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    LEAP2 liver enriched antimicrobial peptide 2 [ Homo sapiens (human) ]

    Gene ID: 116842, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LEAP2provided by HGNC
    Official Full Name
    liver enriched antimicrobial peptide 2provided by HGNC
    Primary source
    HGNC:HGNC:29571
    See related
    Ensembl:ENSG00000164406 MIM:611373; AllianceGenome:HGNC:29571
    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
    LEAP-2
    Summary
    This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]
    Expression
    Biased expression in liver (RPKM 158.3), small intestine (RPKM 13.5) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See LEAP2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132873668..132875046)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133393425..133394803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132209360..132210738)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 192 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:132201613-132202812 Neighboring gene growth differentiation factor 9 Neighboring gene ubiquinol-cytochrome c reductase complex III subunit VII Neighboring gene ALF transcription elongation factor 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 50 Neighboring gene ATPase H+ transporting V0 subunit e1 pseudogene 1

    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 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. Levels of the Novel Endogenous Antagonist of Ghrelin Receptor, Liver-Enriched Antimicrobial Peptide-2, in Patients with Rheumatoid Arthritis. Francisco V, et al. Nutrients, 2020 Apr 6. PMID 32268520, Free PMC Article
    2. Expression and functional analyses of liver expressed antimicrobial peptide-2 (LEAP-2) variant forms in human tissues. Howard A, et al. Cell Immunol, 2010. PMID 20038463
    3. Structural and functional analysis of human liver-expressed antimicrobial peptide 2. Henriques ST, et al. Chembiochem, 2010 Oct 18. PMID 20845358
    4. Structure-activity relationship of human liver-expressed antimicrobial peptide 2. Hocquellet A, et al. Peptides, 2010 Jan. PMID 19852990
    5. Decreased levels of liver-expressed antimicrobial peptide-2 and ghrelin are related to insulin resistance in women with polycystic ovary syndrome. Aslanipour B, et al. Gynecol Endocrinol, 2020 Mar. PMID 31526069

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The LEAP2 Response to Cancer-Related Anorexia-Cachexia Syndrome in Male Mice and Patients.
      Title: The LEAP2 Response to Cancer-Related Anorexia-Cachexia Syndrome in Male Mice and Patients.
    2. LEAP2 is associated with cardiometabolic markers but is unchanged by antidiabetic treatment in people with prediabetes.
      Title: LEAP2 is associated with cardiometabolic markers but is unchanged by antidiabetic treatment in people with prediabetes.
    3. Study of the Ghrelin/LEAP-2 Ratio in Humans and Rats during Different Phases of Pregnancy.
      Title: Study of the Ghrelin/LEAP-2 Ratio in Humans and Rats during Different Phases of Pregnancy.
    4. LEAP-2/ghrelin interplay in adult growth hormone deficiency: Cause or consequence? A pilot study.
      Title: LEAP-2/ghrelin interplay in adult growth hormone deficiency: Cause or consequence? A pilot study.
    5. Circulating LEAP-2 is associated with puberty in girls.
      Title: Circulating LEAP-2 is associated with puberty in girls.
    6. LEAP2 has antagonized the ghrelin receptor GHSR1a since its emergence in ancient fish.
      Title: LEAP2 has antagonized the ghrelin receptor GHSR1a since its emergence in ancient fish.
    7. Human liver-expressed antimicrobial peptide 2 elevation in the cerebrospinal fluid in bacterial meningitis.
      Title: Human liver-expressed antimicrobial peptide 2 elevation in the cerebrospinal fluid in bacterial meningitis.
    8. Identifying key residues and key interactions for the binding of LEAP2 to receptor GHSR1a.
      Title: Identifying key residues and key interactions for the binding of LEAP2 to receptor GHSR1a.
    9. Levels of the Novel Endogenous Antagonist of Ghrelin Receptor, Liver-Enriched Antimicrobial Peptide-2, in Patients with Rheumatoid Arthritis.
      Title: Levels of the Novel Endogenous Antagonist of Ghrelin Receptor, Liver-Enriched Antimicrobial Peptide-2, in Patients with Rheumatoid Arthritis.
    10. Decreased levels of liver-expressed antimicrobial peptide-2 and ghrelin are related to insulin resistance in women with polycystic ovary syndrome.
      Title: Decreased levels of liver-expressed antimicrobial peptide-2 and ghrelin are related to insulin resistance in women with polycystic ovary syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    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

    Potential readthrough

    Included gene: UQCRQ

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to fungus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    liver-expressed antimicrobial peptide 2

    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_052971.3 → NP_443203.1  liver-expressed antimicrobial peptide 2 precursor

      See identical proteins and their annotated locations for NP_443203.1

      Status: REVIEWED

      Source sequence(s)
      AC004500, AJ409065, BX443829
      Consensus CDS
      CCDS4163.1
      UniProtKB/Swiss-Prot
      D3DQ91, Q969E1
      UniProtKB/TrEMBL
      Q7Z5F5
      Related
      ENSP00000296877.2, ENST00000296877.3
      Conserved Domains (1) summary
      pfam07359
      Location:1 → 77
      LEAP-2; Liver-expressed antimicrobial peptide 2 precursor (LEAP-2)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      132873668..132875046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      133393425..133394803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969E1.1 GenPept UniProtKB/Swiss-Prot:Q969E1

    Gene LinkOut

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

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