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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
  • I(2)-Actin 3
  • Beta-Actin 4
  • PS1TP5BP1 3
  • β-Actin 2
  • 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 Baraitser-Winter Syndrome 1 and Dystonia, Juvenile-Onset. Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include identical protein binding and RNA polymerase II proximal promoter 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

GeneHancer (GH) Regulatory Elements for ACTB Gene

Promoters and enhancers for ACTB 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
GH07J005523 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 651.9 +34.3 34286 11.1 MLX FEZF1 DMAP1 E2F8 ZNF143 NFYC GLIS1 RCOR2 NBN KDM1A ACTB GC07M005528 GC07M005529 GC07M005530 PIR61399 USP42 ANKRD61 AP5Z1 RNF216 CCZ1
GH07J005561 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 650.7 +0.9 936 2.6 ARNT ARID4B SIN3A ZNF2 CBX5 ZNF207 ZNF143 FOS SP3 SP5 ACTB FBXL18 MIR589 FSCN1 LOC100288712
GH07J005687 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -130.9 -130942 15 HDGF PKNOX1 FOXA2 SMAD1 SIN3A FEZF1 IRF4 YY1 TCF12 ELK1 USP42 RNF216P1 C7orf26 ACTB ZNF316 RBAK FBXL18 MIR589 FSCN1 ENSG00000188365
GH07J005632 Enhancer 1.6 VISTA Ensembl ENCODE dbSUPER 12.5 -72.5 -72518 8 PKNOX1 FOXA2 ETS1 SCRT2 PRPF4 RCOR1 FOS EGR2 ZNF362 REST ACTB FBXL18 MIR589 C7orf26 USP42 ANKRD61 ZNF815P EIF2AK1 RNF216-IT1 FSCN1
GH07J005676 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -115.9 -115864 6.5 RAD21 ZNF143 RCOR1 ETV6 IKZF2 RUNX3 CREM ZNF654 REST ELF1 RNF216-IT1 ACTB FBXL18 FSCN1 MIR589 ZNF815P USP42 RNF216
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTB gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • SRF (504 AA)
  • SRF
  • STAT1
  • p53
  • Sp1

Genomic Locations for ACTB Gene

Genomic Locations for ACTB Gene
chr7:5,527,147-5,563,784
(GRCh38/hg38)
Size:
36,638 bases
Orientation:
Minus strand
chr7:5,566,779-5,603,415
(GRCh37/hg19)
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. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM. Interacts with TBC1D21 (By similarity). Interacts with DHX9 (via C-terminus); this interaction is direct and mediates the attachment to nuclear ribonucleoprotein complexes (PubMed:11687588).
    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

  • ISGylated.
  • 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).
  • 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.
  • (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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody 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

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.
GENATLAS Biochemistry:
actin,beta,cytoplasmic,major constituent of microfilaments

Gene Ontology (GO) - Molecular Function for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA 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 Actb<tm1.1(tetO-COP4*/EYFP)Kftnk>
  • Actb Actb<tm2.1Npa>
  • Actb Actb<tm1Alj>

Animal Model Products

miRNA for ACTB Gene

miRTarBase miRNAs that target ACTB

Clone Products

  • Addgene plasmids for ACTB

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
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 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 HDA 16217013
GO:0005615 extracellular space HDA 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 HEP 23580065
GO:0016579 protein deubiquitination TAS --
GO:0021762 substantia nigra development HEP 22926577
GO:0032091 negative regulation of protein binding ISS --
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

(11) Drugs for ACTB Gene - From: DrugBank 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, Investigational Nutra Target Antitumor agent, Non-selective PI 3-kinase inhibitor 42
Phenethyl isothiocyanate Investigational Pharma Target 12
CK 666 Pharma Arp2/3 inhibitor; inhibits actin polymerization 0
CK 869 Pharma Arp2/3 inhibitor; inhibits actin polymerization 0

(1) Additional Compounds for ACTB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for ACTB Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6
genes like me logo Genes that share compounds with ACTB: view

Transcripts for ACTB Gene

mRNA/cDNA for ACTB Gene

(1) REFSEQ mRNAs :
(35) Additional mRNA sequences :
(2230) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTB Gene

Actin, beta:
Representative Sequences:

Clone Products

  • Addgene plasmids for ACTB

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 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
Regions:
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

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 34 33
  • 99.47 (n)
OneToMany
-- 34
  • 46 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ACTB 34 33
  • 93.78 (n)
OneToOne
dog
(Canis familiaris)
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)
Act57B 34 35
  • 95 (a)
ManyToMany
Act88F 35
  • 95 (a)
Act79B 35
  • 94 (a)
Act87E 35 33
  • 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 34 35
  • 98 (a)
ManyToMany
act-3 35
  • 97 (a)
act-1 35
  • 97 (a)
act-5 35
  • 93 (a)
F42C5.9 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACT1 36 34
  • 89 (a)
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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTB: view image

Paralogs for ACTB Gene

(32) SIMAP similar genes for ACTB Gene using alignment to 9 proteins:

  • ACTB_HUMAN
  • A0AUL6_HUMAN
  • C9JTX5_HUMAN
  • C9JUM1_HUMAN
  • C9JZR7_HUMAN
  • E7EVS6_HUMAN
  • G5E9R0_HUMAN
  • G8FSY7_HUMAN
  • Q9UMN3_HUMAN
genes like me logo Genes that share paralogs with ACTB: view

Variants for ACTB Gene

Sequence variations from dbSNP and Humsavar for ACTB Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs104894003 pathogenic, Juvenile-onset dystonia, Baraitser-Winter syndrome 1, Dystonia, juvenile-onset (DJO) [MIM:607371] 5,528,536(-) G/A coding_sequence_variant, missense_variant
rs11546939 conflicting-interpretations-of-pathogenicity, benign, not specified, Baraitser-Winter syndrome 1 5,528,046(-) C/T coding_sequence_variant, synonymous_variant
rs13447397 likely-benign, benign, not specified, Baraitser-Winter syndrome 1 5,529,404(-) G/A intron_variant
rs13447407 benign, Baraitser-Winter syndrome 1 5,528,085(-) G/A/T coding_sequence_variant, synonymous_variant
rs281875331 pathogenic, not-provided, Baraitser-Winter syndrome 1, not provided, Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] 5,529,624(-) T/C/G coding_sequence_variant, missense_variant

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)

Additional Variant Information for ACTB Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
baraitser-winter syndrome 1
  • hypertelorism
dystonia, juvenile-onset
  • djo
becker nevus syndrome
  • becker's nevus
leukemia, acute lymphoblastic
  • all
baraitser-winter syndrome
  • iris coloboma with ptosis, hypertelorism, and mental retardation
- 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
  • 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.
  • 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.

Genatlas disease for ACTB Gene

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

Additional Disease Information for ACTB

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 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 58
  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 58
  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 44 58
  4. 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 58
  5. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Jønson L … Nielsen FC (Molecular & cellular proteomics : MCP 2007) 3 4 58

Products for ACTB Gene

  • Addgene plasmids for ACTB