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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACTBL2 Gene

protein-coding   GIFtS: 39
GCID: GC05M056813

actin, beta-like 2

 Explore 4 diseases affiliated with
ACTBL2 via our new
 Human Malady Compendium 
Biological research products
for ACTBL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Actin, Beta-Like 21 2     Beta-Actin-Like Protein 22
DKFZp686D09721     Kappa-Actin1
ACT2     Kappa-Actin1
Actin-Like Protein2     

External Ids:    HGNC: 177801   Entrez Gene: 3456512   Ensembl: ENSG000001690677   OMIM: 6148355   UniProtKB: Q562R13   

Export aliases for ACTBL2 gene to outside databases

Previous GC identifers: GC00U921642 GC05M053748


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ACTBL_HUMAN, Q562R1
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously
expressed in all eukaryotic cells (By similarity)




(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_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTBL2 gene promoter:
         FOXF2   AML1a   Pax-5   LUN-1   Tal-1beta   AREB6   POU2F1   POU2F1a   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ACTBL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTBL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11.2   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11.2

ACTBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTBL2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M056813:  view genomic region     (about GC identifiers)

Start:
56,775,843 bp from pter      End:
56,778,636 bp from pter
Size:
2,794 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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: ACTBL_HUMAN, Q562R1 (See protein sequence)
Recommended Name: Beta-actin-like protein 2  
Size: 376 amino acids; 42003 Da
Subunit: 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 (By similarity). Interacts with PFN1 and PFDN1
Subcellular location: Cytoplasm, cytoskeleton (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
Secondary accessions: B2RPJ1 Q562R2 Q562S9 Q562X8

Explore the universe of human proteins at neXtProt for ACTBL2: NX_Q562R1

Post-translational modifications:

  • Oxidation of Met-45 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q562R1

  • ACTBL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001017992.1  
    ENSEMBL proteins: 
     ENSP00000416706  

    Human Recombinant Protein Products: 
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    Uscn Proteins for ACTBL2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--


    ACTBL2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ACTBL2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACTBL2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR004001 Actin_CS
     IPR004000 Actin-related
     IPR020902 Actin/actin-like_CS

    Graphical View of Domain Structure for InterPro Entry Q562R1

    ProtoNet protein and cluster: Q562R1

    UniProtKB/Swiss-Prot: ACTBL_HUMAN, Q562R1
    Similarity: Belongs to the actin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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: ACTBL_HUMAN, Q562R1
    Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously
    expressed in all eukaryotic cells (By similarity)

    miRNA
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    hsa-miR-3163 hsa-miR-520d-5p hsa-miR-101* hsa-miR-192 hsa-miR-1270 hsa-miR-620 hsa-miR-524-5p hsa-miR-215
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTBL2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--


    ACTBL2 for ontologies           About GeneDecksing



    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/74 Interacting proteins for ACTBL2 (Q562R13 ENSP000004167064) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2CBP627143, ENSP000002211384I2D: score=1 STRING: ENSP00000221138
    PXKQ7Z7A43, ENSP000003484724I2D: score=1 STRING: ENSP00000348472
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=2 STRING: ENSP00000268607
    GABARAPO951663I2D: score=2 
    GABARAPL1Q9H0R83I2D: score=2 
    About this table

    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACTBL2
    Search CenterWatch for drugs/clinical trials and news about ACTBL2 / ACTBL 

    (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 ACTBL2 gene: 
    NM_001017992.3  

    Unigene Cluster for ACTBL2:

    Actin, beta-like 2
    Hs.482167
    Unigene Representative Sequence: BX648504
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000423391(uc003jrm.3)

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTBL2:
    hsa-miR-3163 hsa-miR-520d-5p hsa-miR-101* hsa-miR-192 hsa-miR-1270 hsa-miR-620 hsa-miR-524-5p hsa-miR-215
    SwitchGear 3'UTR luciferase reporter plasmidACTBL2 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene shRNA RFP: ACTBL2
    OriGene siRNA: ACTBL2
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTBL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTBL2

    Additional cDNA sequence: 

    BC137470.1 BC137473.1 BX648504.1 

    1 DOTS entry:

    DT.101966068 

    2 AceView cDNA sequences:

    BX648504 BP872797 

    GeneLoc Exon Structure


    (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

    ACTBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAATCAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ACTBL2 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.482167
        SABiosciences Custom PCR Arrays for ACTBL2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTBL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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 ACTBL2 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actbl21 , 5 actin, beta-like 21, 5 89.45(n)1
    97.07(a)1
      13 (63.10 cM)5
    2388801  NM_175497.31  NP_780706.11 
     1112550135 
    chicken
    (Gallus gallus)
    Aves ACTG11 actin, gamma 1 82.54(n)
    92.02(a)
      415296  NM_001007824.1  NP_001007825.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    79(a)
    possible ortholog
    GL343721.1(263114-263356)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:867091 zgc:86709 78.34(n)
    88.5(a)
      570210  NM_001002066.1  NP_001002066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act42A1 Actin 42A 76.33(n)
    90.16(a)
      35526  NM_078901.2  NP_523625.1 
    worm
    (Caenorhabditis elegans)
    Secernentea act-16
    act-26
    (see all 4)
    Actin-2
    (see all 4)
    90(a)
    90(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    V(11079149-11082479)
    V(11076719-11078150)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT111 actin-11 72.61(n)
    84.57(a)
      820385  NM_112046.3  NP_187818.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01066001 hypothetical protein 72.52(n)
    84.04(a)
      4337566  NM_001060954.1  NP_001054419.1 


    ENSEMBL Gene Tree for ACTBL2 (if available)
    TreeFam Gene Tree for ACTBL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTBL2 gene
    ACTG22  ACTA22  ACTB2  ACTRT22  ACTR1A2  ACTC12  ACTL92  ACTRT12  
    ACTG12  ACTL7A2  ACTL7B2  ACTR1B2  ACTA12  ACTRT32  
    18/31 SIMAP similar genes for ACTBL2 using alignment to 1 protein entry:     ACTBL_HUMAN(see all similar genes):
    PS1TP5BP1    ACTB    ACTA2    ACTC1    ACTG1    ACT
    POTEE    POTEF    POTEI    POTEJ    POTEKP    ACTG2
    ACTR1B    ACTR1A    ACTRT3    ACTA1    ACTRT1    ACTR2

    ACTBL2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ACTBL2
    PGOHUM00000235509


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/146 NCBI SNPs in ACTBL2 are shown (see all 146    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1473485911,2
    --56775348(+) AATGCA/GTAGTT 1 -- ds50010--------
    rs1394193881,2
    --56775393(+) TGGGGC/TTCTAT 1 -- ds50010--------
    rs737573851,2
    C,--56775432(+) CTGTCC/TCATTT 1 -- ds50014Minor allele frequency- T:0.10WA CSA NA 241
    rs1916994941,2
    --56775501(+) GAATGC/TTTGTG 1 -- ds50010--------
    rs1854702321,2
    --56775528(+) CAAATA/GGAATG 1 -- ds50010--------
    rs1435275481,2
    --56775555(+) TCCAAA/TATATT 1 -- ds50010--------
    rs19797251,2
    C,F,O,A,H,--56775578(-) ACAACA/GTCAAC 1 -- ds500131Minor allele frequency- G:0.30MN NS EA NA WA CSA 3044
    rs1471555341,2
    --56775653(+) TGAGAA/CATCTA 1 -- ds50010--------
    rs1399241281,2
    --56775731(+) ATGAGG/TTGCAA 1 -- ds50010--------
    rs1899464631,2
    --56775830(+) AATAAC/GAGGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ACTBL2 (56775843 - 56778636 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ACTBL2: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ACTBL2 for disorders           About GeneDecksing

    OMIM gene information: 614835    OMIM disorders: --

    4 diseases for ACTBL2:    About MalaCards
    hepatocellular carcinoma    pharyngitis    carcinoma    malaria


    Export disorders for ACTBL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACTBL2 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with ACTBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel actin isoform in hepatocellular carcinoma. (PubMed id 16824795)1, 2 Chang K.-W.... Yeh C.-T. (2006)
    2. Downregulation of b-actin gene and human antigen R in human keratoconus. (PubMed id 22562506)1 Joseph R....Pfister R.R. (2012)
    3. Sp1 phosphorylation by cyclin-dependent kinase 1/cycli n B1 represses its DNA-binding activity during mitosis in cancer cells. (PubMed id 22266860)1 Chuang J.Y....Hung J.J. (2012)
    4. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1 Tao S....Sun J. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 345651 HGNC: 17780 AceView: LOC345651 Ensembl:ENSG00000169067 euGenes: HUgn345651
    ECgene: ACTBL2 H-InvDB: ACTBL2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for ACTBL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACTBL2 gene:
    Search GeneIP for patents involving ACTBL2

    GeneCards and IP:
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    (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),
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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