PDLIM7 (PDZ and LIM domain 7)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9260
Gene name PDZ and LIM domain 7
Gene symbol PDLIM7
Synonyms (NCBI Gene)
LMP1LMP3
Chromosome 5
Chromosome location 5q35.3
Summary The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development
miRNA miRNA information provided by mirtarbase database.
75
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT001351 hsa-miR-1-3p pSILAC 18668040
MIRT006185 ebv-miR-BHRF1-2-3p ImmunoprecipitaionqRT-PCRWestern blot 21379335
MIRT006185 ebv-miR-BHRF1-2-3p ImmunoprecipitaionqRT-PCRWestern blot 21379335
MIRT006185 ebv-miR-BHRF1-2-3p ImmunoprecipitaionqRT-PCRWestern blot 21379335
MIRT002914 hsa-miR-124-3p Proteomics;Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
IRF5 Repression 16140744
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IEA
GO:0001726 Component Ruffle IEA
GO:0003779 Function Actin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605903 22958 ENSG00000196923
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR12
Protein name PDZ and LIM domain protein 7 (LIM mineralization protein) (LMP) (Protein enigma)
Protein function May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved
PDB 2Q3G , 7RM8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 3 → 82 PDZ domain Domain
PF00412 LIM 282 → 337 LIM domain Domain
PF00412 LIM 341 → 396 LIM domain Domain
PF00412 LIM 400 → 457 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed ubiquitously, however, isoform 2 predominates in skeletal muscle, isoform 1 is more abundant in lung, spleen, leukocytes and fetal liver. {ECO:0000269|PubMed:11874232}.
Sequence 
MDSFKVVLEGPAPWGFRLQGGKDFNVPLSISRLTPGGKAAQAGVAVGDWVLSIDGENAGS
LTHIEAQNKIRACGERLSLGLSRAQPVQSKPQKASAPAADPPRYTFAPSVSLNKTARPFG
APPPADSAPQQNGQPLRPLVPDASKQRLMENTEDWRPRPGTGQSRSFRILAHLTGTEFMQ
DPDEEHLKKSSQVPRTEAPAPASSTPQEPWPGPTAPSPTSRPPWAVDPAFAERYAPDKTS
TVLTRHSQPATPTPLQSRTSIVQAAAGGVPGGGSNNGKTPVCHQCHKVIRGRYLVALGHA
YHPEEFVCSQCGKVLEEGGFFEEKGAIFCPPCYDVRYAPSCAKCKKKITGEIMHALKMTW
HVHCFTCAACKTPIRNRAFYMEEGVPYCERDYEKMFGTKCHGCDFKIDAGDRFLEALGFS
WHDTCFVCAICQINLEGKTFYSKKDRPLCKSHAFSHV
Sequence length 457
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytoskeleton in muscle cells   RET signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATYPICAL RETT SYNDROME — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (163)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22264774
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 21975125
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10231418, 10825150, 19002111, 9219824
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25790907, 30666658
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 10623751, 11863222, 16076866, 16109607, 16276512, 16332968, 17148591, 17854036, 18566961, 19864233, 20142802, 20876453, 21242977, 23128841, 24357706
View all (12 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 7885044
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 15603870, 19404951
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 30519816
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28935569
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 17148591
★★★★★
★☆☆☆☆
Found in Text Mining only