PDLIM5 (PDZ and LIM domain 5)

2003-05-01  

Identity

HGNC
LOCATION
4q22.3
LOCUSID
ALIAS
ENH,ENH1,L9,LIM
FUSION GENES

Other Information

Locus ID:

NCBI: 10611
MIM: 605904
HGNC: 17468
Ensembl: ENSG00000163110

Variants:

dbSNP: 10611
ClinVar: 10611
TCGA: ENSG00000163110
COSMIC: PDLIM5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163110ENST00000317968Q96HC4
ENSG00000163110ENST00000318007Q96HC4
ENSG00000163110ENST00000359265Q96HC4
ENSG00000163110ENST00000380180Q96HC4
ENSG00000163110ENST00000437932A0A0A0MSP3
ENSG00000163110ENST00000503974Q96HC4
ENSG00000163110ENST00000504489D6RAA1
ENSG00000163110ENST00000506632H0Y8Y3
ENSG00000163110ENST00000508216Q96HC4
ENSG00000163110ENST00000509357H0Y929
ENSG00000163110ENST00000510099A0A0D9SFR4
ENSG00000163110ENST00000512274D6RGG6
ENSG00000163110ENST00000513341H0YBI4
ENSG00000163110ENST00000514743Q96HC4
ENSG00000163110ENST00000542407Q96HC4
ENSG00000163110ENST00000615540Q96HC4
ENSG00000163110ENST00000627587A0A0D9SFW3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
340695392021Mechanical Sensing Element PDLIM5 Promotes Osteogenesis of Human Fibroblasts by Affecting the Activity of Microfilaments.4
340695392021Mechanical Sensing Element PDLIM5 Promotes Osteogenesis of Human Fibroblasts by Affecting the Activity of Microfilaments.4
318804132020Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.9
327371992020PDLIM5 inhibits STUB1-mediated degradation of SMAD3 and promotes the migration and invasion of lung cancer cells.18
318804132020Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.9
327371992020PDLIM5 inhibits STUB1-mediated degradation of SMAD3 and promotes the migration and invasion of lung cancer cells.18
314241592019Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line proteins increase risk of idiopathic dilated cardiomyopathy.19
314241592019Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line proteins increase risk of idiopathic dilated cardiomyopathy.19
295741542018PDLIM5 identified by label-free quantitative proteomics as a potential novel biomarker of papillary thyroid carcinoma.15
304048262018Enigma proteins regulate YAP mechanotransduction.29
295741542018PDLIM5 identified by label-free quantitative proteomics as a potential novel biomarker of papillary thyroid carcinoma.15
304048262018Enigma proteins regulate YAP mechanotransduction.29
276939792017Polymorphisms in PDLIM5 gene are associated with alcohol dependence, type 2 diabetes, and hypertension.8
280450352017PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.5
281391192017Proteomic Analysis of Human Pluripotent Stem Cell Cardiomyogenesis Revealed Altered Expression of Metabolic Enzymes and PDLIM5 Isoforms.10

Citation

Dessen P

PDLIM5 (PDZ and LIM domain 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41157/pdlim5