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 |
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. Isoforms lacking the LIM domains may negatively modulate the scaffolding activity of isofo |
PDB |
2DAR
,
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 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, 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 |
Prostate cancer |
Malignant neoplasm of prostate, Prostate carcinoma |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
19767753, 19767753, 29892016 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, 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 |
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Tel: +91-22-24192104, Fax No: +91-22-24139412 |