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

    Gene ID: 10184, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See LHFPL2 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (78485224..78770256, complement)
    105.20201022 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 NFE2L2 motif-containing MPRA enhancer 287 Neighboring gene SCAMP1 antisense RNA 1 Neighboring gene secretory carrier membrane protein 1 Neighboring gene Sharpr-MPRA regulatory region 10457 Neighboring gene high mobility group box 1 pseudogene 21 Neighboring gene NFE2L2 motif-containing MPRA enhancer 185 Neighboring gene Sharpr-MPRA regulatory region 2428 Neighboring gene arylsulfatase B Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of selenium concentrations.
    GeneReviews: Not available
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_005779.3NP_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
      Q6ZUX7
      UniProtKB/TrEMBL
      A0A024RAM8
      Related
      ENSP00000369702.2, ENST00000380345.7
      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      78485224..78770256 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454322.1XP_024310090.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
    2. XM_024454323.1XP_024310091.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
    3. XM_006714515.2XP_006714578.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      See identical proteins and their annotated locations for XP_006714578.1

      UniProtKB/Swiss-Prot
      Q6ZUX7
      UniProtKB/TrEMBL
      A0A024RAM8
      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
    4. XM_024454321.1XP_024310089.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
    5. XM_024454324.1XP_024310092.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      Related
      ENSP00000425906.1, ENST00000515007.6
      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein
    6. XM_024454325.1XP_024310093.1  LHFPL tetraspan subfamily member 2 protein isoform X1

      Conserved Domains (1) summary
      pfam10242
      Location:9204
      L_HMGIC_fpl; Lipoma HMGIC fusion partner-like protein

    RNA

    1. XR_948226.2 RNA Sequence

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