Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10611
Gene name Gene Name - the full gene name approved by the HGNC.
PDZ and LIM domain 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDLIM5
Synonyms (NCBI Gene) Gene synonyms aliases
ENH, ENH1, L9, LIM
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001527 hsa-miR-155-5p pSILAC 18668040
MIRT001527 hsa-miR-155-5p Western blot 20584899
MIRT032035 hsa-miR-16-5p Proteomics 18668040
MIRT051014 hsa-miR-17-5p CLASH 23622248
MIRT438719 hsa-miR-133a-3p Luciferase reporter assay, qRT-PCR, Western blot 23968734
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding ISS
GO:0005080 Function Protein kinase C binding ISS
GO:0005515 Function Protein binding IPI 16549780, 25416956, 31515488, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605904 17468 ENSG00000163110
Protein
UniProt ID Q96HC4
Protein name PDZ and LIM domain protein 5 (Enigma homolog) (Enigma-like PDZ and LIM domains protein)
Protein function May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Isoforms lacking the LIM domains may negatively modulate the scaffolding activity of isofo
PDB 2DAR , 2UZC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 4 82 PDZ domain Domain
PF15936 DUF4749 213 305 Domain of unknown function (DUF4749) Family
PF00412 LIM 420 475 LIM domain Domain
PF00412 LIM 479 534 LIM domain Domain
PF00412 LIM 538 594 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Heart and skeletal muscle specific. Expression is commonly increased in the brain of patients with bipolar disorder, schizophrenia, and major depression. {ECO:0000269|PubMed:10429367, ECO:0000269|PubMed:16044170, ECO:0000269|PubMed:162
Sequence
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQG
MTHLEAQNKIKGCTGSLNMTLQ
RASAAPKPEPVPVQKGEPKEVVKPVPITSPAVSKVTST
NNMAYNKAPRPFGSVSSPKVTSIPSPSSAFTPAHATTSSHASPSPVAAVTPPLFAASGLH
ANANLSADQSPSALSAGKTAVNVPRQPTVTSVCSETSQELAEGQRRGSQGDSKQQNGPPR
KHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEA
DNTKK
ANNSQEPSPQLASSVASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKS
PSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMC
AHCNQVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFF
APECG
RCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETDYYALF
GTICHG
CEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSV
NF
Sequence length 596
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytoskeleton in muscle cells  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Lewy Body Disease Lewy body disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 19448850, 23031404
Breast Neoplasms Associate 12571245, 17211471, 17956604, 20461080, 24980827, 25982273, 27588391
Carcinoma Hepatocellular Associate 20876702, 22897902
Carcinoma Non Small Cell Lung Associate 36621614
Carcinoma Renal Cell Associate 24955835
Cardiomyopathy Dilated Associate 31424159, 31880413
Chondrosarcoma Associate 35507100
Chordoma Associate 35507100
Colorectal Neoplasms Inhibit 19307596
Colorectal Neoplasms Associate 27156963