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Aliases for PDLIM3 Gene

Aliases for PDLIM3 Gene

  • PDZ And LIM Domain 3 2 3
  • ALP 3 4 6
  • Alpha-Actinin-2-Associated LIM Protein 3 4
  • Actinin-Associated LIM Protein 4
  • PDZ And LIM Domain Protein 3 3
  • Enigma Homolog 3

External Ids for PDLIM3 Gene

Previous GeneCards Identifiers for PDLIM3 Gene

  • GC04M187118
  • GC04M186798
  • GC04M186659
  • GC04M186422
  • GC04M182175

Summaries for PDLIM3 Gene

Entrez Gene Summary for PDLIM3 Gene

  • The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]

GeneCards Summary for PDLIM3 Gene

PDLIM3 (PDZ And LIM Domain 3) is a Protein Coding gene. Diseases associated with PDLIM3 include osteitis fibrosa and myotonic dystrophy. GO annotations related to this gene include cytoskeletal protein binding and structural constituent of muscle. An important paralog of this gene is PDLIM4.

UniProtKB/Swiss-Prot for PDLIM3 Gene

  • May play a role in the organization of actin filament arrays within muscle cells.

Gene Wiki entry for PDLIM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDLIM3 Gene

Genomics for PDLIM3 Gene

Regulatory Elements for PDLIM3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PDLIM3 Gene

Start:
185,500,660 bp from pter
End:
185,535,612 bp from pter
Size:
34,953 bases
Orientation:
Minus strand

Genomic View for PDLIM3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDLIM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDLIM3 Gene

Proteins for PDLIM3 Gene

  • Protein details for PDLIM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GG5-PDLI3_HUMAN
    Recommended name:
    PDZ and LIM domain protein 3
    Protein Accession:
    Q53GG5
    Secondary Accessions:
    • B2R866
    • O43590
    • O60439
    • O60440
    • Q8N6Y6
    • Q9BVP4

    Protein attributes for PDLIM3 Gene

    Size:
    364 amino acids
    Molecular mass:
    39232 Da
    Quaternary structure:
    • Interacts with ACTN2.

    Alternative splice isoforms for PDLIM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDLIM3 Gene

Proteomics data for PDLIM3 Gene at MOPED

Post-translational modifications for PDLIM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDLIM3 Gene

Domains for PDLIM3 Gene

Protein Domains for PDLIM3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PDLIM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53GG5

UniProtKB/Swiss-Prot:

PDLI3_HUMAN :
  • Q53GG5
Domain:
  • Contains 1 LIM zinc-binding domain.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with PDLIM3: view

No data available for Gene Families for PDLIM3 Gene

Function for PDLIM3 Gene

Molecular function for PDLIM3 Gene

UniProtKB/Swiss-Prot Function: May play a role in the organization of actin filament arrays within muscle cells.

Gene Ontology (GO) - Molecular Function for PDLIM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23414517
GO:0008092 cytoskeletal protein binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0008307 structural constituent of muscle IEA --
genes like me logo Genes that share ontologies with PDLIM3: view
genes like me logo Genes that share phenotypes with PDLIM3: view

Animal Models for PDLIM3 Gene

MGI Knock Outs for PDLIM3:

Animal Model Products

CRISPR Products

miRNA for PDLIM3 Gene

miRTarBase miRNAs that target PDLIM3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PDLIM3 Gene

Localization for PDLIM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDLIM3 Gene

Cytoplasm, myofibril, sarcomere, Z line. Note=Localizes to myofiber Z-lines.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDLIM3 Gene COMPARTMENTS Subcellular localization image for PDLIM3 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDLIM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0015629 actin cytoskeleton IEA --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with PDLIM3: view

Pathways for PDLIM3 Gene

SuperPathways for PDLIM3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDLIM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with PDLIM3: view

No data available for Pathways by source for PDLIM3 Gene

Compounds for PDLIM3 Gene

(2) Novoseek inferred chemical compound relationships for PDLIM3 Gene

Compound -log(P) Hits PubMed IDs
creatinine 7.74 4
calcium 0 5
genes like me logo Genes that share compounds with PDLIM3: view

Transcripts for PDLIM3 Gene

Unigene Clusters for PDLIM3 Gene

PDZ and LIM domain 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDLIM3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PDLIM3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDLIM3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - - - - -
SP2: - - - - - - -
SP3: -
SP4: - - - - - -
SP5: - -
SP6: -
SP7:
SP8:

Relevant External Links for PDLIM3 Gene

GeneLoc Exon Structure for
PDLIM3
ECgene alternative splicing isoforms for
PDLIM3

Expression for PDLIM3 Gene

mRNA expression in normal human tissues for PDLIM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDLIM3 Gene

This gene is overexpressed in Muscle - Skeletal (20.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDLIM3 Gene

SOURCE GeneReport for Unigene cluster for PDLIM3 Gene Hs.701364

mRNA Expression by UniProt/SwissProt for PDLIM3 Gene

Q53GG5-PDLI3_HUMAN
Tissue specificity: Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific.
genes like me logo Genes that share expressions with PDLIM3: view

In Situ Assay Products

Orthologs for PDLIM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDLIM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDLIM3 35
  • 99.36 (n)
  • 99.73 (a)
PDLIM3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDLIM3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDLIM3 35
  • 91.03 (n)
  • 93.41 (a)
PDLIM3 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdlim3 16
Pdlim3 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDLIM3 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDLIM3 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdlim3 35
  • 86.56 (n)
  • 91.99 (a)
chicken
(Gallus gallus)
Aves PDLIM3 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDLIM3 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13894 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7312 35
zebrafish
(Danio rerio)
Actinopterygii pdlim3a 36
  • 52 (a)
OneToMany
pdlim3b 36
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3882 36
  • 20 (a)
ManyToMany
Species with no ortholog for PDLIM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDLIM3 Gene

ENSEMBL:
Gene Tree for PDLIM3 (if available)
TreeFam:
Gene Tree for PDLIM3 (if available)

Paralogs for PDLIM3 Gene

Paralogs for PDLIM3 Gene

Selected SIMAP similar genes for PDLIM3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PDLIM3: view

Variants for PDLIM3 Gene

Sequence variations from dbSNP and Humsavar for PDLIM3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1840 -- 185,508,820(+) TGTTT(C/T)ACTAG intron-variant
rs8315 -- 185,502,282(-) GCAGG(C/T)GTGGC utr-variant-3-prime, nc-transcript-variant
rs13808 -- 185,501,998(-) ACAGC(C/T)ATCAA utr-variant-3-prime, nc-transcript-variant
rs754837 -- 185,513,936(+) CAGGG(C/T)TTTCC intron-variant
rs1055702 -- 185,502,339(-) ACAAA(A/G)CCCCC synonymous-codon, reference, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PDLIM3 Gene

Variant ID Type Subtype PubMed ID
nsv881506 CNV Gain 21882294
dgv1724e1 CNV Complex 17122850
nsv527026 CNV Gain 19592680
nsv517035 CNV Gain+Loss 19592680
nsv4639 CNV Loss 18451855
nsv508339 CNV Loss 20534489
nsv511267 CNV Loss 21212237
esv2430031 CNV Deletion 19546169
nsv10624 CNV Gain 18304495
esv2068423 CNV Deletion 18987734
nsv513187 CNV Loss 21212237
dgv915n67 CNV Loss 20364138
nsv821047 CNV Deletion 20802225
esv2728910 CNV Deletion 23290073
esv4371 CNV Deletion 18987735
dgv134e180 CNV Deletion 20482838
esv28251 CNV Gain 19812545
esv2657042 CNV Deletion 23128226
nsv499814 CNV Loss 21111241
esv9232 CNV Loss 19470904
nsv830169 CNV Gain+Loss 17160897

Relevant External Links for PDLIM3 Gene

HapMap Linkage Disequilibrium report
PDLIM3
Human Gene Mutation Database (HGMD)
PDLIM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDLIM3 Gene

Disorders for PDLIM3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for PDLIM3 Gene including...

Search for PDLIM3 Gene in MalaCards »

(1) University of Copenhagen DISEASES for PDLIM3 Gene

(7) Novoseek inferred disease relationships for PDLIM3 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy facioscapulohumeral 73.7 1
osteitis fibrosa 68 1
paroxysmal atrial fibrillation 41.2 1
myopathy 40.1 3
bone diseases 36.3 1

Relevant External Links for PDLIM3

Genetic Association Database (GAD)
PDLIM3
Human Genome Epidemiology (HuGE) Navigator
PDLIM3
genes like me logo Genes that share disorders with PDLIM3: view

No data available for UniProtKB/Swiss-Prot for PDLIM3 Gene

Publications for PDLIM3 Gene

  1. Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes. (PMID: 10063829) Bouju S. … Dechesne C.A. (Neuromuscul. Disord. 1999) 2 3 4 23
  2. Novel gene transcripts preferentially expressed in human muscles revealed by quantitative hybridization of a high density cDNA array. (PMID: 8828038) PiActu G. … Auffray C. (Genome Res. 1996) 2 3
  3. Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. (PMID: 9334352) Xia H. … Bredt D.S. (J. Cell Biol. 1997) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 19412328) Hershberger R.E. … Litt M. (Clin Transl Sci 2008) 3 48

Products for PDLIM3 Gene

Sources for PDLIM3 Gene

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