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    LHFPL6 LHFPL tetraspan subfamily member 6 [ Homo sapiens (human) ]

    Gene ID: 10186, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LHFPL6provided by HGNC
    Official Full Name
    LHFPL tetraspan subfamily member 6provided by HGNC
    Primary source
    HGNC:HGNC:6586
    See related
    Ensembl:ENSG00000183722 MIM:606710; AllianceGenome:HGNC:6586
    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
    Also known as
    LHFP
    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. 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]
    Expression
    Broad expression in fat (RPKM 71.3), placenta (RPKM 69.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LHFPL6 in Genome Data Viewer
    Location:
    13q13.3-q14.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (39342892..39603193, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (38562524..38821662, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39917029..40177330, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7598 Neighboring gene uncharacterized LOC124903161 Neighboring gene uncharacterized LOC107984580 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:39902917-39903547 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:39903548-39904177 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:39991180-39992122 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:40072380-40073024 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:40073025-40073669 Neighboring gene uncharacterized LOC105370170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:40086605-40087104 Neighboring gene NANOG hESC enhancer GRCh37_chr13:40089286-40089967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:40137620-40138120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:40138121-40138621 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:40139174-40140373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:40145310-40145877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:40145878-40146444 Neighboring gene protein SPT2 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5278 Neighboring gene microRNA 4305 Neighboring gene component of oligomeric golgi complex 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:40341964-40342464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:40342465-40342965 Neighboring gene RNY4 pseudogene 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma. Nagaishi M, et al. Am J Pathol, 2012 May. PMID 22538188
    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. Multiple loci influencing hippocampal degeneration identified by genome scan. Melville SA, et al. Ann Neurol, 2012 Jul. PMID 22745009, Free PMC Article
    4. 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
    5. 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. Zhao L, et al. Ann Hum Genet, 2013 Jul. PMID 23551011, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Amplification of the LHFP gene is associated with mesenchymal differentiation in gliosarcoma.
      Title: Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.
    2. 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 pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22429

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    LHFPL tetraspan subfamily member 6 protein
    Names
    lipoma HMGIC fusion partner
    NP_005771.1
    XP_011533163.1
    XP_054229964.1

    NCBI Reference Sequences (RefSeq)

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    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_005780.3 → NP_005771.1  LHFPL tetraspan subfamily member 6 protein

      See identical proteins and their annotated locations for NP_005771.1

      Status: REVIEWED

      Source sequence(s)
      AL136358, AL138685, AL158194
      Consensus CDS
      CCDS9369.1
      UniProtKB/Swiss-Prot
      B2R7M2, Q53FC0, Q96SH5, Q9Y693
      Related
      ENSP00000368908.3, ENST00000379589.4
      Conserved Domains (1) summary
      pfam10242
      Location:8 → 193
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      39342892..39603193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534861.2 → XP_011533163.1  LHFPL tetraspan subfamily member 6 protein isoform X1

      See identical proteins and their annotated locations for XP_011533163.1

      UniProtKB/Swiss-Prot
      B2R7M2, Q53FC0, Q96SH5, Q9Y693
      Conserved Domains (1) summary
      pfam10242
      Location:8 → 193
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      38562524..38821662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373989.1 → XP_054229964.1  LHFPL tetraspan subfamily member 6 protein isoform X1

      UniProtKB/Swiss-Prot
      B2R7M2, Q53FC0, Q96SH5, Q9Y693
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y693.1 GenPept UniProtKB/Swiss-Prot:Q9Y693

    Gene LinkOut

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