics for LHFPL3 Gene

Regulatory Elements for LHFPL3 Gene

Enhancers for LHFPL3 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
GH07G104772 0.6 ENCODE 9.8 +444.1 444052 1.2 CTCF TEAD4 MAX CHD7 EP300 POLR2A BCL11A HDAC2 CTBP2 KDM1A LHFPL3-AS1 LHFPL3 LOC105375436
GH07G104362 0.5 ENCODE 11.3 +34.2 34208 0.8 CEBPB ZBTB33 CEBPG LHFPL3 EIF4BP6
GH07G104468 0.2 ENCODE 0.1 +140.9 140903 1.4 RELN LHFPL3 EIF4BP6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LHFPL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for LHFPL3 Gene

Chromosome:
7
Start:
104,328,656 bp from pter
End:
104,908,558 bp from pter
Size:
579,903 bases
Orientation:
Plus strand

Genomic View for LHFPL3 Gene

Genes around LHFPL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL3 Gene

Proteins for LHFPL3 Gene

  • Protein details for LHFPL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UP9-LHPL3_HUMAN
    Recommended name:
    Lipoma HMGIC fusion partner-like 3 protein
    Protein Accession:
    Q86UP9
    Secondary Accessions:
    • A1L383
    • A4D0Q5

    Protein attributes for LHFPL3 Gene

    Size:
    236 amino acids
    Molecular mass:
    25769 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LHFPL3 Gene

Post-translational modifications for LHFPL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHFPL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL3 Gene

Domains & Families for LHFPL3 Gene

Protein Domains for LHFPL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UP9

UniProtKB/Swiss-Prot:

LHPL3_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL3: view

No data available for Gene Families for LHFPL3 Gene

Function for LHFPL3 Gene

Molecular function for LHFPL3 Gene

GENATLAS Biochemistry:
lipoma HMGIC (high mobility group I C protein) fusion partner like gene 3

Phenotypes for LHFPL3 Gene

genes like me logo Genes that share phenotypes with LHFPL3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LHFPL3

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHFPL3 Gene

Localization for LHFPL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL3 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 LHFPL3 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for LHFPL3 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 LHFPL3: view

Pathways & Interactions for LHFPL3 Gene

SuperPathways for LHFPL3 Gene

No Data Available

Interacting Proteins for LHFPL3 Gene

Selected Interacting proteins: Q86UP9-LHPL3_HUMAN for LHFPL3 Gene via IID

Symbol External ID(s) Details
COL11A2

Gene Ontology (GO) - Biological Process for LHFPL3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LHFPL3 Gene

Drugs & Compounds for LHFPL3 Gene

No Compound Related Data Available

Transcripts for LHFPL3 Gene

mRNA/cDNA for LHFPL3 Gene

Unigene Clusters for LHFPL3 Gene

Lipoma HMGIC fusion partner-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL3 Gene

No ASD Table

Relevant External Links for LHFPL3 Gene

GeneLoc Exon Structure for
LHFPL3
ECgene alternative splicing isoforms for
LHFPL3

Expression for LHFPL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LHFPL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHFPL3 Gene

This gene is overexpressed in Brain - Amygdala (x6.1), Brain - Putamen (basal ganglia) (x6.0), Brain - Nucleus accumbens (basal ganglia) (x6.0), Brain - Caudate (basal ganglia) (x5.5), Brain - Substantia nigra (x4.9), and Brain - Hypothalamus (x4.6).

Protein differential expression in normal tissues from HIPED for LHFPL3 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LHFPL3 Gene



Protein tissue co-expression partners for LHFPL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LHFPL3 Gene:

LHFPL3

SOURCE GeneReport for Unigene cluster for LHFPL3 Gene:

Hs.659164

Evidence on tissue expression from TISSUES for LHFPL3 Gene

  • Nervous system(4.5)
  • Skin(2.6)
genes like me logo Genes that share expression patterns with LHFPL3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LHFPL3 Gene

Orthologs for LHFPL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHFPL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LHFPL3 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia LHFPL3 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LHFPL3 34 35
  • 97.45 (n)
rat
(Rattus norvegicus)
Mammalia Lhfpl3 34
  • 95.85 (n)
mouse
(Mus musculus)
Mammalia Lhfpl3 34 16
  • 95.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LHFPL3 35
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LHFPL3 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl3 34
  • 79.42 (n)
zebrafish
(Danio rerio)
Actinopterygii lhfpl3 34 35
  • 75.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tmhs 34 35
  • 54.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005724 34
  • 53.7 (n)
worm
(Caenorhabditis elegans)
Secernentea F26D10.11 35
  • 25 (a)
OneToMany
Species where no ortholog for LHFPL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for LHFPL3 Gene

ENSEMBL:
Gene Tree for LHFPL3 (if available)
TreeFam:
Gene Tree for LHFPL3 (if available)

Paralogs for LHFPL3 Gene

Paralogs for LHFPL3 Gene

(3) SIMAP similar genes for LHFPL3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LHFPL3: view

Variants for LHFPL3 Gene

Sequence variations from dbSNP and Humsavar for LHFPL3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000000207 -- 104,749,954(+) CCCTA(G/T)TCCCT intron-variant
rs1000003388 -- 104,450,422(+) AGTGC(A/G)GGGAC intron-variant
rs1000005886 -- 104,412,823(+) AAGCA(A/G)TCCTA intron-variant
rs1000016791 -- 104,487,686(+) CTATT(C/G)AGGGA intron-variant
rs1000017033 -- 104,792,084(+) TTCGA(A/T)ATCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LHFPL3 Gene

Variant ID Type Subtype PubMed ID
dgv1315e214 CNV loss 21293372
dgv1946e212 CNV loss 25503493
dgv3636n106 CNV deletion 24896259
dgv425n21 CNV gain 19592680
dgv6545n100 CNV gain 25217958
dgv6546n100 CNV loss 25217958
esv1003973 CNV deletion 20482838
esv1092690 CNV deletion 17803354
esv1111234 CNV insertion 17803354
esv1256883 CNV deletion 17803354
esv1338796 CNV deletion 17803354
esv1706323 CNV insertion 17803354
esv2308211 CNV deletion 18987734
esv2422057 CNV deletion 20811451
esv2519592 CNV deletion 19546169
esv2543858 CNV loss 19546169
esv2626780 CNV deletion 19546169
esv2660132 CNV deletion 23128226
esv2666844 CNV deletion 23128226
esv27227 CNV loss 19812545
esv2734959 CNV deletion 23290073
esv2734960 CNV deletion 23290073
esv2734962 CNV deletion 23290073
esv2734963 CNV deletion 23290073
esv2734964 CNV deletion 23290073
esv2761086 CNV loss 21179565
esv3277273 CNV deletion 24192839
esv3277384 CNV deletion 24192839
esv3306774 CNV mobile element insertion 20981092
esv3308586 CNV mobile element insertion 20981092
esv3356233 CNV insertion 20981092
esv3360317 CNV insertion 20981092
esv3422290 CNV insertion 20981092
esv3449372 CNV insertion 20981092
esv3542210 CNV deletion 23714750
esv3542212 CNV deletion 23714750
esv3542213 CNV deletion 23714750
esv3572049 CNV loss 25503493
esv3597 CNV loss 18987735
esv3614393 CNV gain 21293372
esv3614400 CNV loss 21293372
esv3614403 CNV loss 21293372
esv3614404 CNV loss 21293372
esv3614405 CNV loss 21293372
esv3614407 CNV loss 21293372
esv3614408 CNV gain 21293372
esv3614409 CNV loss 21293372
esv3891172 CNV gain 25118596
esv5739 CNV loss 19470904
esv989774 CNV insertion 20482838
esv995457 CNV deletion 20482838
nsv1019625 CNV gain 25217958
nsv1024532 CNV gain 25217958
nsv1075049 CNV deletion 25765185
nsv1114993 CNV deletion 24896259
nsv1122169 CNV deletion 24896259
nsv1145807 CNV deletion 26484159
nsv1149264 CNV duplication 26484159
nsv1161592 CNV deletion 26073780
nsv1161593 CNV deletion 26073780
nsv1161594 CNV deletion 26073780
nsv436902 CNV insertion 17901297
nsv437560 CNV loss 16327808
nsv442092 CNV loss 18776908
nsv510104 OTHER sequence alteration 20534489
nsv510105 OTHER sequence alteration 20534489
nsv512917 CNV insertion 21212237
nsv514436 CNV loss 21397061
nsv516749 CNV loss 19592680
nsv522695 CNV loss 19592680
nsv5887 CNV deletion 18451855
nsv608065 CNV gain 21841781
nsv608067 CNV loss 21841781
nsv8195 CNV loss 18304495
nsv831086 CNV loss 17160897
nsv949923 CNV duplication 24416366
nsv955961 CNV deletion 24416366
nsv957576 CNV deletion 24416366
nsv970927 CNV duplication 23825009

Variation tolerance for LHFPL3 Gene

Gene Damage Index Score: 1.95; 36.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHFPL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHFPL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL3 Gene

Disorders for LHFPL3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LHFPL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lipoma
  • lipomatosis, multiple
deafness, autosomal recessive 53
  • autosomal recessive nonsyndromic deafness 53
deafness, autosomal recessive 66
  • autosomal recessive nonsyndromic deafness 66
deafness, autosomal recessive 67
  • autosomal recessive nonsyndromic deafness 67
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LHFPL3

Genetic Association Database (GAD)
LHFPL3
Human Genome Epidemiology (HuGE) Navigator
LHFPL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL3
genes like me logo Genes that share disorders with LHFPL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LHFPL3 Gene

Publications for LHFPL3 Gene

  1. A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K. … Price R.A. (PLoS ONE 2011) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for LHFPL3 Gene

Sources for LHFPL3 Gene

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