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ACTB (Actin, beta)

Written2005-03Anna Dahlén, Fredrik Mertens, Nils Mandahl, Ioannis Panagopoulos
Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)Beta cytoskeletal actin
Beta actin
HGNC (Hugo) ACTB
HGNC Alias nameβ-actin
LocusID (NCBI) 60
Atlas_Id 42959
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 5527148 and ends at 5530601 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ACTB.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACO2 (22q13.2)::ACTB (7p22.1)ACTB (7p22.1)::ACO2 (22q13.2)ACTB (7p22.1)::ACTB (7p22.1)
ACTB (7p22.1)::AGAP1 (2q37.2)ACTB (7p22.1)::BSG (19p13.3)ACTB (7p22.1)::CBX5 (12q13.13)
ACTB (7p22.1)::FMN1 (15q13.3)ACTB (7p22.1)::GLI1 (12q13.3)ACTB (7p22.1)::GNAS (20q13.32)
ACTB (7p22.1)::HERPUD2 (7p14.2)ACTB (7p22.1)::HIPK2 (7q34)ACTB (7p22.1)::ISY1-RAB43 (3q21.3)
ACTB (7p22.1)::LENG8 (19q13.42)ACTB (7p22.1)::LOC100507412 (-)ACTB (7p22.1)::NOL4L (20q11.21)
ACTB (7p22.1)::OSBPL3 (7p15.3)ACTB (7p22.1)::P4HB (17q25.3)ACTB (7p22.1)::RELA (11q13.1)
ACTB (7p22.1)::RPS16 (19q13.2)ACTB (7p22.1)::SQSTM1 (5q35.3)ACTB (7p22.1)::SUPV3L1 (10q22.1)
ACTB (7p22.1)::TANGO2 (22q11.21)ACTB (7p22.1)::THBS3 (1q22)ACTB (7p22.1)::UBA1 (Xp11.23)
APOL1 (22q12.3)::ACTB (7p22.1)DLG4 (17p13.1)::ACTB (7p22.1)GLI1 (12q13.3)::ACTB (7p22.1)
H1F0 (22q13.1)::ACTB (7p22.1)JPH3 (16q24.2)::ACTB (7p22.1)LOC100507412 (-)::ACTB (7p22.1)
MAOA (Xp11.3)::ACTB (7p22.1)NDUFS6 (5p15.33)::ACTB (7p22.1)OGT (Xq13.1)::ACTB (7p22.1)
PITPNA (17p13.3)::ACTB (7p22.1)SLC34A2 (4p15.2)::ACTB (7p22.1)SNHG1 (11q12.3)::ACTB (7p22.1)
SPTLC2 (14q24.3)::ACTB (7p22.1)TSNARE1 (8q24.3)::ACTB (7p22.1)VAMP2 (17p13.1)::ACTB (7p22.1)
Note Six actin isoforms are known: two sarcomeric (a-skeletal and a-cardiac), two smooth muscle actins (a and g), and two non-muscle, cytoskeletal actins (b and g).

DNA/RNA

 
  Genomic organization of the ACTB gene.
Description Six exons, spans approximately 3.4 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon ATG is located in exon 2, and the stop codon in exon 6.
Transcription mRNA of approximately 1.8 kb.
Pseudogene At least 19 processed, non-expressed, pseudogenes are dispersed throughout the genome.

Protein

Description The open reading frame encodes a 374 amino acid protein, with an estimated molecular weight of approximately 41.7 kDa.
Expression Abundantly expressed in all mammalian and avian non-muscle cells.
Localisation Cytoplasm
Function Component (together with cytoplasmic g actin) of the cytoskeletal microfilaments. Involved in the transport of chromosomes and organelles as well as in cell motility.
Homology The ACTB proteins are evolutionary conserved. Mammalian cytoplasmic actins (actin g and b) are remarkably similar to each other, but differ in at least 25 residues from the muscle actins.

Mutations

Somatic ACTB is interrupted by the t(7;12)(p22;q13) detected in pericytoma with t(7;12).

Implicated in

Note
Disease
Prognosis Benign or low-malignant
Cytogenetics t(7;12)(p22;q13)
Hybrid/Mutated Gene ACTB-GLI1 fusion gene. The breakpoints reported so far have been located to introns 1, 2 or 3 within the ACTB gene, and to introns 5 or 6 or to exon 7 within the GLI1 gene. Reciprocal GLI1-ACTB gene fusions have also been detected. The breakpoints have been located to introns 5 or 7 within the GLI1 gene, and to intron 3 of the ACTB gene.
 
Representative G-banded partial karyotype of the t(7;12)(p22;q13).
Abnormal Protein The ACTB-GLI1 fusion protein contains the N-terminal of ACTB and the C-terminal of GLI1, including the DNA-binding zink finger motifs (encoded by exons 7-10) and transactivating motifs (exon 12).
Oncogenesis It is suggested that the strong ACTB promoter causes an overexpression of GLI1 sequences important for transcriptional activation of downstream target genes, akin to the oncogenic mechanisms of the COL1A1-PDGFB fusion gene detected in dermatofibrosarcoma protuberans.
  

Breakpoints

 

Bibliography

Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12).
Dahlén A, Mertens F, Mandahl N, Panagopoulos I
Biochemical and biophysical research communications. 2004 ; 325 (4) : 1318-1323.
PMID 15555571
 
The human beta-actin multigene family.
Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J
Transactions of the Association of American Physicians. 1985 ; 98 : 42-46.
PMID 3842206
 
Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns.
Nakajima-Iijima S, Hamada H, Reddy P, Kakunaga T
Proceedings of the National Academy of Sciences of the United States of America. 1985 ; 82 (18) : 6133-6137.
PMID 2994062
 
Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes.
Ng SY, Gunning P, Eddy R, Ponte P, Leavitt J, Shows T, Kedes L
Molecular and cellular biology. 1985 ; 5 (10) : 2720-2732.
PMID 3837182
 
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP
Nature genetics. 1997 ; 15 (1) : 95-98.
PMID 8988177
 
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
Ueyama H, Inazawa J, Nishino H, Ohkubo I, Miwa T
Cytogenetics and cell genetics. 1996 ; 74 (3) : 221-224.
PMID 8941379
 
Mammalian cytoplasmic actins are the products of at least two genes and differ in primary structure in at least 25 identified positions from skeletal muscle actins.
Vandekerckhove J, Weber K
Proceedings of the National Academy of Sciences of the United States of America. 1978 ; 75 (3) : 1106-1110.
PMID 274701
 

Citation

This paper should be referenced as such :
Dahlén, A ; Mertens, F ; Mandahl, N ; Panagopoulos, I
ACTB (actin, beta)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):127-128.
Free journal version : [ pdf ]   [ DOI ]


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dubowitz syndrome


External links

 

Nomenclature
HGNC (Hugo)ACTB   132
LRG (Locus Reference Genomic)LRG_132
Cards
AtlasACTBID42959ch7p22
Entrez_Gene (NCBI)ACTB    actin beta
AliasesBRWS1; PS1TP5BP1
GeneCards (Weizmann)ACTB
Ensembl hg19 (Hinxton)ENSG00000075624 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075624 [Gene_View]  ENSG00000075624 [Sequence]  chr7:5527148-5530601 [Contig_View]  ACTB [Vega]
ICGC DataPortalENSG00000075624
TCGA cBioPortalACTB
AceView (NCBI)ACTB
Genatlas (Paris)ACTB
SOURCE (Princeton)ACTB
Genetics Home Reference (NIH)ACTB
Genomic and cartography
GoldenPath hg38 (UCSC)ACTB  -     chr7:5527148-5530601 -  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTB  -     7p22.1   [Description]    (hg19-Feb_2009)
GoldenPathACTB - 7p22.1 [CytoView hg19]  ACTB - 7p22.1 [CytoView hg38]
ImmunoBaseENSG00000075624
Genome Data Viewer NCBIACTB [Mapview hg19]  
OMIM102630   243310   607371   
Gene and transcription
Genbank (Entrez)AK025375 AK058019 AK098751 AK130062 AK130157
RefSeq transcript (Entrez)NM_001101
Consensus coding sequences : CCDS (NCBI)ACTB
Gene ExpressionACTB [ NCBI-GEO ]   ACTB [ EBI - ARRAY_EXPRESS ]   ACTB [ SEEK ]   ACTB [ MEM ]
Gene Expression Viewer (FireBrowse)ACTB [ Firebrowse - Broad ]
GenevisibleExpression of ACTB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60
GTEX Portal (Tissue expression)ACTB
Human Protein AtlasENSG00000075624-ACTB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60709   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60709  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60709
PhosPhoSitePlusP60709
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS    ATPase_NBD   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTB
PDB (RSDB)3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
PDB Europe3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
PDB (PDBSum)3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
PDB (IMB)3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
Structural Biology KnowledgeBase3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
SCOP (Structural Classification of Proteins)3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
CATH (Classification of proteins structures)3BYH    3D2U    3J82    3LUE    6ANU    6ICT    6ICV    6LTJ    6MBJ    6MBK    6MBL    6NBW    6OX0    6OX1    6OX2    6OX3    6OX4    6OX5   
SuperfamilyP60709
AlphaFold pdb e-kbP60709   
Human Protein Atlas [tissue]ENSG00000075624-ACTB [tissue]
HPRD00032
Protein Interaction databases
DIP (DOE-UCLA)P60709
IntAct (EBI)P60709
Complex Portal (EBI)P60709 CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
P60709 CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
P60709 CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
P60709 CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
P60709 CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
P60709 CPX-978 NuA4 histone acetyltransferase complex
P60709 CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
P60709 CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
P60709 CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
P60709 CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
P60709 CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
P60709 CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
P60709 CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
P60709 CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
P60709 CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
P60709 CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant
P60709 CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
P60709 CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
P60709 CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
P60709 CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
P60709 CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
P60709 CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
P60709 CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
P60709 CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
P60709 CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
P60709 CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
P60709 CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
P60709 CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
P60709 CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
P60709 CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
P60709 CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
P60709 CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
P60709 CPX-4084 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant
P60709 CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
P60709 CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
P60709 CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
P60709 CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant
P60709 CPX-4203 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant
P60709 CPX-4206 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant
P60709 CPX-4207 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant
BioGRIDACTB
STRING (EMBL)ACTB
ZODIACACTB
Ontologies - Pathways
QuickGOP60709
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  chromatin  morphogenesis of a polarized epithelium  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  cytoskeleton  actin filament  plasma membrane  plasma membrane  cell-cell junction  adherens junction  focal adhesion  establishment or maintenance of cell polarity  axonogenesis  actin cytoskeleton  membrane  membrane  protein deubiquitination  kinesin binding  protein kinase binding  protein kinase binding  substantia nigra development  regulation of transmembrane transporter activity  regulation of transmembrane transporter activity  lamellipodium  axon  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  vesicle  negative regulation of protein binding  protein-containing complex  protein-containing complex  cell junction assembly  adherens junction assembly  NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  maintenance of blood-brain barrier  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  apical junction complex  calyx of Held  apical protein localization  synapse  positive regulation of gene expression, epigenetic  ephrin receptor signaling pathway  tau protein binding  synaptic vesicle endocytosis  cell motility  cell motility  nitric-oxide synthase binding  regulation of norepinephrine uptake  regulation of norepinephrine uptake  positive regulation of norepinephrine uptake  membrane organization  extracellular exosome  tight junction  platelet aggregation  protein localization to adherens junction  blood microparticle  cellular response to cytochalasin B  dense body  Schaffer collateral - CA1 synapse  presynapse  postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton organization  glutamatergic synapse  glutamatergic synapse  glutamatergic synapse  regulation of transepithelial transport  regulation of protein localization to plasma membrane  ribonucleoprotein complex  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  chromatin  morphogenesis of a polarized epithelium  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  cytoskeleton  actin filament  plasma membrane  plasma membrane  cell-cell junction  adherens junction  focal adhesion  establishment or maintenance of cell polarity  axonogenesis  actin cytoskeleton  membrane  membrane  protein deubiquitination  kinesin binding  protein kinase binding  protein kinase binding  substantia nigra development  regulation of transmembrane transporter activity  regulation of transmembrane transporter activity  lamellipodium  axon  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  vesicle  negative regulation of protein binding  protein-containing complex  protein-containing complex  cell junction assembly  adherens junction assembly  NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  maintenance of blood-brain barrier  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  apical junction complex  calyx of Held  apical protein localization  synapse  positive regulation of gene expression, epigenetic  ephrin receptor signaling pathway  tau protein binding  synaptic vesicle endocytosis  cell motility  cell motility  nitric-oxide synthase binding  regulation of norepinephrine uptake  regulation of norepinephrine uptake  positive regulation of norepinephrine uptake  membrane organization  extracellular exosome  tight junction  platelet aggregation  protein localization to adherens junction  blood microparticle  cellular response to cytochalasin B  dense body  Schaffer collateral - CA1 synapse  presynapse  postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  structural constituent of postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton organization  glutamatergic synapse  glutamatergic synapse  glutamatergic synapse  regulation of transepithelial transport  regulation of protein localization to plasma membrane  ribonucleoprotein complex  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]   
Pathways : KEGGRap1 signaling pathway    Phagosome    Hippo signaling pathway    Focal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Thyroid hormone signaling pathway    Gastric acid secretion    Bacterial invasion of epithelial cells    Vibrio cholerae infection    Pathogenic Escherichia coli infection    Shigellosis    Salmonella infection    Influenza A    Proteoglycans in cancer    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
REACTOMEP60709 [protein]
REACTOME PathwaysR-HSA-983231 [pathway]   
NDEx NetworkACTB
Atlas of Cancer Signalling NetworkACTB
Wikipedia pathwaysACTB
Orthology - Evolution
OrthoDB60
GeneTree (enSembl)ENSG00000075624
Phylogenetic Trees/Animal Genes : TreeFamACTB
Homologs : HomoloGeneACTB
Homology/Alignments : Family Browser (UCSC)ACTB
Gene fusions - Rearrangements
Fusion : MitelmanACO2::ACTB [22q13.2/7p22.1]  
Fusion : MitelmanACTB::GLI1 [7p22.1/12q13.3]  
Fusion : MitelmanACTB::GNAS [7p22.1/20q13.32]  
Fusion : MitelmanACTB::NOL4L [7p22.1/20q11.21]  
Fusion : MitelmanAPOL1::ACTB [22q12.3/7p22.1]  
Fusion : MitelmanH1F0::ACTB [22q13.1/7p22.1]  
Fusion : MitelmanNDUFS6::ACTB [5p15.33/7p22.1]  
Fusion : MitelmanOGT::ACTB [Xq13.1/7p22.1]  
Fusion : MitelmanSLC34A2::ACTB [4p15.2/7p22.1]  
Fusion : COSMICGLI1 [12q13.3]  -  ACTB [7p22.1]  [fusion_1387]  [fusion_1388]  [fusion_1390]  [fusion_1395]  
Fusion Cancer (Beijing)DLG4 [17p13.1]  -  ACTB [7p22.1]  [FUSC001350]
Fusion : QuiverACTB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTB
dbVarACTB
ClinVarACTB
MonarchACTB
1000_GenomesACTB 
Exome Variant ServerACTB
GNOMAD BrowserENSG00000075624
Varsome BrowserACTB
ACMGACTB variants
VarityP60709
Genomic Variants (DGV)ACTB [DGVbeta]
DECIPHERACTB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTB 
Mutations
ICGC Data PortalACTB 
TCGA Data PortalACTB 
Broad Tumor PortalACTB
OASIS PortalACTB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACTB
Mutations and Diseases : HGMDACTB
intOGen PortalACTB
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaACTB
DgiDB (Drug Gene Interaction Database)ACTB
DoCM (Curated mutations)ACTB
CIViC (Clinical Interpretations of Variants in Cancer)ACTB
OncoKBACTB
NCG (London)ACTB
Cancer3DACTB
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102630    243310    607371   
Orphanet3066    11149   
DisGeNETACTB
MedgenACTB
Genetic Testing Registry ACTB
NextProtP60709 [Medical]
GENETestsACTB
Target ValidationACTB
Huge Navigator ACTB [HugePedia]
ClinGenACTB (curated)
Clinical trials, drugs, therapy
MyCancerGenomeACTB
Protein Interactions : CTDACTB
Pharm GKB GenePA24457
PharosP60709
Clinical trialACTB
Miscellaneous
canSAR (ICR)ACTB
HarmonizomeACTB
DataMed IndexACTB
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACTB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:11:44 CEST 2021

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