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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Circulating LEAP-2 is associated with puberty in girls.
Title: Circulating LEAP-2 is associated with puberty in girls.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

REN72037 (e-PCR)
- UniSTS:396837

REN72038 (e-PCR)
- UniSTS:396838

REN72039 (e-PCR)
- UniSTS:396839

REN72040 (e-PCR)
- UniSTS:396840

REN72041 (e-PCR)
- UniSTS:396841

REN72042 (e-PCR)
- UniSTS:396842

REN72043 (e-PCR)
- UniSTS:396843

REN72044 (e-PCR)
- UniSTS:396844

REN72045 (e-PCR)
- UniSTS:396845

REN72046 (e-PCR)
- UniSTS:396846

REN72047 (e-PCR)
- UniSTS:396847

REN72048 (e-PCR)
- UniSTS:396848

REN72049 (e-PCR)
- UniSTS:396849

REN72050 (e-PCR)
- UniSTS:396850

REN72051 (e-PCR)
- UniSTS:396851

REN72052 (e-PCR)
- UniSTS:396852

RH101992 (e-PCR)
- UniSTS:96326

ECD02647 (e-PCR)
- UniSTS:283741

ECD03777 (e-PCR)
- UniSTS:284857

STS-R93723 (e-PCR)
- UniSTS:24762

ECD04362 (e-PCR)
- UniSTS:285436

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.