U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

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

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    Preferred Names
    transforming growth factor beta activator LRRC32
    Names
    garpin
    glycoprotein A repetitions predominant
    leucine-rich repeat-containing protein 32

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous