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    LHFPL2 LHFPL tetraspan subfamily member 2 [ Homo sapiens (human) ]

    Gene ID: 10184, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LHFPL2provided by HGNC
    Official Full Name
    LHFPL tetraspan subfamily member 2provided by HGNC
    Primary source
    HGNC:HGNC:6588
    See related
    Ensembl:ENSG00000145685 MIM:609718; AllianceGenome:HGNC:6588
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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. 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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 15.4), urinary bladder (RPKM 12.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LHFPL2 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (78485230..78648772, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (78966706..79251841, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (77781053..77944595, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77655493-77656089 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77656090-77656686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16120 Neighboring gene SCAMP1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:77687375-77687953 Neighboring gene MPRA-validated peak5302 silencer Neighboring gene secretory carrier membrane protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77753154-77753763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77788199-77788702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22709 Neighboring gene Sharpr-MPRA regulatory region 4849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77800693-77801201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77805941-77806562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16121 Neighboring gene Sharpr-MPRA regulatory region 4833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77828783-77829282 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77838469-77839288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77839289-77840106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22713 Neighboring gene Sharpr-MPRA regulatory region 10457 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:77911679-77912878 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:77922186-77922385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77928669-77929170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77929171-77929670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16124 Neighboring gene uncharacterized LOC124900191 Neighboring gene high mobility group box 1 pseudogene 21 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:77995230-77996429 Neighboring gene Sharpr-MPRA regulatory region 2428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78105507-78106007 Neighboring gene Sharpr-MPRA regulatory region 14877 Neighboring gene arylsulfatase B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78270456-78270975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78270976-78271494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16127

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of genetic modifiers of age-at-onset for familial Parkinson's disease. Hill-Burns EM, et al. Hum Mol Genet, 2016 Sep 1. PMID 27402877, Free PMC Article
    2. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. Petit MM, et al. Genomics, 1999 May 1. PMID 10329012
    3. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Longo-Guess CM, et al. Proc Natl Acad Sci U S A, 2005 May 31. PMID 15905332, Free PMC Article
    4. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. Potkin SG, et al. PLoS One, 2009 Aug 7. PMID 19668339, Free PMC Article
    5. Genome-wide association study of selenium concentrations. Cornelis MC, et al. Hum Mol Genet, 2015 Mar 1. PMID 25343990, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results report evidence for the existence of variants in LHFPL2 and TPM1 with low allele frequencies and large effects on age-at-onset of familial Parkinson's disease.
      Title: Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. The authors present an overview of the LHFP gene family in mouse and humans
      Title: A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0206, DKFZp781E0375

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in development of primary female sexual characteristics ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in development of primary male sexual characteristics ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    LHFPL tetraspan subfamily member 2 protein
    Names
    LHFP-like protein 2
    lipoma HMGIC fusion partner-like 2 protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005779.3 → NP_005770.1  LHFPL tetraspan subfamily member 2 protein

      See identical proteins and their annotated locations for NP_005770.1

      Status: REVIEWED

      Source sequence(s)
      AY309920, CN314535, DA094988
      Consensus CDS
      CCDS4042.1
      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605
      Related
      ENSP00000369702.2, ENST00000380345.7
      Conserved Domains (1) summary
      pfam10242
      Location:9 → 204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      78485230..78648772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714515.3 → XP_006714578.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      See identical proteins and their annotated locations for XP_006714578.1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605
      Related
      ENSP00000425906.1, ENST00000515007.6
      Conserved Domains (1) summary
      pfam10242
      Location:9 → 204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    2. XM_047416606.1 → XP_047272562.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    3. XM_024454321.2 → XP_024310089.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605
      Conserved Domains (1) summary
      pfam10242
      Location:9 → 204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    4. XM_047416608.1 → XP_047272564.1  LHFPL tetraspan subfamily member 2 protein isoform X2

    RNA

    1. XR_007058567.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      78966706..79251841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351398.1 → XP_054207373.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    2. XM_054351408.1 → XP_054207383.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    3. XM_054351404.1 → XP_054207379.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    4. XM_054351399.1 → XP_054207374.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    5. XM_054351402.1 → XP_054207377.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    6. XM_054351397.1 → XP_054207372.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    7. XM_054351401.1 → XP_054207376.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    8. XM_054351407.1 → XP_054207382.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    9. XM_054351403.1 → XP_054207378.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    10. XM_054351400.1 → XP_054207375.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    11. XM_054351406.1 → XP_054207381.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    12. XM_054351405.1 → XP_054207380.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    13. XM_054351409.1 → XP_054207384.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      B2RMQ6, Q6ZUX7, Q7Z5P0, Q92605

    14. XM_054351410.1 → XP_054207385.1  LHFPL tetraspan subfamily member 2 protein isoform X2

    RNA

    1. XR_008487068.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUX7.2 GenPept UniProtKB/Swiss-Prot:Q6ZUX7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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