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LRRC32 (leucine rich repeat containing 32)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2615
Gene nameGene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 32
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LRRC32
SynonymsGene synonyms aliases
CPPRDD, D11S833E, GARP
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
SummarySummary of gene provided in NCBI Entrez Gene.
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]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017818 hsa-miR-335-5p Microarray 18185580
MIRT438904 hsa-miR-142-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 23650616
MIRT438904 hsa-miR-142-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 23650616
MIRT438904 hsa-miR-142-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 23650616
MIRT438904 hsa-miR-142-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 23650616
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0005515 Function Protein binding IPI 19651619, 26126825, 28514442
GO:0005615 Component Extracellular space IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0005887 Component Integral component of plasma membrane TAS 8180135
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MRPQILLLLALLTLGLAAQHQDKVPCKMVDKKVSCQVLGLLQVPSVLPPDTETLDLSGNQ
LRSILASPLGFYTALRHLDLSTNEISFLQPGAFQALTHLEHLSLAHNRL
AMATALSAGGL
GPLPRVTSLDLSGNSLYSGLLERLLGEAPSLHTLSLAENSLTRLTRHTFRDMPALEQLDL
HSNVLMDIEDGAFEGLPRLTHLNLSRNSL
TCISDFSLQQLRVLDLSCNSIEAFQTASQPQ
AEFQLTWLDLRENKLLHFPDLAALPRLIYLNLSNNLIRLPTGPPQDSKGIHAPSEGWSAL
PLSAPSGNASGRPLSQLLNLDLSYNEIELIPDSFLEHLTSLCFLNLSRNCLRTFEARRLG
SLPCLMLLDLSHNALETLELGARALGSLRTLLLQGNALRDLPPYTFANLASLQRLNLQGN
RVSPCGGPDEPGPSGCVAFSGITSLRSLSLVDNEIELLRAGAFLHTPLTELDLSSNPGLE
VATGALGGLEASLEVLALQGNGLMVLQVDLPCFICLKRLNLAENRLSHLPAWTQAVSLEV
LDLRNNSFSLLPGSAMGGLETSLRRLYLQGNPL
SCCGNGWLAAQLHQGRVDVDATQDLIC
RFSSQEEVSLSHVRPEDCEKGGLKNINLIIILTFILVSAILLTTLAACCCVRRQKFNQQY
KA
Sequence length 662
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  TGF-beta signaling pathway  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Uranostaphyloschisis Uranostaphyloschisis
Vitreoretinal degeneration Vitreoretinal degeneration

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