ACTB Gene
protein-coding GIFtS : 70
GCID: GC07 M005566
actin, beta
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Aliasesfor ACTB gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Actin, Beta 1 2 Beta Cytoskeletal Actin2 BRWS12 PS1TP5-Binding Protein 12 PS1TP5BP12 Beta-Actin1 Actin, Cytoplasmic 12
Export aliases for ACTB gene to outside databases Previous GC identifers: GC07M005211 GC07M005311 GC07M005340 GC07M005533 GC07M005479
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Summariesfor ACTB gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ACTB : This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709 Function : Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitouslyexpressed in all eukaryotic cells summary
for ACTB : Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is foundin 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 - a feature vital in actin's role as a dynamic filamentnetwork. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actinis a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherensjunctions. This gives mechanical support to cells and attaches them to each other and the extracellularmatrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to formactomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening throughactin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has arole in cell motility through polymerization and depolymerization of fibrils. Gene Wiki entry for ACTB (Beta-actin)
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Genomic Viewsfor ACTB gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ACTB gene promoter: SRF STAT1 Sp1 p53 AP-1 SRF (504 AA) ATF-2 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for ACTB Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ACTB
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7p22 Ensembl cytogenetic band: 7p22.1 HGNC cytogenetic band: 7p22 ACTB Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M005566: view genomic region
(about GC identifiers )
Start:
5,566,779 bp from pter
End:
5,603,415 bp from pter
Size:
36,637 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 5,613,124-5,616,577
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Proteinsfor ACTB gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709 (See
protein sequence )Recommended Name: Actin, cytoplasmic 1 Size : 375 amino acids; 41737 Da
Subunit : Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of atwo-stranded helix. Each actin can bind to 4 others. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and 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 MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM
Subcellular location : Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslatedmRNAs
Miscellaneous : In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alphaactins 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
3 PDB 3D structures from and Proteopedia for ACTB :3BYH (3D)
  3D2U (3D)
  3LUE (3D)
 
Secondary accessions : P02570 P70514 P99021 Q11211 Q64316 Q75MN2 Q96B34 Q96HG5Explore the universe of human proteins at neXtProt for ACTB: NX_P60709 Post-translational modifications:
ISGylated1
Oxidation of Met-44 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or the (R)-S-oxide is produced (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P60709 ACTB Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001092.1 ENSEMBL proteins: ENSP00000349960 ENSP00000409264 ENSP00000407473 ENSP00000393951 ENSP00000399487 ENSP00000401032 Reactome Protein details: P60709 Human Recombinant Protein Products: Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14 ): About this table
ACTB for ontologies About GeneDecksing ACTB Antibody Products: Assay Products for ACTB:
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Protein
Domains / Familiesfor ACTB gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ACTB for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P60709 ProtoNet protein and cluster: P60709
UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709 Similarity : Belongs to the actin family
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Functionfor ACTB gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709 Function : Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitouslyexpressed in all eukaryotic cells
Genatlas biochemistry entry for ACTB : actin,beta,cytoplasmic,major constituent of microfilaments Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ACTB (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ACTBOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ACTB (NM_001101 ) Sino Biological Human cDNA Clone for ACTB DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ACTB Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ACTB
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTB
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
ACTB for ontologies About GeneDecksing 3 GenomeRNAi human phenotypes for ACTB :Animal Models: Mouse knock-out Actb tm1Bhr for ACTB 15/17 MGI mutant phenotypes (inferred from 13 alleles ) (MGI details for Actb) (see all 17 ):
ACTB for phenotypes About GeneDecksing
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Pathways & Interactionsfor ACTB gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/81 super-pathways (see all 81 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Cell adhesion_Integrin-mediated cell adhesion and migration 2 G-protein signaling_RAC1 in cellular process 3 Cell-cell junction organization 4 Regulation of actin dynamics for phagocytic cup formation 5 Axon guidance
Pathway sources See GeneCards unified pathways Show all pathways 5/28 EMD Millipore Pathways for ACTB (see all 28 )5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTB (see all 43 )1
Cell Signaling Technology (CST) Pathway for ACTB 5/30 GeneGo (Thomson Reuters) Pathways for ACTB (see all 30 )5 BioSystems Pathways for ACTB 5/32
Reactome Pathways for ACTB (see all 32 )5/16
Kegg Pathways (Kegg details for ACTB) (see all 16 ):
ACTB for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACTB STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/1433 Interacting proteins for ACTB (P60709 1 , 2 , 3 ENSP00000349960 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 1433 )About this table Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12 ): About this table
ACTB for ontologies About GeneDecksing
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Drugs & Compoundsfor ACTB gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ACTB for compounds About GeneDecksing Compounds for ACTB available from Tocris Bioscience About this table 1 Novoseek chemical compound relationship for ACTB gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
actb
86.6
6
15111311 (4), 10344733 (1), 15555571 (1)
Search CenterWatch for drugs/clinical trials and news about ACTB
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Transcriptsfor ACTB gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ACTB gene: NM_001101.3 Unigene Cluster for ACTB:
Actin, beta Hs.520640 [show with all ESTs ] Unigene Representative Sequence: BM802936 13 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000464611 ENST00000331789 (uc003sot.4 ) ENST00000425660 (uc003soq.4 )ENST00000462494 (uc003sor.4 ) ENST00000493945 ENST00000484841 ENST00000473257 ENST00000477812 ENST00000432588 ENST00000480301 ENST00000443528 ENST00000417101 ENST00000414620 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ACTB (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ACTBOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ACTB (NM_001101 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ACTB Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ACTB
Additional cDNA sequence: AK025375.1 AK058019.1 AK098751.1 AK130062.1 AK130157.1 AK222925.1 AK223032.1 AK223055.1 AK225414.1 AK301372.1 AK304552.1 AK308277.1 AK309997.1 AK316361.1 BC001301.1 BC002409.2 BC004251.1 BC008633.1 BC009636.1 BC012854.1 BC013380.2 BC013835.1 BC014401.1 BC014861.1 BC016045.1 BC023204.1 BC113036.1 DQ407611.1 DQ471327.1 EF036500.1 EF095209.1 HM358929.1 HM358941.1 M28424.1 V00478.1 X00351.1 X63432.1
24/503 DOTS entries (see all 503 ): DT.92033793 DT.100750826
DT.98084087 DT.95351154 DT.100750758 DT.98083477 DT.100640118 DT.98083827 DT.97869763 DT.100648253 DT.100750378 DT.92033435 DT.100644965 DT.91922077 DT.100750915 DT.87018310 DT.100770618 DT.91704736 DT.100750938 DT.95277326 DT.100750321 DT.91852655 DT.95277435 DT.95277537 24/2230 AceView cDNA sequences (see all 2230 ):
AA310360 BM993666 BX410833 BU553276 CR595291 BM788006 CB131070 BQ063316 BM477040 BP340827 BQ677905 BC014401 BP373260 BG747299 BX432597 BM846467 BP355017 BM750427 BQ030174 BF725700 BM992735 BM837278 BX391400 BE042608 GeneLoc Exon Structure 5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACTB (see all 10 ) About this scheme 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 :     -   -             -   -   -                  
ECgene alternative splicing isoforms for ACTB
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Expression for ACTB gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ACTB expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCTTTATTTG
About this image ACTB expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ACTB Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ACTB SOURCE GeneReport for Unigene cluster: Hs.520640 SABiosciences Expression via Pathway-Focused PCR Arrays including ACTB (see all 149 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ACTBBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ACTB QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ACTB QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ACTB In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTB
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Orthologsfor ACTB gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ACTB gene from 6/30 species (see all 30 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
ACTB1
actin, beta
88.27(n) 100(a)
 
396526 NM_205518.1 NP_990849.1
lizard (Anolis carolinensis)
Reptilia
ACTB6 --
--
95(a) 85(a)
1 ↔ 1possible ortholog
GL344051.1(77778-83159) GL343721.1(263114-263356)
zebrafish (Danio rerio)
Actinopterygii
bactin22
bactin2
88.94(n)
 
57935 BC045879.1
fruit fly (Drosophila melanogaster)
Insecta
Act5C3 Act88F1
cytoskeleton organization and biogenesis structural more 3 Actin 88F1
98(a) (best of 7)3 85.74(n) 1 95.99(a) 1
 
5C73 41885 1 NM_079643.1 1 NP_524367.1 1
thale cress (Arabidopsis thaliana)
eudicotyledons
ACT31
actin 3
74.8(n) 89.54(a)
 
824542 NM_115235.3 NP_566988.1
rice (Oryza sativa)
Liliopsida
Os.34202
Oryza sativa RAc1 mRNA for actin
80.96(n)
 
AB047313.1
ENSEMBL Gene Tree for ACTB (if available)TreeFam Gene Tree for ACTB (if available)
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Paralogsfor ACTB gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ACTB gene ACTG2 2 ACTA2 2 ACTRT2 2 ACTR1A 2 ACTC1 2 ACTL9 2 ACTRT1 2 ACTG1 2 ACTL7A 2 ACTBL2 2 ACTL7B 2 ACTR1B 2 ACTA1 2 ACTRT3 2 18/31 SIMAP similar genes for ACTB using alignment to 9 protein entries: ACTB_HUMAN (see all proteins )
(see all similar genes ):PS1TP5BP1 ACTG1 ACTA2 POTEF ACTBL2 ACTC1 ACT POTEI POTEJ POTEKP POTEE ACTG2 ACTA1 ACTR1A ACTR1B ACTRT3 ACTRT1 ACTR2
ACTB for paralogs About GeneDecksing 5/10 Pseudogenes.org Pseudogenes for ACTB (see all 10 )PGOHUM00000242113 PGOHUM00000235085 PGOHUM00000234490 PGOHUM00000237624 PGOHUM00000238279
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Genomic Variantsfor ACTB gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ACTB (5566779 - 5603415 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for ACTB 4 CNVs : 4524 64744 52250 52249 Human Gene Mutation Database (HGMD) : ACTB SABiosciences Cancer Mutation PCR Assays
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Disorders
/ Diseasesfor ACTB gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ACTB for disorders About GeneDecksing OMIM gene information: 102630 OMIM disorders : 607371 UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss Defects in ACTB are the cause of Baraitser-Winter syndrome type 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 20/35 diseases for ACTB (see all 35 ): About MalaCards wiskott-aldrich syndrome non-small cell lung carcinoma phaeohyphomycosis bipolar disorder shigellosis autoimmune hepatitis lung carcinoma colon adenocarcinoma cholera hepatocellular carcinoma gingivitis colon cancer pharyngitis influenza adenocarcinoma carcinoma prostate cancer breast cancer glioblastoma hepatitis 2 diseases from the University of Copenhagen DISEASES database for ACTB :Cancer Vascular disease 1 Novoseek disease relationship for ACTB gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
tumors
0
3
10344733 (1), 15111311 (1), 15555571 (1)
Genatlas disease: ACTB recurrent infection,photosensitivity and mild mental retardation associated to abnormalities in neutrophil chemotaxis,superoxide production and membrane potential response Human Genome Epidemiology (HuGE) Navigator: ACTB (1 document)Export disorders for ACTB gene to outside databases
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Publicationsfor ACTB gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ACTB gene, integrated from 9 sources (see all 335 ): (articles sorted by number of sources associating them with ACTB) Utopia : connect your pdf to the dynamic world of online information
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (PubMed id 22366783) 1 , 2 Riviere J.B....Dobyns W.B. (2012) GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis. (PubMed id 19377461) 1 , 2 Fujiki R.... Kato S. (2009) Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661) 1 , 2 Joeson L.... Nielsen F.C. (2007) A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. (PubMed id 16685646) 1 , 2 Procaccio V.... Wainer B.H. (2006) Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537) 1 , 2 Holaska J.M.... Wilson K.L. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801) 1 , 2 Gevaert K.... Vandekerckhove J. (2003) Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes. (PubMed id 14592989) 1 , 2 Stueven T.... Goerlich D. (2003) The DNA sequence of human chromosome 7. (PubMed id 12853948) 1 , 2 Hillier L.W.... Wilson R.K. (2003) Direct proof that the primary site of action of cytochalasin on cell motility processes is actin. (PubMed id 1734024) 1 , 2 Ohmori H.... Toyama S. (1992)
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External Searches for ACTB gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ACTB gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ACTB gene
(According to HUGE )
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Specialized Databases showing ACTB gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for ACTB gene: Search GeneIP for patents involving ACTB GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ACTB gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ACTB Browse OriGene shRNA RFPs OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ACTB OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ACTB OriGene Protein Over-expression Lysate for ACTB Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ACTB OriGene 3'-UTR Clone for ACTB OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ACTB OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ACTB Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for ACTB OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ACTB OriGene Custom Protein Services for ACTB OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACTB Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTB QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ACTB QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ACTB QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ACTB QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ACTB
Antibodies & Assays for ACTB  
Tocris compounds for ACTB
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTB
ThermoFisher Antibodies for ACTB
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ACTB
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