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Aliases for ACTB Gene

Aliases for ACTB Gene

  • Actin Beta 2 3 5
  • PS1TP5-Binding Protein 1 3
  • Beta Cytoskeletal Actin 3
  • Actin, Cytoplasmic 1 3
  • Beta-Actin 4
  • PS1TP5BP1 3
  • BRWS1 3

External Ids for ACTB Gene

Previous GeneCards Identifiers for ACTB Gene

  • GC07M005211
  • GC07M005311
  • GC07M005340
  • GC07M005533
  • GC07M005479
  • GC07M005566

Summaries for ACTB Gene

Entrez Gene Summary for ACTB Gene

  • This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

GeneCards Summary for ACTB Gene

ACTB (Actin Beta) is a Protein Coding gene. Diseases associated with ACTB include Dystonia, Juvenile-Onset and Baraitser-Winter Syndrome 1. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Development Slit-Robo signaling. GO annotations related to this gene include identical protein binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ACTG1.

UniProtKB/Swiss-Prot for ACTB Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Tocris Summary for ACTB Gene

  • Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.

Gene Wiki entry for ACTB Gene

Additional gene information for ACTB Gene

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

Genomics for ACTB Gene

Regulatory Elements for ACTB Gene

Enhancers for ACTB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H005687 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -130.9 -130943 15 HDGF PKNOX1 SIN3A FEZF1 YY1 TCF12 ELK1 ZNF143 FOS ATF7 USP42 TNRC18 RNF216P1 C7orf26 ACTB ZNF316 RBAK FBXL18 MIR589 FSCN1
GH07H005632 1.8 VISTA Ensembl ENCODE dbSUPER 12.5 -72.5 -72519 8 PKNOX1 ETS1 SCRT2 FOS RCOR1 EGR2 ZNF362 REST NR2F2 ZNF341 ACTB FBXL18 MIR589 C7orf26 USP42 ANKRD61 ZNF815P EIF2AK1 RNF216-IT1 FSCN1
GH07H005676 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -115.9 -115865 6 RAD21 ZNF143 RCOR1 ETV6 RUNX3 CREM IKZF2 ZNF654 ELF1 REST ACTB FBXL18 FSCN1 MIR589 ZNF815P USP42 RNF216-IT1
GH07H005702 1.4 Ensembl ENCODE dbSUPER 12.6 -140.2 -140157 2 ELF3 HDGF FOXA2 RB1 ARNT ARID4B RAD21 RFX5 YY1 ZNF143 FBXL18 MIR589 ACTB FSCN1 MIR6874 RNF216-IT1
GH07H005665 1.2 Ensembl ENCODE dbSUPER 13 -101.7 -101717 0 CTCF ZNF654 SAP130 ARNT TRIM22 ARID4B REST RAD21 ZNF592 CC2D1A ACTB FSCN1 FBXL18 MIR589 TNRC18 LOC100129484 RNF216-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACTB on UCSC Golden Path with GeneCards custom track

Promoters for ACTB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000324681 84 201 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF121 GLIS2 CBX5 ZNF207 ZNF143
ENSR00000324680 884 601 ATF1 SIN3A FOS KLF7 SP3 MXD4 REST SSRP1 MAFF SMARCA4
ENSR00000208108 1684 201 ELF3 ATF1 MLX SREBF2 ARID4B SIN3A ZNF76 ZBTB40 ETS1 ZNF143

Genomic Location for ACTB Gene

Chromosome:
7
Start:
5,527,148 bp from pter
End:
5,563,784 bp from pter
Size:
36,637 bases
Orientation:
Minus strand

Genomic View for ACTB Gene

Genes around ACTB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ACTB Gene

Proteins for ACTB Gene

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

    Protein Symbol:
    P60709-ACTB_HUMAN
    Recommended name:
    Actin, cytoplasmic 1
    Protein Accession:
    P60709
    Secondary Accessions:
    • P02570
    • P70514
    • P99021
    • Q11211
    • Q64316
    • Q75MN2
    • Q96B34
    • Q96HG5

    Protein attributes for ACTB Gene

    Size:
    375 amino acids
    Molecular mass:
    41737 Da
    Quaternary structure:
    • Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain) (By similarity). Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Component of the MLL5-L complex, at least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM. Interacts with TBC1D21 (By similarity).
    Miscellaneous:
    • In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

    Three dimensional structures from OCA and Proteopedia for ACTB Gene

neXtProt entry for ACTB Gene

Post-translational modifications for ACTB Gene

  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • ISGylated.
  • Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
  • Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTB Gene

Assay Products

No data available for DME Specific Peptides for ACTB Gene

Domains & Families for ACTB Gene

Gene Families for ACTB Gene

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

Protein Domains for ACTB Gene

Graphical View of Domain Structure for InterPro Entry

P60709

UniProtKB/Swiss-Prot:

ACTB_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTB: view

Function for ACTB Gene

Molecular function for ACTB Gene

GENATLAS Biochemistry:
actin,beta,cytoplasmic,major constituent of microfilaments
UniProtKB/Swiss-Prot Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Gene Ontology (GO) - Molecular Function for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0005200 structural constituent of cytoskeleton TAS 6202424
GO:0005515 protein binding IPI 11682052
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACTB: view
genes like me logo Genes that share phenotypes with ACTB: view

Human Phenotype Ontology for ACTB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTB Gene

MGI Knock Outs for ACTB:
  • Actb tm1Alj
  • Actb tm1.1(tetO-COP4*/EYFP)Kftnk
  • Actb tm2.1Npa

Animal Model Products

CRISPR Products

miRNA for ACTB Gene

miRTarBase miRNAs that target ACTB

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTB
  • Applied Biological Materials Clones for ACTB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ACTB Gene

Localization for ACTB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTB Gene

Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.

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 ACTB gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16217013
GO:0005615 extracellular space IDA 16502470
GO:0005634 nucleus IDA 11687588
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 16130169
genes like me logo Genes that share ontologies with ACTB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTB Gene

Pathways & Interactions for ACTB Gene

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

Pathways by source for ACTB Gene

Gene Ontology (GO) - Biological Process for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP 23580065
GO:0006928 movement of cell or subcellular component TAS 6202424
GO:0016579 protein deubiquitination TAS --
GO:0021762 substantia nigra development IEP 22926577
GO:0034329 cell junction assembly TAS --
genes like me logo Genes that share ontologies with ACTB: view

No data available for SIGNOR curated interactions for ACTB Gene

Drugs & Compounds for ACTB Gene

(10) Drugs for ACTB Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0
Quercetin Experimental Nutra Target Antitumor agent 41
Phenethyl isothiocyanate Investigational Pharma Target 12
Cytochalasin D Pharma inhibitor of actin polymerization, selective, Disrupts actin filament function 0
Jasplakinolide Pharma Stabilizes F-actin; promotes actin polymerization 0

(3) Additional Compounds for ACTB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytochalasin B
14930-96-2
Thymosin beta4
77591-33-4

(5) Tocris Compounds for ACTB Gene

Compound Action Cas Number
Cytochalasin B Inhibitor of actin polymerization 14930-96-2
Cytochalasin D Disrupts actin filament function 22144-77-0
Jasplakinolide Stabilizes F-actin; promotes actin polymerization 102396-24-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Thymosin beta4 Potent actin polymerization regulator 77591-33-4

(8) ApexBio Compounds for ACTB Gene

Compound Action Cas Number
CK 666 442633-00-3
CK 869 388592-44-7
Cytochalasin D inhibitor of actin polymerization, selective 22144-77-0
Jasplakinolide 102396-24-7
Latrunculin A 76343-93-6
Phalloidin 17466-45-4
SMIFH2 340316-62-3
Wiskostatin 253449-04-6
genes like me logo Genes that share compounds with ACTB: view

Drug Products

Transcripts for ACTB Gene

Unigene Clusters for ACTB Gene

Actin, beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTB
  • Applied Biological Materials Clones for ACTB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - - - -
SP9:
SP10: -

Relevant External Links for ACTB Gene

GeneLoc Exon Structure for
ACTB
ECgene alternative splicing isoforms for
ACTB

Expression for ACTB Gene

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

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

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for ACTB Gene

This gene is overexpressed in Neutrophil (11.1), Tlymphocyte (8.7), and Lavage (7.7).

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



NURSA nuclear receptor signaling pathways regulating expression of ACTB Gene:

ACTB

SOURCE GeneReport for Unigene cluster for ACTB Gene:

Hs.520640

Evidence on tissue expression from TISSUES for ACTB Gene

  • Blood(5)
  • Eye(5)
  • Intestine(5)
  • Kidney(5)
  • Liver(5)
  • Lung(5)
  • Pancreas(5)
  • Skin(5)
  • Stomach(5)
  • Nervous system(5)
  • Muscle(4.9)
  • Spleen(4.9)
  • Thyroid gland(4.9)
  • Bone(4.8)
  • Heart(4.8)
  • Bone marrow(3.6)
  • Lymph node(3.6)
  • Adrenal gland(3.4)
  • Gall bladder(3.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
Thorax:
  • aorta
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACTB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ACTB Gene

Orthologs for ACTB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTB Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia ACTB 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTB 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTB 33 34
  • 99.47 (n)
-- 34
  • 46 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ACTB 33 34
  • 93.78 (n)
cow
(Bos Taurus)
Mammalia ACTB 34 33
  • 93.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actb 33
  • 92.44 (n)
mouse
(Mus musculus)
Mammalia Actb 16 34 33
  • 91.91 (n)
chicken
(Gallus gallus)
Aves gga-mir-3533 34
  • 100 (a)
OneToOne
ACTB 33
  • 88.27 (n)
lizard
(Anolis carolinensis)
Reptilia ACTB 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actb 33
  • 81.6 (n)
zebrafish
(Danio rerio)
Actinopterygii actb1 34
  • 99 (a)
ManyToMany
bactin2 33
fruit fly
(Drosophila melanogaster)
Insecta Act5C 35
  • 98 (a)
Act42A 35
  • 97 (a)
Act88F 35
  • 95 (a)
Act57B 34 35
  • 95 (a)
ManyToMany
Act79B 35
  • 94 (a)
Act87E 33 35
  • 85.12 (n)
Arp53D 35
  • 64 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005095 33
  • 84.49 (n)
worm
(Caenorhabditis elegans)
Secernentea act-2 35 34
  • 98 (a)
act-1 35
  • 97 (a)
act-3 35
  • 97 (a)
act-5 35
  • 93 (a)
F42C5.9 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACT1 34 36
  • 89 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os05g0438800 33
  • 73.8 (n)
Os.3420 33
barley
(Hordeum vulgare)
Liliopsida Hv.8296 33
corn
(Zea mays)
Liliopsida Zm.6944 33
sea squirt
(Ciona savignyi)
Ascidiacea CSCA1 34
  • 97 (a)
ManyToMany
Species where no ortholog for ACTB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for ACTB Gene

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

Paralogs for ACTB Gene

Variants for ACTB Gene

Sequence variations from dbSNP and Humsavar for ACTB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs104894003 Pathogenic, Dystonia, juvenile-onset (DJO) [MIM:607371] 5,528,536(-) CTGGC(C/T)GGGAC reference, missense
rs281875331 Pathogenic, Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] 5,529,624(-) TCGAC(A/C/G)ACGGC reference, missense
rs281875332 Pathogenic, Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] 5,529,331(-) GCATC(C/G/T)TCACC reference, missense
rs281875333 Pathogenic, Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] 5,528,497(-) CCGAG(A/C/T)GCGGC reference, missense
rs281875334 Pathogenic, Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] 5,528,496(-) CGAGC(A/G)CGGCT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3482n106 OTHER inversion 24896259
esv25511 CNV loss 19812545
esv3571585 CNV loss 25503493
esv3611976 CNV loss 21293372
nsv436904 CNV insertion 17901297
nsv471304 CNV loss 18288195
nsv517558 CNV loss 19592680
nsv526194 CNV gain 19592680
nsv830890 CNV loss 17160897
nsv981426 CNV duplication 23825009

Variation tolerance for ACTB Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTB

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

Disorders for ACTB Gene

MalaCards: The human disease database

(20) MalaCards diseases for ACTB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia, juvenile-onset
  • juvenile-onset dystonia
baraitser-winter syndrome 1
  • fryns-aftimos syndrome
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
leukemia, acute lymphoblastic
  • leukemia, acute lymphoblastic, somatic
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards
Search ACTB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTB_HUMAN
  • Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269 PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia, juvenile-onset (DJO) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. {ECO:0000269 PubMed:16685646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACTB Gene

recurrent infection,photosensitivity and mild mental retardation associated to abnormalities in neutrophil chemotaxis,superoxide production and membrane potential response

Relevant External Links for ACTB

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

Publications for ACTB Gene

  1. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. (PMID: 22366783) Rivière JB … Dobyns WB (Nature genetics 2012) 3 4 60
  2. Nuclear ErbB2 enhances translation and cell growth by activating transcription of ribosomal RNA genes. (PMID: 21555369) Li LY … Hung MC (Cancer research 2011) 3 4 60
  3. [Establishment of a multiplex ligation-dependent SNP genotyping method and its application in the detection of genes related to chemotherapeutic drugs in breast cancer]. (PMID: 19538885) Tang JH … Xu ZY (Zhonghua zhong liu za zhi [Chinese journal of oncology] 2009) 3 45 60
  4. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Jønson L … Nielsen FC (Molecular & cellular proteomics : MCP 2007) 3 4 60
  5. HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration. (PMID: 17823310) Lu X … Lossos IS (Blood 2007) 3 4 60

Products for ACTB Gene

  • Addgene plasmids for ACTB

Sources for ACTB Gene

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