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

    Gene ID: 2615, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRRC32 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76657524..76670747, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76588003..76601225, complement)
    RS_2024_09 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

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor ligand inhibitor activity IDA
    Inferred from Direct Assay
    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 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001128922.2NP_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:496654
      PLN03150; hypothetical protein; Provisional
      cd00116
      Location:19277
      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:563575
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:198423
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    2. NM_001370187.1NP_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:496654
      PLN03150; hypothetical protein; Provisional
      cd00116
      Location:19277
      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:563575
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:198423
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    3. NM_001370188.1NP_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:496654
      PLN03150; hypothetical protein; Provisional
      cd00116
      Location:19277
      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:563575
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:198423
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    4. NM_001370189.1NP_001357118.1  transforming growth factor beta activator LRRC32 isoform b

      Status: REVIEWED

      Source sequence(s)
      AP001189, KF455417
      Conserved Domains (5) summary
      PLN03150
      Location:474632
      PLN03150; hypothetical protein; Provisional
      PLN00113
      Location:27552
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00031
      Location:541553
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:2952
      LRR_RI; leucine-rich repeat [structural motif]
      cl29113
      Location:7255
      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_001370190.1NP_001357119.1  transforming growth factor beta activator LRRC32 isoform c

      Status: REVIEWED

      Source sequence(s)
      AP001189, KF455417
      Conserved Domains (4) summary
      PLN03150
      Location:386544
      PLN03150; hypothetical protein; Provisional
      PLN00113
      Location:15464
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:4164
      LRR_RI; leucine-rich repeat [structural motif]
      cl29113
      Location:1167
      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_001370191.1NP_001357120.1  transforming growth factor beta activator LRRC32 isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AP001189
    7. NM_005512.3NP_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:496654
      PLN03150; hypothetical protein; Provisional
      cd00116
      Location:19277
      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:563575
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:198423
      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_2024_08

    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_047426743.1XP_047282699.1  transforming growth factor beta activator LRRC32 isoform X2

    2. XM_011544935.4XP_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:496654
      PLN03150; hypothetical protein; Provisional
      cd00116
      Location:19277
      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:563575
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:198423
      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_054368381.1XP_054224356.1  transforming growth factor beta activator LRRC32 isoform X2

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

      UniProtKB/Swiss-Prot
      Q14392, Q86V06