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LRRC32 leucine rich repeat containing 32 [ Homo sapiens (human) ]

Gene ID: 2615, updated on 11-Apr-2024

Summary

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Official Symbol
LRRC32provided by HGNC
Official Full Name
leucine rich repeat containing 32provided by HGNC
Primary source
HGNC:HGNC:4161
See related
Ensembl:ENSG00000137507 MIM:137207; AllianceGenome:HGNC:4161
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
GARP; CPPRDD; D11S833E
Summary
This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 24.7), lung (RPKM 19.4) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11q13.5
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76657524..76670747, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76588003..76601225, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76368568..76381791, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155703-76156339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5291 Neighboring gene Sharpr-MPRA regulatory region 9860 Neighboring gene EMSY transcriptional repressor, BRCA2 interacting Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76253613-76254812 Neighboring gene NANOG hESC enhancer GRCh37_chr11:76264142-76264692 Neighboring gene NANOG hESC enhancer GRCh37_chr11:76265528-76266029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76290085-76290777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76300657-76301329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76308371-76309022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76314807-76315308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76319836-76320534 Neighboring gene long intergenic non-protein coding RNA 2757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5292 Neighboring gene Sharpr-MPRA regulatory region 5087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76364813-76365336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5298 Neighboring gene Sharpr-MPRA regulatory region 9026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76399698-76400650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76409236-76409816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76409817-76410395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76410396-76410975 Neighboring gene guanylate cyclase 2E, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76419008-76419508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76421157-76421658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76432679-76433270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3788 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:76456551-76456863 Neighboring gene uncharacterized LOC105369397

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. New insight into GARP striking role in cancer progression: application for cancer therapy. Lahimchi MR, et al. Med Oncol, 2022 Dec 2. PMID 36460874
  2. GARP Correlates With Tumor-Infiltrating T-Cells and Predicts the Outcome of Gastric Cancer. Jiang S, et al. Front Immunol, 2021. PMID 34421887, Free PMC Article
  3. Novel anti-GARP antibody DS-1055a augments anti-tumor immunity by depleting highly suppressive GARP+ regulatory T cells. Satoh K, et al. Int Immunol, 2021 Jul 23. PMID 34235533
  4. Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32. Lehmkuhl P, et al. Cell Mol Immunol, 2021 Jul. PMID 34059789, Free PMC Article
  5. Expression of Leucine-rich Repeat-containing Protein 32 Following Lymphocyte Stimulation in Patients with Non-IgE-mediated Gastrointestinal Food Allergies. Yagi H, et al. Yale J Biol Med, 2020 Dec. PMID 33380925, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Analysis of LAP[+] and GARP[+] Treg subsets in peripheral blood of patients with neuromyelitis optica spectrum disorders.
    Title: Analysis of LAP(+) and GARP(+) Treg subsets in peripheral blood of patients with neuromyelitis optica spectrum disorders.
  2. New insight into GARP striking role in cancer progression: application for cancer therapy.
    Title: New insight into GARP striking role in cancer progression: application for cancer therapy.
  3. Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
    Title: Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
  4. Novel anti-GARP antibody DS-1055a augments anti-tumor immunity by depleting highly suppressive GARP+ regulatory T cells.
    Title: Novel anti-GARP antibody DS-1055a augments anti-tumor immunity by depleting highly suppressive GARP+ regulatory T cells.
  5. Expression of Leucine-rich Repeat-containing Protein 32 Following Lymphocyte Stimulation in Patients with Non-IgE-mediated Gastrointestinal Food Allergies.
    Title: Expression of Leucine-rich Repeat-containing Protein 32 Following Lymphocyte Stimulation in Patients with Non-IgE-mediated Gastrointestinal Food Allergies.
  6. GARP Correlates With Tumor-Infiltrating T-Cells and Predicts the Outcome of Gastric Cancer.
    Title: GARP Correlates With Tumor-Infiltrating T-Cells and Predicts the Outcome of Gastric Cancer.
  7. The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.
    Title: The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.
  8. GARP promotes the proliferation and therapeutic resistance of bone sarcoma cancer cells through the activation of TGF-beta.
    Title: GARP promotes the proliferation and therapeutic resistance of bone sarcoma cancer cells through the activation of TGF-β.
  9. Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population.
    Title: Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population.
  10. Thrombin contributes to cancer immune evasion via proteolysis of platelet-bound GARP to activate LTGF-beta.
    Title: Thrombin contributes to cancer immune evasion via proteolysis of platelet-bound GARP to activate LTGF-β.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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

Associated conditions

Description Tests
Cleft palate, proliferative retinopathy, and developmental delay
MedGen: C5436739 OMIM: 619074 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
EBI GWAS Catalog
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
EBI GWAS Catalog
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
EBI GWAS Catalog
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
EBI GWAS Catalog
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of activated T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
transforming growth factor beta activator LRRC32
Names
garpin
glycoprotein A repetitions predominant
leucine-rich repeat-containing protein 32

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_001128922.2 → NP_001122394.1  transforming growth factor beta activator LRRC32 isoform a precursor

    See identical proteins and their annotated locations for NP_001122394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AP001189, BC052210, BC070079, BI010671, DA591993
    Consensus CDS
    CCDS8245.1
    UniProtKB/Swiss-Prot
    Q14392, Q86V06
    Related
    ENSP00000260061.5, ENST00000260061.9
    Conserved Domains (5) summary
    PLN03150
    Location:496 → 654
    PLN03150; hypothetical protein; Provisional
    cd00116
    Location:19 → 277
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:563 → 575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:51 → 74
    LRR_RI; leucine-rich repeat [structural motif]
    cd21340
    Location:198 → 423
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  2. NM_001370187.1 → NP_001357116.1  transforming growth factor beta activator LRRC32 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.
    Source sequence(s)
    AP001189, KF455417
    Consensus CDS
    CCDS8245.1
    UniProtKB/Swiss-Prot
    Q14392, Q86V06
    Related
    ENSP00000385766.1, ENST00000404995.5
    Conserved Domains (5) summary
    PLN03150
    Location:496 → 654
    PLN03150; hypothetical protein; Provisional
    cd00116
    Location:19 → 277
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:563 → 575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:51 → 74
    LRR_RI; leucine-rich repeat [structural motif]
    cd21340
    Location:198 → 423
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  3. NM_001370188.1 → NP_001357117.1  transforming growth factor beta activator LRRC32 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 2, and 3, encodes isoform a.
    Source sequence(s)
    AP001189, KF455417
    Consensus CDS
    CCDS8245.1
    UniProtKB/Swiss-Prot
    Q14392, Q86V06
    Conserved Domains (5) summary
    PLN03150
    Location:496 → 654
    PLN03150; hypothetical protein; Provisional
    cd00116
    Location:19 → 277
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:563 → 575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:51 → 74
    LRR_RI; leucine-rich repeat [structural motif]
    cd21340
    Location:198 → 423
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  4. NM_001370189.1 → NP_001357118.1  transforming growth factor beta activator LRRC32 isoform b

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417
    Conserved Domains (5) summary
    PLN03150
    Location:474 → 632
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:27 → 552
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00031
    Location:541 → 553
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:29 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:7 → 255
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  5. NM_001370190.1 → NP_001357119.1  transforming growth factor beta activator LRRC32 isoform c

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417
    Conserved Domains (4) summary
    PLN03150
    Location:386 → 544
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:15 → 464
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:41 → 64
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:1 → 167
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  6. NM_001370191.1 → NP_001357120.1  transforming growth factor beta activator LRRC32 isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AP001189

  7. NM_005512.3 → NP_005503.1  transforming growth factor beta activator LRRC32 isoform a precursor

    See identical proteins and their annotated locations for NP_005503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AK314971, AP001189, BC052210, BC070079, BI010671, DA591993
    Consensus CDS
    CCDS8245.1
    UniProtKB/Swiss-Prot
    Q14392, Q86V06
    Related
    ENSP00000384126.2, ENST00000407242.6
    Conserved Domains (5) summary
    PLN03150
    Location:496 → 654
    PLN03150; hypothetical protein; Provisional
    cd00116
    Location:19 → 277
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:563 → 575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:51 → 74
    LRR_RI; leucine-rich repeat [structural motif]
    cd21340
    Location:198 → 423
    PPP1R42; protein phosphatase 1 regulatory subunit 42

RNA

  1. NR_163259.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    76657524..76670747 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426743.1 → XP_047282699.1  transforming growth factor beta activator LRRC32 isoform X2

  2. XM_011544935.4 → XP_011543237.1  transforming growth factor beta activator LRRC32 isoform X1

    See identical proteins and their annotated locations for XP_011543237.1

    UniProtKB/Swiss-Prot
    Q14392, Q86V06
    Conserved Domains (5) summary
    PLN03150
    Location:496 → 654
    PLN03150; hypothetical protein; Provisional
    cd00116
    Location:19 → 277
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:563 → 575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:51 → 74
    LRR_RI; leucine-rich repeat [structural motif]
    cd21340
    Location:198 → 423
    PPP1R42; protein phosphatase 1 regulatory subunit 42

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    76588003..76601225 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368381.1 → XP_054224356.1  transforming growth factor beta activator LRRC32 isoform X2

  2. XM_054368380.1 → XP_054224355.1  transforming growth factor beta activator LRRC32 isoform X1

    UniProtKB/Swiss-Prot
    Q14392, Q86V06
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14392.1 GenPept UniProtKB/Swiss-Prot:Q14392

Gene LinkOut

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