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 ... See more...

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 4
  • ACTININ-4 3
  • FSGS1 3
  • ACTN4 5
  • 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 Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is ACTN1.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTN4 Gene

Genomics for ACTN4 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH19J038647 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 619.8 +12.1 12143 25.6 ZNF221 SP1 HNRNPL CREB1 GATAD2A ZBTB33 ATF7 TEAD4 PRDM10 REST ACTN4 HNRNPL ZFP30 ZNF607 ZNF781 ZNF573 SUPT5H ENSG00000267152 PAK4 RN7SL566P
GH19J038645 Enhancer 0.3 dbSUPER 600.7 -1.5 -1469 0.6 ZEB1 ACTN4 RF00017-2970 EIF3K
GH19J038673 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 33.5 +47.9 47899 43.3 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TEAD4 PRDM10 REST ENSG00000267375 ZNF573 HNRNPL ZNF607 ACTN4 SUPT5H PAF1 CAPN12 PAK4 ENSG00000267152
GH19J039397 Promoter/Enhancer 3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 +759.4 759426 20 ZNF221 BRCA1 RNF2 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF PAF1 ZFP36 5EW4_A-029 MG828566 HNRNPL ZNF780B SUPT5H ZNF780A FBL AKT2
GH19J039427 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 +784.8 784767 10 ARHGAP35 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 RFX1 RPS16 HNRNPL ZNF780B AKT2 FBL SUPT5H PLEKHG2 RN7SL566P EID2B ZNF780A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTN4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTN4

Top Transcription factor binding sites by QIAGEN in the ACTN4 gene promoter:
  • ATF-2
  • c-Jun
  • CUTL1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for ACTN4 Gene

Genomic Locations for ACTN4 Gene
chr19:38,647,649-38,731,589
(GRCh38/hg38)
Size:
83,941 bases
Orientation:
Plus strand
chr19:39,138,267-39,222,223
(GRCh37/hg19)
Size:
83,957 bases
Orientation:
Plus strand

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; Evidence={ECO:0000305}; Sequence=BAA24447.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform ACTN4ISO]: Does not colocalize with actin cytoskeleton structures.

    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, Lys625, Lys632, and Lys859
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Protein Domains for ACTN4 Gene

InterPro:
Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
ProtoNet:

Suggested Antigen Peptide Sequences for ACTN4 Gene

GenScript: Design optimal peptide antigens:
  • Actinin alpha4 isoform (A4K467_HUMAN)
  • Non-muscle alpha-actinin 4 (ACTN4_HUMAN)
  • ACTN4 protein (Q96BG6_HUMAN)

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:0003713 transcription coactivator activity IMP 25411248
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin 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:
  • Actn4 Actn4<tm1a(EUCOMM)Wtsi>
  • Actn4 Actn4<tm1Plk>

Animal Model Products

CRISPR Products

miRNA for ACTN4 Gene

miRTarBase miRNAs that target ACTN4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTN4

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. Cytoplasm, cytoskeleton, stress fiber. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. 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
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Actin filaments (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 16502470
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 9508771
genes like me logo Genes that share ontologies with ACTN4: view

Pathways & Interactions for ACTN4 Gene

PathCards logo

SuperPathways for ACTN4 Gene

SuperPathway Contained pathways
1 Response to elevated platelet cytosolic Ca2+
2 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
.36
3 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.37
4 Cytoskeletal Signaling
5 Adherens junction
genes like me logo Genes that share pathways with ACTN4: view

Pathways by source for ACTN4 Gene

6 GeneGo (Thomson Reuters) pathways for ACTN4 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling
6 Qiagen pathways for ACTN4 Gene
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • ILK Signaling
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for ACTN4 Gene

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:0015031 protein transport IEA --
GO:0030050 vesicle transport along actin filament IMP 25918384
GO:0030335 positive regulation of cell migration 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

mRNA/cDNA for ACTN4 Gene

2 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTN4

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

Expression for ACTN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ACTN4 Gene



Protein tissue co-expression partners for ACTN4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Liver(4.7)
  • Blood(4.7)
  • Intestine(4.3)
  • Nervous system(4.2)
  • Pancreas(4.2)
  • Skin(4.1)
  • Lung(4.1)
  • Kidney(3.9)
  • Heart(3.5)
  • Muscle(3.3)
  • Eye(3.2)
  • Spleen(2.9)
  • Stomach(2.8)
  • Lymph node(2.7)
  • Thyroid gland(2.6)
  • Bone marrow(2.6)
  • Adrenal gland(2.6)
  • Bone(2.4)
  • Gall bladder(2)
  • Urine(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 30 31
  • 99.41 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACTN4 31
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ACTN4 30 31
  • 94.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTN4 30 31
  • 93.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actn4 30
  • 90.78 (n)
Mouse
(Mus musculus)
Mammalia Actn4 30 17 31
  • 90.34 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ACTN1 31
  • 93 (a)
OneToMany
ACTN4 30 31
  • 86.95 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ACTN4 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia actn4 30
  • 78.36 (n)
Zebrafish
(Danio rerio)
Actinopterygii ACTN4 (3 of 3) 31
  • 97 (a)
OneToMany
ACTN4 (1 of 3) 31
  • 84 (a)
OneToMany
ACTN4 (2 of 3) 31
  • 83 (a)
OneToMany
actn4 30
  • 79.32 (n)
wufb53f05 30
Fruit Fly
(Drosophila melanogaster)
Insecta Actn 32
  • 67 (a)
Worm
(Caenorhabditis elegans)
Secernentea sma-1 31
  • 8 (a)
ManyToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06429 30
  • 50.58 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ain1 30
  • 44.86 (n)
Species where no ortholog for ACTN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTN4: view image

Paralogs for ACTN4 Gene

(17) SIMAP similar genes for ACTN4 Gene using alignment to 6 proteins:

  • ACTN4_HUMAN
  • F5GXS2_HUMAN
  • H7C144_HUMAN
  • K7EJH8_HUMAN
  • K7EP19_HUMAN
  • Q96BG6_HUMAN

Pseudogenes.org Pseudogenes for ACTN4 Gene

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

Variants for ACTN4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTN4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
635450 Uncertain Significance: Focal segmental glomerulosclerosis 1 38,714,481(+) G/A MISSENSE_VARIANT
710144 Benign: not provided 38,718,001(+) C/A SYNONYMOUS_VARIANT
723279 Likely Benign: not provided 38,729,269(+) C/T INTRON_VARIANT
725444 Benign: not provided 38,721,587(+) G/A SYNONYMOUS_VARIANT
730072 Likely Benign: not provided 38,706,051(+) G/A SYNONYMOUS_VARIANT
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