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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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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

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