Gene Gene information from NCBI Gene database.
Entrez ID 8572
Gene name PDZ and LIM domain 4
Gene symbol PDLIM4
Synonyms (NCBI Gene)
RIL
Chromosome 5
Chromosome location 5q31.1
Summary This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]
miRNA miRNA information provided by mirtarbase database.
35
miRTarBase ID miRNA Experiments Reference
MIRT018921 hsa-miR-335-5p Microarray 18185580
MIRT1222217 hsa-miR-125a-5p CLIP-seq
MIRT1222218 hsa-miR-125b CLIP-seq
MIRT1222219 hsa-miR-3653 CLIP-seq
MIRT1222220 hsa-miR-3658 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 21636573
GO:0003779 Function Actin binding IBA
GO:0005515 Function Protein binding IPI 10826496, 19307596, 21636573, 32296183
GO:0005634 Component Nucleus IDA 10826496, 21636573
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603422 16501 ENSG00000131435
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P50479
Protein name PDZ and LIM domain protein 4 (LIM protein RIL) (Reversion-induced LIM protein)
Protein function [Isoform 1]: Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiatio
PDB 2EEG , 2V1W , 4Q2O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 4 81 PDZ domain Domain
PF15936 DUF4749 147 228 Domain of unknown function (DUF4749) Family
PF00412 LIM 255 309 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Found in brain. {ECO:0000269|PubMed:9573374}.
Sequence
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 risk factor rs453602 RCV000006720
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 23031404
Bone Marrow Diseases Associate 30578378
Breast Neoplasms Associate 17764565, 22695491, 36936167, 38235137
Carcinoma Renal Cell Associate 20154727
Colorectal Neoplasms Associate 19307596
Epstein Barr Virus Infections Associate 40116629
Fractures Bone Associate 30578378
Glioblastoma Associate 35456975
Leukemia Myelogenous Chronic BCR ABL Positive Associate 21760961
Lymphatic Metastasis Associate 20642860