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Aliases for ACTN4 Gene

Aliases for ACTN4 Gene

  • Actinin Alpha 4 2 3 5
  • Focal Segmental Glomerulosclerosis 1 2 3
  • Non-Muscle Alpha-Actinin 4 3 4
  • Alpha-Actinin-4 3
  • ACTININ-4 3
  • FSGS1 3
  • FSGS 3

External Ids for ACTN4 Gene

Previous HGNC Symbols for ACTN4 Gene

  • FSGS1

Previous GeneCards Identifiers for ACTN4 Gene

  • GC19P039725
  • GC19P039529
  • GC19P043814
  • GC19P043830
  • GC19P039138
  • GC19P035584

Summaries for ACTN4 Gene

Entrez Gene Summary for ACTN4 Gene

  • Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTN4 Gene

ACTN4 (Actinin Alpha 4) is a Protein Coding gene. Diseases associated with ACTN4 include Focal Segmental Glomerulosclerosis 1 and Focal Segmental Glomerulosclerosis. Among its related pathways are PAK Pathway and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is ACTN1.

UniProtKB/Swiss-Prot for ACTN4 Gene

  • F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).

Gene Wiki entry for ACTN4 Gene

Additional gene information for ACTN4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTN4 Gene

Genomics for ACTN4 Gene

GeneHancer (GH) Regulatory Elements for ACTN4 Gene

Promoters and enhancers for ACTN4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I038647 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 569.8 +12.2 12177 25.6 ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZC3H11A ACTN4 HNRNPL ZFP30 ZNF607 ZNF781 ZNF573 SUPT5H ENSG00000267152 PAK4 RN7SL566P
GH19I038645 Enhancer 0.3 dbSUPER 550.8 -1.4 -1436 0.6 ZEB1 ACTN4 MAP4K1
GH19I038673 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 33.4 +47.3 47270 42 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF548 SP3 ENSG00000267375 HNRNPL ZNF573 ZNF607 ACTN4 SUPT5H ENSG00000269688 PAF1 CAPN12 PAK4
GH19I039427 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.2 +784.5 784530 9.7 MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF416 ZNF143 SP3 NFYC RPS16 HNRNPL FBL ZNF780B AKT2 PLEKHG2 RN7SL566P SUPT5H ENSG00000269688 EID2B
GH19I039397 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.2 +759.5 759459 20 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZFP36 PLEKHG2 HNRNPL ZNF780B FBL ZNF780A SUPT5H AKT2 RN7SL566P RPS16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTN4 gene promoter:

Genomic Locations for ACTN4 Gene

Genomic Locations for ACTN4 Gene
chr19:38,647,616-38,731,583
(GRCh38/hg38)
Size:
83,968 bases
Orientation:
Plus strand
chr19:39,138,267-39,222,223
(GRCh37/hg19)

Genomic View for ACTN4 Gene

Genes around ACTN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTN4 Gene

Proteins for ACTN4 Gene

  • Protein details for ACTN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43707-ACTN4_HUMAN
    Recommended name:
    Alpha-actinin-4
    Protein Accession:
    O43707
    Secondary Accessions:
    • A4K467
    • D6PXK4
    • O76048

    Protein attributes for ACTN4 Gene

    Size:
    911 amino acids
    Molecular mass:
    104854 Da
    Quaternary structure:
    • Homodimer; antiparallel (By similarity). Binds TRIM3 at the N-terminus (By similarity). Interacts with MICALL2 (preferentially in opened conformation); stimulated by RAB13 activation (By similarity). Identified in a complex with CASK, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with BAIAP1 and PDLIM2. Interacts with PPARG and RARA. Binds to VCL; this interaction triggers VCL conformational changes (PubMed:15988023).
    SequenceCaution:
    • Sequence=AAC17470.1; Type=Frameshift; Positions=19, 26, 124, 130, 589, 594, 787, 806; Evidence={ECO:0000305}; Sequence=BAA24447.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACTN4 Gene

    Alternative splice isoforms for ACTN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTN4 Gene

Post-translational modifications for ACTN4 Gene

  • Ubiquitination at Lys181, Lys233, posLast=378378, Lys625, Lys632, and posLast=859859
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACTN4 Gene

Domains & Families for ACTN4 Gene

Gene Families for ACTN4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACTN4 Gene

Graphical View of Domain Structure for InterPro Entry

O43707

UniProtKB/Swiss-Prot:

ACTN4_HUMAN :
  • Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif that mediates interaction with nuclear receptors.
  • Belongs to the alpha-actinin family.
Domain:
  • Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif that mediates interaction with nuclear receptors.
Family:
  • Belongs to the alpha-actinin family.
genes like me logo Genes that share domains with ACTN4: view

Function for ACTN4 Gene

Molecular function for ACTN4 Gene

UniProtKB/Swiss-Prot Function:
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).

Phenotypes From GWAS Catalog for ACTN4 Gene

Gene Ontology (GO) - Molecular Function for ACTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 25411248
GO:0001882 nucleoside binding IDA 12411747
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003779 actin binding TAS 8104223
GO:0005178 integrin binding TAS 8104223
genes like me logo Genes that share ontologies with ACTN4: view
genes like me logo Genes that share phenotypes with ACTN4: view

Human Phenotype Ontology for ACTN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTN4 Gene

MGI Knock Outs for ACTN4:

miRNA for ACTN4 Gene

miRTarBase miRNAs that target ACTN4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTN4 Gene

Localization for ACTN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTN4 Gene

Nucleus. Cytoplasm. Cell junction. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Colocalizes with actin stress fibers. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC-2, and bladder cancer KU-7). {ECO:0000269 PubMed:17289661, ECO:0000269 PubMed:9508771}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTN4 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA,IDA 16502470
GO:0005622 intracellular IDA 21784188
GO:0005634 nucleus IEA,IDA 9508771
genes like me logo Genes that share ontologies with ACTN4: view

Pathways & Interactions for ACTN4 Gene

genes like me logo Genes that share pathways with ACTN4: view

SIGNOR curated interactions for ACTN4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ACTN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002576 platelet degranulation TAS --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0030050 vesicle transport along actin filament IMP 25918384
genes like me logo Genes that share ontologies with ACTN4: view

Drugs & Compounds for ACTN4 Gene

(4) Drugs for ACTN4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ACTN4: view

Transcripts for ACTN4 Gene

Unigene Clusters for ACTN4 Gene

Actinin, alpha 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTN4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1: -
SP2: -
SP3:
SP4: - - - - - - - - - - -
SP5: -
SP6:
SP7: - - - - - - - - - - - - - - - - - - - - - - -
SP8:
SP9:

ExUns: 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24
SP1: - - -
SP2:
SP3: - - -
SP4:
SP5:
SP6: - - -
SP7: - - - - - - - - - -
SP8: - -
SP9:

Relevant External Links for ACTN4 Gene

GeneLoc Exon Structure for
ACTN4
ECgene alternative splicing isoforms for
ACTN4

Expression for ACTN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACTN4 Gene

mRNA differential expression in normal tissues according to GTEx for ACTN4 Gene

This gene is overexpressed in Artery - Tibial (x4.6).

Protein differential expression in normal tissues from HIPED for ACTN4 Gene

This gene is overexpressed in Bone marrow stromal cell (9.3) and Amniocyte (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACTN4 Gene



Protein tissue co-expression partners for ACTN4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACTN4 Gene:

ACTN4

SOURCE GeneReport for Unigene cluster for ACTN4 Gene:

Hs.270291

mRNA Expression by UniProt/SwissProt for ACTN4 Gene:

O43707-ACTN4_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ACTN4 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Intestine(4)
  • Lung(4)
  • Nervous system(4)
  • Pancreas(3.8)
  • Skin(3.8)
  • Kidney(3.7)
  • Heart(2.9)
  • Eye(2.7)
  • Muscle(2.6)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Stomach(2.2)
  • Thyroid gland(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTN4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with ACTN4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ACTN4 Gene

Orthologs for ACTN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTN4 33 34
  • 99.41 (n)
oppossum
(Monodelphis domestica)
Mammalia ACTN4 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ACTN4 33 34
  • 94.51 (n)
dog
(Canis familiaris)
Mammalia ACTN4 33 34
  • 93.08 (n)
rat
(Rattus norvegicus)
Mammalia Actn4 33
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Actn4 33 16 34
  • 90.34 (n)
chicken
(Gallus gallus)
Aves ACTN1 34
  • 93 (a)
OneToMany
ACTN4 33 34
  • 86.95 (n)
lizard
(Anolis carolinensis)
Reptilia ACTN4 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actn4 33
  • 78.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ACTN4 (3 of 3) 34
  • 97 (a)
OneToMany
ACTN4 (1 of 3) 34
  • 84 (a)
OneToMany
ACTN4 (2 of 3) 34
  • 83 (a)
OneToMany
actn4 33
  • 79.32 (n)
wufb53f05 33
fruit fly
(Drosophila melanogaster)
Insecta Actn 35
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-1 34
  • 8 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06429 33
  • 50.58 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ain1 33
  • 44.86 (n)
Species where no ortholog for ACTN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ACTN4 Gene

ENSEMBL:
Gene Tree for ACTN4 (if available)
TreeFam:
Gene Tree for ACTN4 (if available)

Paralogs for ACTN4 Gene

Paralogs for ACTN4 Gene

Pseudogenes.org Pseudogenes for ACTN4 Gene

genes like me logo Genes that share paralogs with ACTN4: view

Variants for ACTN4 Gene

Sequence variations from dbSNP and Humsavar for ACTN4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1114167420 uncertain-significance, Focal segmental glomerulosclerosis 1 38,709,462(+) T/C coding_sequence_variant, missense_variant
rs112545413 benign, not specified, Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] 38,717,102(+) G/A coding_sequence_variant, missense_variant
rs1136956 benign, not specified, Focal segmental glomerulosclerosis 1 38,729,140(+) T/C coding_sequence_variant, synonymous_variant
rs11553600 benign, not specified, Focal segmental glomerulosclerosis 1 38,706,096(+) G/A coding_sequence_variant, synonymous_variant
rs121908415 pathogenic, Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] 38,710,286(+) A/G coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ACTN4 Gene

Variant ID Type Subtype PubMed ID
dgv641e199 CNV deletion 23128226
esv22820 CNV loss 19812545
esv2718535 CNV deletion 23290073
esv3329584 CNV duplication 20981092
nsv1057901 CNV gain 25217958
nsv817834 CNV gain 17921354
nsv833826 CNV loss 17160897
nsv833827 CNV gain 17160897
nsv833828 CNV loss 17160897
nsv953298 CNV deletion 24416366
nsv953299 CNV deletion 24416366

Variation tolerance for ACTN4 Gene

Residual Variation Intolerance Score: 3.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTN4 Gene

Human Gene Mutation Database (HGMD)
ACTN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTN4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTN4 Gene

Disorders for ACTN4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ACTN4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACTN4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTN4_HUMAN
  • Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:10700177, ECO:0000269 PubMed:18164029, ECO:0000269 PubMed:18436095, ECO:0000269 PubMed:22351778, ECO:0000269 PubMed:22732337, ECO:0000269 PubMed:23014460, ECO:0000269 PubMed:23890478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACTN4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACTN4: view

No data available for Genatlas for ACTN4 Gene

Publications for ACTN4 Gene

  1. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. (PMID: 10700177) Kaplan JM … Pollak MR (Nature genetics 2000) 2 3 4 22 58
  2. ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis. (PMID: 19142020) Dai S … Chen N (Nephron. Clinical practice 2009) 3 22 44 58
  3. Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. (PMID: 18164029) Lee SH … Dominguez R (Journal of molecular biology 2008) 3 4 22 58
  4. Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. (PMID: 18436095) Choi HJ … Cheong HI (American journal of kidney diseases : the official journal of the National Kidney Foundation 2008) 3 4 22 58
  5. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PMID: 17968527) Ihalmo P … FinnDiane Study Group (Diabetologia 2008) 3 22 44 58

Products for ACTN4 Gene