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CAPZB Gene

protein-coding   GIFtS: 64
GCID: GC01M019665

Capping Protein (Actin Filament) Muscle Z-Line, Beta

  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
Capping Protein (Actin Filament) Muscle Z-Line, Beta1 2
CapZ Beta2 3
CAPPB2 5
CAPB2
CAPZ2
F-Actin-Capping Protein Subunit Beta2

External Ids:    HGNC: 14911   Entrez Gene: 8322   Ensembl: ENSG000000775497   OMIM: 6015725   UniProtKB: P477563   

Export aliases for CAPZB gene to outside databases

Previous GC identifers: GC01M019225 GC01M018690 GC01M018811 GC01M019135 GC01M019134 GC01M019410 GC01M019537 GC01M017911


(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 CAPZB Gene:
This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping
protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly
and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as
well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located
on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms
have been found.(provided by RefSeq, Aug 2013)

GeneCards Summary for CAPZB Gene:
CAPZB (capping protein (actin filament) muscle Z-line, beta) is a protein-coding gene. Diseases associated with CAPZB include posterior uveitis, and uveitis. GO annotations related to this gene include actin binding and beta-tubulin binding.

UniProtKB/Swiss-Prot: CAPZB_HUMAN, P47756
Function: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments
(barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as
gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell
morphology and cytoskeletal organization

Gene Wiki entry for CAPZB 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAPZB gene promoter:
         AML1a   MEF-2   Ik-3   MZF-1   MEF-2A   FAC1   Ik-2   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPZB promoter sequence
   Search Chromatin IP Primers for CAPZB

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


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

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M019665:  view genomic region     (about GC identifiers)

Start:
19,665,267 bp from pter      End:
19,812,066 bp from pter
Size:
146,800 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CAPZB

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CAPZB_HUMAN, P47756 (See protein sequence)
Recommended Name: F-actin-capping protein subunit beta  
Size: 277 amino acids; 31350 Da
Subunit: Heterodimer of an alpha and a beta subunit. Interacts with ARHGAP17 and RCSD1/CAPZIP. Component of the
WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping
protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or
FAM21C), KIAA1033, KIAA0196 and CCDC53
Secondary accessions: Q32Q68 Q5U0L4 Q8TB49 Q9NUC4
Alternative splicing: 3 isoforms:  P47756-1   P47756-2   P47756-3   

Explore the universe of human proteins at neXtProt for CAPZB: NX_P47756

Explore proteomics data for CAPZB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys57, Lys78, Lys95, Lys223, Lys235
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001193469.1  NP_001193470.1  NP_001269091.1  NP_004921.1  

    ENSEMBL proteins: 
     ENSP00000264203   ENSP00000364286   ENSP00000364284   ENSP00000401010   ENSP00000392781  
     ENSP00000400757   ENSP00000383862   ENSP00000264202  
    Reactome Protein details: P47756

    CAPZB Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR019771 F-actin_capping_bsu_CS
     IPR001698 CapZ_beta

    Graphical View of Domain Structure for InterPro Entry P47756

    ProtoNet protein and cluster: P47756

    1 Blocks protein domain: IPB001698 F-actin capping protein

    UniProtKB/Swiss-Prot: CAPZB_HUMAN, P47756
    Similarity: Belongs to the F-actin-capping protein beta subunit family


    CAPZB 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:

         UniProtKB/Swiss-Prot Summary: CAPZB_HUMAN, P47756
    Function: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments
    (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as
    gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell
    morphology and cytoskeletal organization

         Genatlas biochemistry entry for CAPZB:
    actin-capping protein Z,beta subunit 1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS7665558
    GO:0005515protein binding ----
    GO:0048487beta-tubulin binding IEA--
    GO:0051015actin filament binding IEA--
         
    CAPZB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CAPZB:
     Low eccentricity cells  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Capzb):
     behavior/neurological  homeostasis/metabolism  mortality/aging 

    CAPZB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPZB
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPZB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPZB

    miRNA
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    miRTarBase miRNAs that target CAPZB:
    hsa-mir-34a-5p (MIRT025479), hsa-mir-324-3p (MIRT042833), hsa-mir-1915-5p (MIRT035771), hsa-mir-484 (MIRT041682), hsa-mir-3934-5p (MIRT052892), hsa-mir-130b-3p (MIRT020263)

    Block miRNA regulation of human, mouse, rat CAPZB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPZB (see all 12):
    hsa-miR-140-3p hsa-miR-362-3p hsa-miR-4263 hsa-miR-4282 hsa-miR-1297 hsa-miR-329 hsa-miR-587 hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidCAPZB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CAPZB

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    GenScript: all cDNA clones in your preferred vector (see all 3): CAPZB (NM_004930)
    Sino Biological Human cDNA Clone for CAPZB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPZB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPZB

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPZB


    (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
    CAPZB_HUMAN, P47756: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0008290F-actin capping protein complex IEA--
    GO:0014704intercalated disc IEA--

    CAPZB 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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    SuperPaths for CAPZB About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    2Hemostasis
    Hemostasis0.43
    3Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    4Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for CAPZB
        Cell cycle Spindle assembly and chromosome separation
    Cytoskeleton remodeling Neurofilaments


    1 Reactome Pathway for CAPZB
        Factors involved in megakaryocyte development and platelet production



    CAPZB for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAPZB
    Interactions:

        Search GeneGlobe Interaction Network for CAPZB

    Selected Interacting proteins for CAPZB (P477562, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48438 I2D: score=2 
    RIPK3Q9Y5722, 3MINT-49151 I2D: score=2 
    RPP14O950592, 3MINT-8269131 I2D: score=2 
    ENSG00000096150P622693I2D: score=4 
    ENSG00000223367P622693I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS16130169
    GO:0007010cytoskeleton organization IMP--
    GO:0007596blood coagulation TAS--
    GO:0022604regulation of cell morphogenesis IMP--
    GO:0030030cell projection organization ----

    CAPZB for ontologies           About GeneDecksing



    (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 CAPZB



    (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,
    Conferences by KenesGroup, 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 CAPZB gene (4 alternative transcripts): 
    NM_001206540.2  NM_001206541.2  NM_001282162.1  NM_004930.4  

    Unigene Cluster for CAPZB:

    Capping protein (actin filament) muscle Z-line, beta
    Hs.432760  [show with all ESTs]
    Unigene Representative Sequence: NR_038125
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264203(uc009vpk.3) ENST00000375144 ENST00000375142 ENST00000433834
    ENST00000413711 ENST00000459967 ENST00000457768 ENST00000489607 ENST00000482808
    ENST00000401084(uc010ocz.2 uc001bce.3 uc021ohr.1) ENST00000264202

    miRNA
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    Block miRNA regulation of human, mouse, rat CAPZB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPZB (see all 12):
    hsa-miR-140-3p hsa-miR-362-3p hsa-miR-4263 hsa-miR-4282 hsa-miR-1297 hsa-miR-329 hsa-miR-587 hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidCAPZB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CAPZB
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CAPZB (NM_004930)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPZB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPZB
    Primer
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    OriGene qPCR primer pairs and template standards for CAPZB
    OriGene qSTAR qPCR primer pairs in human, mouse for CAPZB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPZB
      QuantiTect SYBR Green Assays in human, mouse, rat CAPZB
      QuantiFast Probe-based Assays in human, mouse, rat CAPZB

    Additional mRNA sequence: 

    AK125085.1 AK301442.1 AK313113.1 BC008095.1 BC012305.1 BC024601.1 BC107752.1 BC109241.1 
    BC109242.1 BT019470.1 BT019471.1 NR_038125.1 U03271.1 

    Selected DOTS entries (see all 38):

    DT.97863846  DT.92461301  DT.85104988  DT.95279935  DT.100881833  DT.100881810  DT.100881814  DT.100881835 
    DT.85101948  DT.95115140  DT.95137668  DT.121420932  DT.40200863  DT.100881832  DT.40116293  DT.95220605 
    DT.97760109  DT.100881812  DT.100881825  DT.121421089  DT.40116290  DT.95187152  DT.95220509  DT.100881816 

    Selected AceView cDNA sequences (see all 819):

    BI524035 AA313312 BM704653 AA665880 BQ219281 BM924883 CR617401 BU521053 
    AL536621 CR592519 BP365445 CD652847 BQ548833 BE274508 CR591278 BI822584 
    AW243714 AI218731 BU730713 BF037407 BI520145 CR603606 AI888034 BM478867 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPZB (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                    -     -     -           -           -     -     -     -     -                       -                                         -     -   
    SP2:                    -     -     -     -     -           -     -     -     -     -                       -                                               -   
    SP3:                    -     -     -     -     -           -     -     -     -     -                       -     -     -     -     -                       -   
    SP4:                                                                                                                                                            
    SP5:                                                        -     -     -     -     -                       -                                                   

    ExUns: 19a · 19b · 19c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for CAPZB

    (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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    CAPZB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAACCAGAC
    CAPZB Expression
    About this image


    CAPZB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CAPZB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPZB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.432760
        Custom PCR Arrays for CAPZB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPZB

    (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 eukaryotes.

    Orthologs for CAPZB gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capzb1 , 5 capping protein (actin filament) muscle Z-line, beta1, 5 92.14(n)1
    98.67(a)1
      4 (70.59 cM)5
    123451  NM_001271405.11  NP_001258334.11 
     1391928995 
    chicken
    (Gallus gallus)
    Aves CAPZB1 capping protein (actin filament) muscle Z-line, beta 88.02(n)
    99.26(a)
      396418  NM_001173529.1  NP_001167000.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPZB6
    capping protein (actin filament) muscle Z-line, be...
    94(a)
    1 ↔ 1
    GL343959.1(15482-15577)
    African clawed frog
    (Xenopus laevis)
    Amphibia capzb-prov2 capping protein beta 1 83.86(n)    BC041233.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk65f062 wufk65f06 78.97(n)   335083  BC055514.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cpb1 , 3 F-actin capping3
    capping protein beta1
    81(a)3
    70.9(n)1
    81.72(a)1
      2 22B13
    333461  NM_057657.51  NP_477005.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cap-21 , 3 F-actin capping protein beta subunit3
    cap-21
    66(a)3
    62.52(n)1
    67.17(a)1
      II(10869140-10870324)3
    1746731  NM_063935.61  NP_496336.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAP2(YIL034C)4
    CAP21
    Beta subunit of the capping protein (CP) heterodimer more4
    CAP21
    51.84(n)1
    50.95(a)1
      9(290089-289226)4
    8547771, 4  NP_012230.31  NP_012230.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G717901 AT1G71790 56.84(n)
    54.7(a)
      843509  NM_105837.3  NP_177324.2 
    rice
    (Oryza sativa)
    Liliopsida Os.157642 Oryza sativa (japonica cultivar-group) cDNA clone0 more 75.41(n)    AK061302.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for CAPZB (see all 3452)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113889081,2
    C--17963936(+) TTTTTT/-CTTAA 3 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs347834741,2
    C--17965374(+) GAATT-/AA/AAA
            
    AAAAA
    5 -- int1 cds11NA 2
    rs358737171,2
    C--17978386(+) GAGGC-/AAAAAA 3 -- int10--------
    rs1413575511,2
    C--18015409(+) TCTCA-/CACT  
            
    CACAC
    3 -- int10--------
    rs1399627321,2
    C--18032821(+) CCTTT-/AAGTG 
            
    AAAAG
    3 -- int10--------
    rs44957311,2
    C--18049027(+) agataA/C/Ggcagg 3 -- int10--------
    rs114501291,2
    C--18057116(+) CCCCC-/CAAGGC 3 -- int1 nc-transcript-variant0--------
    rs2005266781,2
    --18057119(+) GGCCC-/TCCCAA 3 -- int1 nc-transcript-variant0--------
    rs585025911,2
    C--19664851(+) GGGGG-/GATGGT 3 -- int1 ds50010--------
    rs1122965881,2
    C--19673536(+) TGCCAC/TGTTGG 3 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for CAPZB (19665267 - 19812066 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CAPZB (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744874CNV Deletion23290073
    esv2744841CNV Deletion23290073
    esv3747CNV Deletion18987735
    esv2744852CNV Deletion23290073
    esv2744863CNV Deletion23290073
    esv2398290CNV Deletion18987734
    dgv26e199CNV Deletion23128226
    esv2744885CNV Deletion23290073
    nsv5409CNV Insertion18451855
    nsv871933CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAPZB
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPZB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601572    OMIM disorders: --

    17 diseases for CAPZB:    
    About MalaCards
    posterior uveitis    uveitis    goiter    choroiditis
    psoriasis    crohn's disease    chronic lymphocytic leukemia    tonsillitis
    thyroiditis    retinitis    endotheliitis    leukemia
    breast cancer    cerebritis    malaria    prostatitis
    neuronitis


    CAPZB for disorders           About GeneDecksing

    Genetic Association Database (GAD): CAPZB
    Human Genome Epidemiology (HuGE) Navigator: CAPZB (2 documents)

    Export disorders for CAPZB 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 CAPZB gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with CAPZB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. (PubMed id 7665558)1, 2, 9 Barron-Casella E.A.... Casella J.F. (J. Biol. Chem. 1995)
    2. Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. (PubMed id 22494929)1, 4 Rawal R....Homuth G. (Hum. Mol. Genet. 2012)
    3. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. (PubMed id 21565293)1, 4 Teumer A....VAPlzke H. (Am. J. Hum. Genet. 2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (Dev. Cell 2009)
    6. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)1, 2 Wells C.D.... Pawson T. (Cell 2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. 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)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (PubMed id 23408906)1 Porcu E....Naitza S. (PLoS Genet. 2013)

    (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: 832 HGNC: 1491 AceView: CAPZB Ensembl:ENSG00000077549 euGenes: HUgn832
    ECgene: CAPZB H-InvDB: CAPZB

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CAPZB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CAPZB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CAPZB gene:
    Search GeneIP for patents involving CAPZB

    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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