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

Gene ID: 10184, updated on 7-Jun-2020

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

Genomic context

See LHFPL2 in Genome Data Viewer
Location:
5q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (78485224..78770256, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (77781038..77944648, 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

NHGRI GWAS Catalog

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

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
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
development of primary female sexual characteristics ISS
Inferred from Sequence or Structural Similarity
more info
 
development of primary male sexual characteristics ISS
Inferred from Sequence or Structural Similarity
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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.

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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