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Aliases for LHFPL2 Gene

Aliases for LHFPL2 Gene

  • LHFPL Tetraspan Subfamily Member 2 2 3 5
  • Lipoma HMGIC Fusion Partner-Like 2 Protein 4
  • Lipoma HMGIC Fusion Partner-Like 2 2
  • KIAA0206 4

External Ids for LHFPL2 Gene

Previous GeneCards Identifiers for LHFPL2 Gene

  • GC05M076586
  • GC05M078017
  • GC05M077819
  • GC05M077865
  • GC05M077816
  • GC05M072987
  • GC05M077781

Summaries for LHFPL2 Gene

Entrez Gene Summary for LHFPL2 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. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for LHFPL2 Gene

LHFPL2 (LHFPL Tetraspan Subfamily Member 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is LHFPL6.

UniProtKB/Swiss-Prot for LHFPL2 Gene

  • Plays a role in female and male fertility. Involved in distal reproductive tract development.

Gene Wiki entry for LHFPL2 Gene

Additional gene information for LHFPL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL2 Gene

Genomics for LHFPL2 Gene

GeneHancer (GH) Regulatory Elements for LHFPL2 Gene

Promoters and enhancers for LHFPL2 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
GH05I078646 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.1 +121.4 121364 4.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 GLIS2 ZNF213 ZNF207 LHFPL2 BHMT2 HMGB1P21 ENSG00000254170
GH05I078771 Enhancer 1.1 Ensembl ENCODE 550.8 -1.9 -1882 1.4 HDAC1 PKNOX1 ARNT NCOA2 CHAMP1 TCF12 GATA2 SIRT6 IKZF2 SMARCA5 LHFPL2 GC05P078984
GH05I078590 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +175.1 175115 8.8 ATF1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF48 ZNF766 ATF7 FOS LHFPL2 SCAMP1 GC05M078588 GC05M078630
GH05I078585 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +182.8 182816 3.5 PKNOX1 SMAD1 FOXA2 ARNT NCOA2 TCF12 ZNF766 GATA2 FOS NCOA1 LHFPL2 SCAMP1 GC05M078588 PIR51536
GH05I078543 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +223.4 223374 6.4 FOXA2 MLX IRF4 ETS1 YY1 TCF12 ATF7 FOS RUNX3 RXRA LHFPL2 SCAMP1 PIR51536 GC05M078588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LHFPL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LHFPL2 gene promoter:

Genomic Locations for LHFPL2 Gene

Genomic Locations for LHFPL2 Gene
chr5:78,485,215-78,770,021
(GRCh38/hg38)
Size:
284,807 bases
Orientation:
Minus strand
chr5:77,781,038-78,065,844
(GRCh37/hg19)

Genomic View for LHFPL2 Gene

Genes around LHFPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL2 Gene

Proteins for LHFPL2 Gene

  • Protein details for LHFPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZUX7-LHPL2_HUMAN
    Recommended name:
    LHFPL tetraspan subfamily member 2 protein
    Protein Accession:
    Q6ZUX7
    Secondary Accessions:
    • B2RMQ6
    • Q7Z5P0
    • Q92605

    Protein attributes for LHFPL2 Gene

    Size:
    228 amino acids
    Molecular mass:
    24486 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LHFPL2 Gene

Post-translational modifications for LHFPL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHFPL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL2 Gene

Domains & Families for LHFPL2 Gene

Gene Families for LHFPL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LHFPL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LHFPL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZUX7

UniProtKB/Swiss-Prot:

LHPL2_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL2: view

Function for LHFPL2 Gene

Molecular function for LHFPL2 Gene

GENATLAS Biochemistry:
lipoma HMGIC (high mobility group I C protein) fusion partner like gene 2
UniProtKB/Swiss-Prot Function:
Plays a role in female and male fertility. Involved in distal reproductive tract development.

Phenotypes From GWAS Catalog for LHFPL2 Gene

Gene Ontology (GO) - Molecular Function for LHFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with LHFPL2: view
genes like me logo Genes that share phenotypes with LHFPL2: view

Animal Model Products

miRNA for LHFPL2 Gene

miRTarBase miRNAs that target LHFPL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHFPL2 Gene

Localization for LHFPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL2 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 LHFPL2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LHFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031092 platelet alpha granule membrane TAS --
genes like me logo Genes that share ontologies with LHFPL2: view

Pathways & Interactions for LHFPL2 Gene

genes like me logo Genes that share pathways with LHFPL2: view

Interacting Proteins for LHFPL2 Gene

Gene Ontology (GO) - Biological Process for LHFPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007338 single fertilization IEA --
GO:0008150 biological_process ND --
GO:0046545 development of primary female sexual characteristics ISS --
GO:0046546 development of primary male sexual characteristics ISS --
genes like me logo Genes that share ontologies with LHFPL2: view

No data available for SIGNOR curated interactions for LHFPL2 Gene

Drugs & Compounds for LHFPL2 Gene

No Compound Related Data Available

Transcripts for LHFPL2 Gene

Unigene Clusters for LHFPL2 Gene

Lipoma HMGIC fusion partner-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL2 Gene

No ASD Table

Relevant External Links for LHFPL2 Gene

GeneLoc Exon Structure for
LHFPL2
ECgene alternative splicing isoforms for
LHFPL2

Expression for LHFPL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LHFPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LHFPL2 Gene

This gene is overexpressed in Platelet (26.7) and Peripheral blood mononuclear cells (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LHFPL2 Gene



NURSA nuclear receptor signaling pathways regulating expression of LHFPL2 Gene:

LHFPL2

SOURCE GeneReport for Unigene cluster for LHFPL2 Gene:

Hs.79299

mRNA Expression by UniProt/SwissProt for LHFPL2 Gene:

Q6ZUX7-LHPL2_HUMAN
Tissue specificity: Expressed in all tissues and cell lines examined except brain and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for LHFPL2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with LHFPL2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LHFPL2 Gene

Orthologs for LHFPL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHFPL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LHFPL2 34 33
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LHFPL2 33 34
  • 88.6 (n)
dog
(Canis familiaris)
Mammalia LHFPL2 34 33
  • 88.59 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LHFPL2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LHFPL2 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lhfpl2 33
  • 85.91 (n)
mouse
(Mus musculus)
Mammalia Lhfpl2 34 16 33
  • 85.44 (n)
OneToOne
chicken
(Gallus gallus)
Aves LHFPL2 34 33
  • 78.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LHFPL2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl2 33
  • 74.81 (n)
Str.9232 33
zebrafish
(Danio rerio)
Actinopterygii lhfpl2b 34 34
  • 72 (a)
OneToMany
lhfpl2a 34 33
  • 69.05 (n)
OneToMany
Dr.14573 33
fruit fly
(Drosophila melanogaster)
Insecta CG3770 34
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for LHFPL2 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)
  • 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 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 LHFPL2 Gene

ENSEMBL:
Gene Tree for LHFPL2 (if available)
TreeFam:
Gene Tree for LHFPL2 (if available)

Paralogs for LHFPL2 Gene

Paralogs for LHFPL2 Gene

genes like me logo Genes that share paralogs with LHFPL2: view

Variants for LHFPL2 Gene

Sequence variations from dbSNP and Humsavar for LHFPL2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000009820 -- 78,616,220(-) G/A intron_variant
rs1000053630 -- 78,583,606(-) T/C intron_variant
rs1000058102 -- 78,609,425(-) T/C intron_variant
rs1000062662 -- 78,521,562(-) A/G intron_variant
rs1000110040 -- 78,609,648(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LHFPL2 Gene

Variant ID Type Subtype PubMed ID
dgv1616e212 CNV loss 25503493
dgv9889n54 CNV loss 21841781
dgv9890n54 CNV gain 21841781
dgv9891n54 CNV loss 21841781
dgv9892n54 CNV gain+loss 21841781
esv2233315 CNV deletion 18987734
esv25871 CNV loss 19812545
esv2670505 CNV deletion 23128226
esv2673127 CNV deletion 23128226
esv2730337 CNV deletion 23290073
esv2730338 CNV deletion 23290073
esv2730340 CNV deletion 23290073
esv2730341 CNV deletion 23290073
esv2730342 CNV deletion 23290073
esv2730343 CNV deletion 23290073
esv2762527 CNV gain 21179565
esv3366369 CNV duplication 20981092
esv3566143 CNV deletion 23714750
esv3566144 CNV deletion 23714750
esv3570210 CNV loss 25503493
esv3570213 CNV loss 25503493
esv3605510 CNV gain 21293372
esv3605511 CNV loss 21293372
nsv1021871 CNV gain 25217958
nsv1074311 CNV deletion 25765185
nsv1147024 CNV deletion 26484159
nsv1151653 CNV duplication 26484159
nsv328668 CNV deletion 16902084
nsv476000 CNV novel sequence insertion 20440878
nsv4891 CNV insertion 18451855
nsv528833 CNV loss 19592680
nsv598701 CNV gain 21841781
nsv598708 CNV gain 21841781
nsv830356 CNV gain+loss 17160897
nsv955883 CNV deletion 24416366
nsv958296 CNV deletion 24416366
nsv968954 CNV duplication 23825009

Variation tolerance for LHFPL2 Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LHFPL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHFPL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL2 Gene

Disorders for LHFPL2 Gene

Additional Disease Information for LHFPL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for LHFPL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LHFPL2 Gene

Publications for LHFPL2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PMID: 19668339) Potkin SG … Alzheimer's Disease Neuroimaging Initiative (PloS one 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4 58

Products for LHFPL2 Gene

Sources for LHFPL2 Gene

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