Gene id |
2615 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
LRRC32 Gene UCSC Ensembl |
Aliases |
D11S833E, GARP |
Gene name |
leucine rich repeat containing 32 |
Alternate names |
transforming growth factor beta activator LRRC32, garpin, glycoprotein A repetitions predominant, leucine-rich repeat-containing protein 32, |
Gene location |
11q13.5 (76670746: 76657523) Exons: 16 NC_000011.10
|
Gene summary(Entrez) |
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]
|
OMIM |
137207 |
Protein Summary
|
Protein general information
| Q14392
Name: Transforming growth factor beta activator LRRC32 (Garpin) (Glycoprotein A repetitions predominant) (GARP) (Leucine rich repeat containing protein 32)
Length: 662 Mass: 71979
Tissue specificity: Preferentially expressed in regulatory T-cells (Tregs). {ECO
|
Sequence |
MRPQILLLLALLTLGLAAQHQDKVPCKMVDKKVSCQVLGLLQVPSVLPPDTETLDLSGNQLRSILASPLGFYTAL RHLDLSTNEISFLQPGAFQALTHLEHLSLAHNRLAMATALSAGGLGPLPRVTSLDLSGNSLYSGLLERLLGEAPS LHTLSLAENSLTRLTRHTFRDMPALEQLDLHSNVLMDIEDGAFEGLPRLTHLNLSRNSLTCISDFSLQQLRVLDL SCNSIEAFQTASQPQAEFQLTWLDLRENKLLHFPDLAALPRLIYLNLSNNLIRLPTGPPQDSKGIHAPSEGWSAL PLSAPSGNASGRPLSQLLNLDLSYNEIELIPDSFLEHLTSLCFLNLSRNCLRTFEARRLGSLPCLMLLDLSHNAL ETLELGARALGSLRTLLLQGNALRDLPPYTFANLASLQRLNLQGNRVSPCGGPDEPGPSGCVAFSGITSLRSLSL VDNEIELLRAGAFLHTPLTELDLSSNPGLEVATGALGGLEASLEVLALQGNGLMVLQVDLPCFICLKRLNLAENR LSHLPAWTQAVSLEVLDLRNNSFSLLPGSAMGGLETSLRRLYLQGNPLSCCGNGWLAAQLHQGRVDVDATQDLIC RFSSQEEVSLSHVRPEDCEKGGLKNINLIIILTFILVSAILLTTLAACCCVRRQKFNQQYKA
|
Structural information |
|
Other Databases |
GeneCards: LRRC32 Malacards: LRRC32 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0031012 |
extracellular matrix
|
IBA |
cellular component |
GO:0005615 |
extracellular space
|
IBA |
cellular component |
GO:0050431 |
transforming growth facto r beta binding
|
IDA |
molecular function |
GO:1901388 |
regulation of transformin g growth factor beta acti vation
|
IDA |
biological process |
GO:1901388 |
regulation of transformin g growth factor beta acti vation
|
IDA |
biological process |
GO:1901388 |
regulation of transformin g growth factor beta acti vation
|
IDA |
biological process |
GO:0007179 |
transforming growth facto r beta receptor signaling pathway
|
IDA |
biological process |
GO:0009986 |
cell surface
|
IDA |
cellular component |
GO:0009986 |
cell surface
|
IDA |
cellular component |
GO:0050431 |
transforming growth facto r beta binding
|
IPI |
molecular function |
GO:0050431 |
transforming growth facto r beta binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0062009 |
secondary palate developm ent
|
ISS |
biological process |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0019838 |
growth factor binding
|
IEA |
molecular function |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005887 |
integral component of pla sma membrane
|
TAS |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0010628 |
positive regulation of ge ne expression
|
IEA |
biological process |
GO:0046007 |
negative regulation of ac tivated T cell proliferat ion
|
IEA |
biological process |
GO:0050431 |
transforming growth facto r beta binding
|
IEA |
molecular function |
GO:0050710 |
negative regulation of cy tokine secretion
|
IEA |
biological process |
GO:0062009 |
secondary palate developm ent
|
IEA |
biological process |
GO:1901398 |
regulation of transformin g growth factor beta3 act ivation
|
IEA |
biological process |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0009986 |
cell surface
|
IEA |
cellular component |
GO:0005654 |
nucleoplasm
|
IDA |
cellular component |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|