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Aliases for CAPZB Gene

Aliases for CAPZB Gene

  • Capping Actin Protein Of Muscle Z-Line Beta Subunit 2 3 5
  • Capping Protein (Actin Filament) Muscle Z-Line, Beta 2 3
  • CapZ Beta 3 4
  • F-Actin-Capping Protein Subunit Beta 3
  • CAPPB 3
  • CAPZ 3
  • CAPB 3

External Ids for CAPZB Gene

Previous GeneCards Identifiers for CAPZB Gene

  • GC01M019225
  • GC01M018690
  • GC01M018811
  • GC01M019135
  • GC01M019134
  • GC01M019410
  • GC01M019537
  • GC01M019665
  • GC01M017911

Summaries for CAPZB Gene

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 Actin Protein Of Muscle Z-Line Beta Subunit) is a Protein Coding gene. Diseases associated with CAPZB include Epithelioid Sarcoma. Among its related pathways are MAPK-Erk Pathway and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include actin binding and beta-tubulin binding.

UniProtKB/Swiss-Prot for CAPZB Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPZB Gene

Genomics for CAPZB Gene

Regulatory Elements for CAPZB Gene

Enhancers for CAPZB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F019432 1.6 FANTOM5 Ensembl ENCODE 24.2 +33.8 33800 39.4 HDGF PKNOX1 ARNT MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 CAPZB NBL1 OTUD3 RNU4-28P HTR6 AKR7A2 EMC1 AKR7A3 PQLC2 UBR4
GH01F019422 0.9 Ensembl ENCODE 23.4 +58.6 58561 8.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 FOS SP5 NFYC CAPZB OTUD3 RNU4-28P HTR6 AKR7A2 RN7SL277P PIR41915
GH01F019383 0.8 Ensembl ENCODE 22.9 +99.8 99805 4.6 PKNOX1 ARID4B DMAP1 ZNF48 SLC30A9 ZNF143 SP5 JUNB TBX21 KAT8 CAPZB AKR7A2 LOC105378614 MINOS1 RNU4-28P NBL1 HTR6 PQLC2 LOC644083 GC01P019361
GH01F019368 1.1 Ensembl ENCODE 20.7 +111.9 111891 10.5 BCOR CTCF TFAP4 ZMYM3 ZNF2 RAD21 TEAD3 ZNF121 ZNF366 SCRT2 CAPZB PQLC2 AKR7A2 RNU6-1099P HTR6 RNU4-28P NBL1 GC01P019361 LOC644083
GH01F019362 0.7 ENCODE 18.9 +121.8 121788 2.4 BCOR ZNF680 CBX5 ZMYM3 CAPZB PQLC2 AKR7A2 RNU6-1099P RNU4-28P AKR7L GC01P019361 LOC644083
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CAPZB on UCSC Golden Path with GeneCards custom track

Promoters for CAPZB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000531897 341 3001 HDGF CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207

Genomic Location for CAPZB Gene

Chromosome:
1
Start:
19,338,773 bp from pter
End:
19,485,641 bp from pter
Size:
146,869 bases
Orientation:
Minus strand

Genomic View for CAPZB Gene

Genes around CAPZB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPZB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPZB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPZB Gene

Proteins for CAPZB Gene

  • Protein details for CAPZB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47756-CAPZB_HUMAN
    Recommended name:
    F-actin-capping protein subunit beta
    Protein Accession:
    P47756
    Secondary Accessions:
    • Q32Q68
    • Q5U0L4
    • Q8TB49
    • Q9NUC4

    Protein attributes for CAPZB Gene

    Size:
    277 amino acids
    Molecular mass:
    31350 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for CAPZB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPZB Gene

Post-translational modifications for CAPZB Gene

  • Ubiquitination at Lys 57, Lys 78, Lys 95, Lys 223, Lys 235, and Lys 254
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CAPZB Gene

Domains & Families for CAPZB Gene

Protein Domains for CAPZB Gene

Graphical View of Domain Structure for InterPro Entry

P47756

UniProtKB/Swiss-Prot:

CAPZB_HUMAN :
  • Belongs to the F-actin-capping protein beta subunit family.
Family:
  • Belongs to the F-actin-capping protein beta subunit family.
genes like me logo Genes that share domains with CAPZB: view

No data available for Gene Families for CAPZB Gene

Function for CAPZB Gene

Molecular function for CAPZB Gene

GENATLAS Biochemistry:
actin-capping protein Z,beta subunit 1
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CAPZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 7665558
GO:0048487 beta-tubulin binding IEA --
GO:0051015 actin filament binding IBA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with CAPZB: view
genes like me logo Genes that share phenotypes with CAPZB: view

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAPZB Gene

Localization for CAPZB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPZB Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPZB Gene COMPARTMENTS Subcellular localization image for CAPZB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 3
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CAPZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0005884 actin filament IBA --
GO:0005903 brush border IEA --
genes like me logo Genes that share ontologies with CAPZB: view

Pathways & Interactions for CAPZB Gene

genes like me logo Genes that share pathways with CAPZB: view

Pathways by source for CAPZB Gene

1 Sino Biological pathway for CAPZB Gene
1 KEGG pathway for CAPZB Gene

Gene Ontology (GO) - Biological Process for CAPZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0007010 cytoskeleton organization IMP 21834987
GO:0007596 blood coagulation TAS --
GO:0010591 regulation of lamellipodium assembly IBA --
GO:0022604 regulation of cell morphogenesis IMP 21834987
genes like me logo Genes that share ontologies with CAPZB: view

No data available for SIGNOR curated interactions for CAPZB Gene

Transcripts for CAPZB Gene

Unigene Clusters for CAPZB Gene

Capping protein (actin filament) muscle Z-line, beta:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPZB Gene

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: - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - -
SP10: -
SP11: - -

ExUns: 19a · 19b · 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CAPZB Gene

GeneLoc Exon Structure for
CAPZB
ECgene alternative splicing isoforms for
CAPZB

Expression for CAPZB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPZB Gene

mRNA differential expression in normal tissues according to GTEx for CAPZB Gene

This gene is overexpressed in Whole Blood (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAPZB Gene



Protein tissue co-expression partners for CAPZB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAPZB Gene:

CAPZB

SOURCE GeneReport for Unigene cluster for CAPZB Gene:

Hs.432760
genes like me logo Genes that share expression patterns with CAPZB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CAPZB Gene

Orthologs for CAPZB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAPZB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPZB 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia CAPZB 34 35
  • 93.91 (n)
rat
(Rattus norvegicus)
Mammalia Capzb 34
  • 92.87 (n)
cow
(Bos Taurus)
Mammalia CAPZB 34 35
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Capzb 34 16 35
  • 92.14 (n)
oppossum
(Monodelphis domestica)
Mammalia CAPZB 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPZB 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPZB 34 35
  • 88.02 (n)
lizard
(Anolis carolinensis)
Reptilia CAPZB 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6774 34
African clawed frog
(Xenopus laevis)
Amphibia capzb-prov 34
zebrafish
(Danio rerio)
Actinopterygii capzb 34 35
  • 79.38 (n)
wufk65f06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11173 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007864 34
  • 72.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta cpb 36 34 35
  • 70.9 (n)
worm
(Caenorhabditis elegans)
Secernentea cap-2 36 34 35
  • 62.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL101C 34
  • 54.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAP2 34 35 37
  • 51.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04225g 34
  • 50.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G71790 34
  • 56.84 (n)
rice
(Oryza sativa)
Liliopsida Os03g0381200 34
  • 58.33 (n)
Os.15764 34
corn
(Zea mays)
Liliopsida Zm.12180 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6107 35
  • 73 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07471 34
  • 58.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes acp2 34
  • 53.17 (n)
Species where no ortholog for CAPZB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPZB Gene

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

Paralogs for CAPZB Gene

No data available for Paralogs for CAPZB Gene

Variants for CAPZB Gene

Sequence variations from dbSNP and Humsavar for CAPZB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1002365 -- 19,470,754(-) TGCCA(A/G)TAAGT intron-variant
rs10082330 -- 19,387,728(+) cattt(C/T)acttc intron-variant
rs10157298 -- 19,475,573(+) ACCCC(A/G)CTCGG intron-variant
rs10158076 -- 19,409,577(+) GTTAA(C/G)AGCCC intron-variant, upstream-variant-2KB
rs10158117 -- 19,440,253(+) GGCTG(C/G)TCTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAPZB Gene

Variant ID Type Subtype PubMed ID
dgv21e212 CNV loss 25503493
dgv26e199 CNV deletion 23128226
esv2398290 CNV deletion 18987734
esv3553122 CNV deletion 23714750
esv3577761 CNV loss 25503493
esv3577762 CNV loss 25503493
esv3585397 CNV loss 21293372
esv3747 CNV loss 18987735
esv6224 CNV loss 19470904
nsv1014816 CNV loss 25217958
nsv1069009 CNV deletion 25765185
nsv1075274 CNV deletion 25765185
nsv1111049 CNV deletion 24896259
nsv1144333 CNV deletion 24896259
nsv471771 CNV loss 16327809
nsv5409 CNV insertion 18451855
nsv834358 CNV loss 17160897

Variation tolerance for CAPZB Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPZB Gene

Human Gene Mutation Database (HGMD)
CAPZB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPZB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPZB Gene

Disorders for CAPZB Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPZB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epithelioid sarcoma
  • epithelioid cell sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search CAPZB in MalaCards View complete list of genes associated with diseases

Relevant External Links for CAPZB

Genetic Association Database (GAD)
CAPZB
Human Genome Epidemiology (HuGE) Navigator
CAPZB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPZB
genes like me logo Genes that share disorders with CAPZB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPZB Gene

Publications for CAPZB Gene

  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. (PMID: 7665558) Barron-Casella E.A. … Casella J.F. (J. Biol. Chem. 1995) 3 4 22 64
  2. Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. (PMID: 22494929) Rawal R. … Homuth G. (Hum. Mol. Genet. 2012) 3 46 64
  3. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. (PMID: 21565293) Teumer A. … VAPlzke H. (Am. J. Hum. Genet. 2011) 3 46 64
  4. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CAPZB Gene

Sources for CAPZB Gene

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