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ACTL7B Gene

protein-coding   GIFtS: 49
GCID: GC09M111616

Actin-Like 7B

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Actin-Like 7B1 2
Tact12
Actin-Like 7-Beta2
Actin-Like Protein 7B2
actin-like-7-beta2
Actin-like-7-beta3

External Ids:    HGNC: 1621   Entrez Gene: 108802   Ensembl: ENSG000001481567   OMIM: 6043045   UniProtKB: Q9Y6143   

Export aliases for ACTL7B gene to outside databases

Previous GC identifers: GC09M102415 GC09M103349 GC09M105074 GC09M106996 GC09M108696 GC09M110657 GC09M081216


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACTL7B Gene:
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant
amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an
ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular
transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene,
ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the
familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with
this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike
ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ACTL7B Gene:
ACTL7B (actin-like 7B) is a protein-coding gene. Diseases associated with ACTL7B include riley-day syndrome, and hypertensive nephropathy. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL8.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTL7B gene promoter:
         ATF-2   HNF-4alpha2   Nkx2-5   HNF-4alpha1   HNF-1A   HEN1   CRE-BP1   E2F-1   E2F   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTL7B promoter sequence
   Search Chromatin IP Primers for ACTL7B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTL7B


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

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31

ACTL7B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTL7B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M111616:  view genomic region     (about GC identifiers)

Start:
111,616,868 bp from pter      End:
111,619,239 bp from pter
Size:
2,372 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACL7B_HUMAN, Q9Y614 (See protein sequence)
Recommended Name: Actin-like protein 7B  
Size: 415 amino acids; 45234 Da
Secondary accessions: B2R9Q2 Q5JSV1

Explore the universe of human proteins at neXtProt for ACTL7B: NX_Q9Y614

Explore proteomics data for ACTL7B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACTL7B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006677.1  
    ENSEMBL proteins: 
     ENSP00000363799  

    ACTL7B Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027680 ACTL7B
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry Q9Y614

    ProtoNet protein and cluster: Q9Y614

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACL7B_HUMAN, Q9Y614
    Similarity: Belongs to the actin family


    ACTL7B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for ACTL7B:
    actin-like 7B,located in a "head to head" orientation with ACTL7A from the HSAN3 region,only detected in testis
    and to a lasser extent in prostate,mouse A2p7b ortholog,ARP actin-related proteins superfamily

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS10373328
         
    ACTL7B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTL7B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTL7B
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    miRNA
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    hsa-miR-3607-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACTL7B

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTL7B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACL7B_HUMAN, Q9Y614: Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0015629actin cytoskeleton TAS10373328

    ACTL7B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTL7B
    Interactions:

        Search GeneGlobe Interaction Network for ACTL7B

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

    Selected Interacting proteins for ACTL7B (ENSP000003637994) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNHIT1ENSP000003045934STRING: ENSP00000304593
    ACTR5ENSP000002439034STRING: ENSP00000243903
    ACTR8ENSP000003368424STRING: ENSP00000336842
    VPS72ENSP000003578874STRING: ENSP00000357887
    LCP1ENSP000003157574STRING: ENSP00000315757
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACTL7B (ACL7B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACTL7B gene: 
    NM_006686.3  

    Unigene Cluster for ACTL7B:

    Actin-like 7B
    Hs.534390  [show with all ESTs]
    Unigene Representative Sequence: AK097670
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374667(uc004bdi.3)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ACTL7B:
    hsa-miR-3607-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ACTL7B
    Predesigned siRNA for gene silencing in human, mouse, rat ACTL7B
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    Primer
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    OriGene qPCR primer pairs and template standards for ACTL7B
    OriGene qSTAR qPCR primer pairs in human, mouse for ACTL7B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACTL7B
      QuantiTect SYBR Green Assays in human, mouse, rat ACTL7B
      QuantiFast Probe-based Assays in human, mouse, rat ACTL7B

    Additional mRNA sequence: 

    AK097670.1 AK313871.1 BC033789.1 

    1 DOTS entry:

    DT.409434 

    Selected AceView cDNA sequences (see all 50):

    BP370429 BI829581 AK097670 BI829795 AI150101 BC033789 BI829210 BM560148 
    BP369276 BG722902 AI150021 BI827603 BI826122 NM_006686 BP369173 BI827279 
    AI150270 CD358827 BG771935 BI827789 BI825199 BG723998 BG721703 BP371519 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACTL7B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGAGACCT
    ACTL7B Expression
    About this image


    ACTL7B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Mature Sertoli Cells Seminiferous Tubules
             Testis Interstitium
    ACTL7B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTL7B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534390

    UniProtKB/Swiss-Prot: ACL7B_HUMAN, Q9Y614
    Tissue specificity: Detected only in the testis and, to a lesser extent, in the prostate

        Custom PCR Arrays for ACTL7B
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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACTL7B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actl7b1 , 5 actin-like 7b1, 5 85.02(n)1
    86.96(a)1
      4 (31.66 cM)5
    114711  NM_025271.21  NP_079547.21 
     567400055 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.195662 Xenopus laevis transcribed sequence with weak similarity more 73.09(n)    BQ387399.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARP26
    Essential component of the Arp2/3 complex, which i...
    32(a)
    1 → many
    IV(399340-400638) YDL029W


    ENSEMBL Gene Tree for ACTL7B (if available)
    TreeFam Gene Tree for ACTL7B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTL7B gene
    ACTL82  ACTL7A2  ACTL92  ACTR22  ACTL102  
    Selected SIMAP similar genes for ACTL7B using alignment to 2 protein entries:     ACL7B_HUMAN (see all proteins) (see all similar genes):
    ACTL7A    POTEI    POTEM    ACTG1    ACTB    POTEE
    POTEF    POTEJ    POTEKP    PS1TP5BP1    ACTA2    ACTC1
    ACTG2    ACTRT2    ACTBL2    ACTR1A    ACTR1B    ACTRT1

    ACTL7B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACTL7B (see all 140)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147994391,2
    C,F--111616424(+) GCCTTA/GGGCTC 1 -- ds50011Minor allele frequency- G:0.09WA 118
    rs1860645661,2
    --111616532(+) GACTGA/GAGTCG 1 -- ds50010--------
    rs120048451,2
    C,F,H--111616788(+) AAAAGG/ATGCTG 1 -- ds50015Minor allele frequency- A:0.01NS EA NA 414
    rs1898276311,2
    C--111616796(+) CTGCCG/TCTTCT 1 -- ds50010--------
    rs1165740131,2
    C,F--111616807(+) AAGCCC/TGACTC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs37504661,2
    C,F,A,H--111616818(+) CCCCCC/TACCCT 1 -- ds500125Minor allele frequency- T:0.25NS EA WA NA CSA 2356
    rs1505673541,2
    C--111616955(+) GAAATG/TCCGAG 1 -- ut310--------
    rs1141438301,2
    C,F--111617174(+) GCATAG/CTGCAG 2 /T /S mis14Minor allele frequency- C:0.00EU WA NA 4919
    rs2000303851,2
    C--111617294(+) CCAGGC/GAGGGC 2 S C mis10--------
    rs1144221741,2
    C--111617296(+) AGGGAG/AGGCTG 2 /P syn11Minor allele frequency- A:0.01WA 182

    HapMap Linkage Disequilibrium report for ACTL7B (111616868 - 111619239 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ACTL7B: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTL7B
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTL7B

    (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.)
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    OMIM gene information: 604304    OMIM disorders: --

    7 diseases for ACTL7B:    
    About MalaCards
    riley-day syndrome    hypertensive nephropathy    dysautonomia    male infertility
    infertility    hypertension    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ACTL7B:
    Riley-Day syndrome

    ACTL7B for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ACTL7B (1 document)

    Export disorders for ACTL7B 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)
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    PubMed articles for ACTL7B gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ACTL7B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping, and expression of two novel actin genes, actin- like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. (PubMed id 10373328)1, 2, 3, 9 Chadwick B.P.... Slaugenhaupt S.A. (Genomics 1999)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    5. Methylation of CpG dinucleotides in the open reading frame of a testicular germ cell-specific intronless gene, Tact1/Actl7b, represses its expression in somatic cells. (PubMed id 12907721)1, 3 Hisano M....Nozaki M. (Nucleic Acids Res. 2003)
    6. Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. (PubMed id 23776197)1 Leandro-GarcA-a L.J....RodrA-guez-Antona C. (J. Med. Genet. 2013)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Single nucleotide polymorphisms: discovery of the genetic causes of male infertility. (PubMed id 17644991)2 Tanaka H.... Nishimune Y. (Soc. Reprod. Fertil. Suppl. 2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10880 HGNC: 162 AceView: ACTL7B Ensembl:ENSG00000148156 euGenes: HUgn10880
    ECgene: ACTL7B H-InvDB: ACTL7B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACTL7B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTL7B gene:
    Search GeneIP for patents involving ACTL7B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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