Gene Gene information from NCBI Gene database.
Entrez ID 2615
Gene name Leucine rich repeat containing 32
Gene symbol LRRC32
Synonyms (NCBI Gene)
CPPRDDD11S833EGARP
Chromosome 11
Chromosome location 11q13.5
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]
miRNA miRNA information provided by mirtarbase database.
254
miRTarBase ID miRNA Experiments Reference
MIRT017818 hsa-miR-335-5p Microarray 18185580
MIRT438904 hsa-miR-142-3p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 23650616
MIRT438904 hsa-miR-142-3p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 23650616
MIRT438904 hsa-miR-142-3p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 23650616
MIRT438904 hsa-miR-142-3p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 23650616
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0005515 Function Protein binding IPI 19651619, 26126825, 28514442, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137207 4161 ENSG00000137507
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14392
Protein name Transforming growth factor beta activator LRRC32 (Garpin) (Glycoprotein A repetitions predominant) (GARP) (Leucine-rich repeat-containing protein 32)
Protein function Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19651619, PubMed:19750484, PubMed:22278742). Associates
PDB 6GFF , 8C7H , 8VSB , 8VSC , 8VSD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 21 48 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 49 109 Leucine rich repeat Repeat
PF13855 LRR_8 149 209 Leucine rich repeat Repeat
PF13855 LRR_8 514 573 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in regulatory T-cells (Tregs). {ECO:0000269|PubMed:18628982, ECO:0000269|PubMed:19750484, ECO:0000269|PubMed:21615933}.
Sequence
MRPQILLLLALLTLGLAAQHQDKVPCKMVDKKVSCQVLGLLQVPSVLPPDTETLDLSGNQ
LRSILASPLGFYTALRHLDLSTNEISFLQPGAFQALTHLEHLSLAHNRL
AMATALSAGGL
GPLPRVTSLDLSGNSLYSGLLERLLGEAPSLHTLSLAENSLTRLTRHTFRDMPALEQLDL
HSNVLMDIEDGAFEGLPRLTHLNLSRNSL
TCISDFSLQQLRVLDLSCNSIEAFQTASQPQ
AEFQLTWLDLRENKLLHFPDLAALPRLIYLNLSNNLIRLPTGPPQDSKGIHAPSEGWSAL
PLSAPSGNASGRPLSQLLNLDLSYNEIELIPDSFLEHLTSLCFLNLSRNCLRTFEARRLG
SLPCLMLLDLSHNALETLELGARALGSLRTLLLQGNALRDLPPYTFANLASLQRLNLQGN
RVSPCGGPDEPGPSGCVAFSGITSLRSLSLVDNEIELLRAGAFLHTPLTELDLSSNPGLE
VATGALGGLEASLEVLALQGNGLMVLQVDLPCFICLKRLNLAENRLSHLPAWTQAVSLEV
LDLRNNSFSLLPGSAMGGLETSLRRLYLQGNPL
SCCGNGWLAAQLHQGRVDVDATQDLIC
RFSSQEEVSLSHVRPEDCEKGGLKNINLIIILTFILVSAILLTTLAACCCVRRQKFNQQY
KA
Sequence length 662
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  TGF-beta signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cleft palate Likely pathogenic; Pathogenic rs369867819 RCV000735428
Cleft palate, proliferative retinopathy, and developmental delay Likely pathogenic; Pathogenic rs2120049760, rs1251757869, rs369867819 RCV001801335
RCV002221979
RCV001263102
Global developmental delay Likely pathogenic; Pathogenic rs369867819 RCV000735428
Vitreoretinopathy Likely pathogenic; Pathogenic rs369867819 RCV000735428
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Likely benign rs867566 RCV005933020
LRRC32-related disorder Likely benign; Uncertain significance rs115658755, rs1471143455, rs145077681 RCV003956656
RCV003966871
RCV003966895
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 33974229
Acute Coronary Syndrome Associate 24558424
Acute Coronary Syndrome Inhibit 24603196
Adenocarcinoma Mucinous Associate 23382860
Arthritis Infectious Associate 36275717
Asthma Associate 24388013, 30373671
Atherosclerosis Associate 29618596
Blood Coagulation Disorders Associate 33974229
Breast Neoplasms Associate 29879453
Cardiomyopathy Dilated Associate 28207945