PDLIM5 (PDZ and LIM domain 5)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10611 |
Gene nameGene Name - the full gene name approved by the HGNC.
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PDZ and LIM domain 5 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PDLIM5 |
SynonymsGene synonyms aliases
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ENH, ENH1, L9, LIM |
ChromosomeChromosome number
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4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity). |
PDB |
2DAR
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2UZC
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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 |
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Sequence |
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Sequence length |
596 |
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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
18021463, 16213469, 17287082, 24064681 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Prostate cancer |
Malignant neoplasm of prostate, Prostate carcinoma |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
19767753, 29892016 |
Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs-1, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
27114598 |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
rs200046052 |
20512145 |
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