This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative spl... See more...

Aliases for ACTR3B Gene

Aliases for ACTR3B Gene

  • Actin Related Protein 3B 2 3 5
  • ARP11 2 3 4
  • ARP3 Actin Related Protein 3 Homolog B 2 3
  • Actin-Related Protein ARP4 3 4
  • Actin-Related Protein 3B 3 4
  • Actin-Like Protein 3B 3 4
  • ARP3-Beta 3 4
  • ARP3 Actin-Related Protein 3 Homolog B (Yeast) 2
  • Actin-Related Protein 3-Beta 3
  • Actin-Related Protein Arp11 3
  • ARP3BETA 3
  • ARP3beta 2
  • ACTR3B 5
  • ARP4 4

External Ids for ACTR3B Gene

Previous GeneCards Identifiers for ACTR3B Gene

  • GC07P151895
  • GC07P152087
  • GC07P152456
  • GC07P146267

Summaries for ACTR3B Gene

Entrez Gene Summary for ACTR3B Gene

  • This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for ACTR3B Gene

ACTR3B (Actin Related Protein 3B) is a Protein Coding gene. Diseases associated with ACTR3B include Neuronopathy, Distal Hereditary Motor, Type I and Charcot-Marie-Tooth Disease, X-Linked Recessive, 3. Among its related pathways are Development Slit-Robo signaling and G-protein signaling RAC1 in cellular process. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ACTR3.

UniProtKB/Swiss-Prot Summary for ACTR3B Gene

  • Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors.

Gene Wiki entry for ACTR3B Gene

Additional gene information for ACTR3B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTR3B Gene

Genomics for ACTR3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTR3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J152759 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.9 893 3.3 SP1 CREB1 HNRNPL ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 POLR2A ACTR3B lnc-XRCC2-12 SEPTIN7P6 KMT2C piR-32285-088 DPP6
GH07J152462 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.7 -295.7 -295748 3.6 SP1 HNRNPL PRDM10 ZNF629 TFE3 ZNF512 IKZF1 POLR2A ZNF692 ZNF7 LINC01003 lnc-KMT2C-5 KMT2C XRCC2 ACTR3B MG828735 RF00017-6768 RF00017-6767 RF00017-6770 RF00017-6772
GH07J152803 Enhancer 0.7 Ensembl dbSUPER 8.9 +44.8 44752 2.6 SCRT2 NFE2 MAFG ZNF18 ZSCAN16 FEZF1 ZNF121 ACTR3B RF00017-6780 NONHSAG049206.2 DPP6
GH07J152784 Enhancer 0.5 Ensembl 6.2 +25.3 25251 0.4 ZNF316 MAFG ETV1 EMSY MAFK NONHSAG049206.2 ACTR3B RF00017-6780 DPP6
GH07J152808 Enhancer 0.3 Ensembl dbSUPER 6.2 +49.9 49852 1.6 ACTR3B RF00017-6780 NONHSAG049206.2 DPP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTR3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTR3B

Top Transcription factor binding sites by QIAGEN in the ACTR3B gene promoter:
  • c-Myc
  • E4BP4
  • Lmo2
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RelA
  • Sp1

Genomic Locations for ACTR3B Gene

Genomic Locations for ACTR3B Gene
chr7:152,759,749-153,070,979
(GRCh38/hg38)
Size:
311,231 bases
Orientation:
Plus strand
chr7:152,456,834-152,552,463
(GRCh37/hg19)
Size:
95,630 bases
Orientation:
Plus strand

Genomic View for ACTR3B Gene

Genes around ACTR3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTR3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTR3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTR3B Gene

Proteins for ACTR3B Gene

  • Protein details for ACTR3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1U1-ARP3B_HUMAN
    Recommended name:
    Actin-related protein 3B
    Protein Accession:
    Q9P1U1
    Secondary Accessions:
    • A8MTG1
    • B4DFW4
    • Q7Z526
    • Q96BT2

    Protein attributes for ACTR3B Gene

    Size:
    418 amino acids
    Molecular mass:
    47608 Da
    Quaternary structure:
    • Interacts with the Arp2/3 complex composed of ARP2, ARP3, ARPC1B, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC.
    SequenceCaution:
    • Sequence=AAP97150.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ACTR3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTR3B Gene

Post-translational modifications for ACTR3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACTR3B Gene

Domains & Families for ACTR3B Gene

Gene Families for ACTR3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACTR3B Gene

InterPro:
Blocks:
  • Actin/actin-like
ProtoNet:

Suggested Antigen Peptide Sequences for ACTR3B Gene

GenScript: Design optimal peptide antigens:
  • Actin-related protein ARP4 (ARP3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P1U1

UniProtKB/Swiss-Prot:

ARP3B_HUMAN :
  • Belongs to the actin family. ARP3 subfamily.
Family:
  • Belongs to the actin family. ARP3 subfamily.
genes like me logo Genes that share domains with ACTR3B: view

Function for ACTR3B Gene

Molecular function for ACTR3B Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors.

Phenotypes From GWAS Catalog for ACTR3B Gene

Gene Ontology (GO) - Molecular Function for ACTR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005524 ATP binding IEA --
GO:0051015 contributes_to actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with ACTR3B: view
genes like me logo Genes that share phenotypes with ACTR3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTR3B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTR3B Gene

Localization for ACTR3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTR3B Gene

Cytoplasm, cytoskeleton. Cell projection.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTR3B gene
Compartment Confidence
extracellular 4
cytoskeleton 3
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005885 Arp2/3 protein complex IEA --
GO:0042995 cell projection IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with ACTR3B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTR3B Gene

Pathways & Interactions for ACTR3B Gene

PathCards logo

SuperPathways for ACTR3B Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.37
2 G-protein signaling RAC1 in cellular process
.37
.37
3 Development Slit-Robo signaling
.44
.44
4 Immune response CCR3 signaling in eosinophils
.51
.51
5 Immune response Role of DAP12 receptors in NK cells
.32
.32
genes like me logo Genes that share pathways with ACTR3B: view

Pathways by source for ACTR3B Gene

2 KEGG pathways for ACTR3B Gene
14 GeneGo (Thomson Reuters) pathways for ACTR3B Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cytoskeleton remodeling CDC42 in cellular processes
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling

Gene Ontology (GO) - Biological Process for ACTR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0008150 biological_process ND --
GO:0034314 Arp2/3 complex-mediated actin nucleation IEA --
genes like me logo Genes that share ontologies with ACTR3B: view

No data available for SIGNOR curated interactions for ACTR3B Gene

Drugs & Compounds for ACTR3B Gene

No Compound Related Data Available

Transcripts for ACTR3B Gene

mRNA/cDNA for ACTR3B Gene

9 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTR3B

Alternative Splicing Database (ASD) splice patterns (SP) for ACTR3B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1:
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: -

Relevant External Links for ACTR3B Gene

GeneLoc Exon Structure for
ACTR3B

Expression for ACTR3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTR3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTR3B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.9).

Protein differential expression in normal tissues from HIPED for ACTR3B Gene

This gene is overexpressed in Adipocyte (17.8), Tlymphocyte (11.0), Cervix (9.0), and Monocytes (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTR3B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTR3B

SOURCE GeneReport for Unigene cluster for ACTR3B Gene:

Hs.647117

mRNA Expression by UniProt/SwissProt for ACTR3B Gene:

Q9P1U1-ARP3B_HUMAN
Tissue specificity: Detected in fetal brain. Detected throughout the adult brain, in neurons from gray matter, but not in white matter. Detected in liver, skeletal muscle and pancreas. Detected in lung adenocarcinoma cells with low metastatic potential, but not in lung adenocarcinoma cells with high metastatic potential.

Evidence on tissue expression from TISSUES for ACTR3B Gene

  • Nervous system(4.8)
  • Blood(4.3)
  • Skin(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ACTR3B: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTR3B Gene

Orthologs for ACTR3B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTR3B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACTR3B 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTR3B 31
  • 99 (a)
OneToOne
ACTR3 30
  • 91.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 98 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 97 (a)
OneToMany
ACTR3B 30
  • 88.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Actr3b 30
  • 90.91 (n)
Mouse
(Mus musculus)
Mammalia Actr3b 30 17 31
  • 89.87 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 96 (a)
OneToMany
ACTR3B 30
  • 84.05 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 84 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii actr3b 31
  • 85 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Arp66B 31
  • 76 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea arx-1 31
  • 69 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP3 31 33
  • 55 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DIS1 30
  • 59.82 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0596900 30
  • 58.23 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.22891 30
Corn
(Zea mays)
Liliopsida Zm.1412 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 81 (a)
OneToMany
Species where no ortholog for ACTR3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)

Evolution for ACTR3B Gene

ENSEMBL:
Gene Tree for ACTR3B (if available)
TreeFam:
Gene Tree for ACTR3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTR3B: view image

Paralogs for ACTR3B Gene

Variants for ACTR3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTR3B Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs2260545 - p.Arg250Gln

Additional dbSNP identifiers (rs#s) for ACTR3B Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTR3B Gene

Variant ID Type Subtype PubMed ID
dgv1340e214 CNV gain 21293372
dgv3695n106 OTHER inversion 24896259
esv2735460 CNV deletion 23290073
esv3615526 CNV gain 21293372
esv3615528 CNV gain 21293372
esv3615531 CNV gain 21293372
esv3615532 CNV gain 21293372
nsv1067934 OTHER inversion 25765185
nsv1076019 CNV deletion 25765185
nsv1133676 CNV deletion 24896259
nsv1151906 OTHER inversion 26484159
nsv475132 CNV novel sequence insertion 20440878
nsv831193 CNV loss 17160897
nsv966912 CNV duplication 23825009
nsv966913 CNV duplication 23825009
nsv970617 CNV duplication 23825009
nsv970977 CNV duplication 23825009
nsv970978 CNV duplication 23825009
nsv981617 CNV duplication 23825009

Variation tolerance for ACTR3B Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTR3B Gene

Human Gene Mutation Database (HGMD)
ACTR3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTR3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTR3B Gene

Disorders for ACTR3B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACTR3B Gene - From: DISEASES and Novoseek

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACTR3B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACTR3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTR3B Gene

Publications for ACTR3B Gene

  1. ARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells. (PMID: 10806390) Jay P … Berta P (European journal of biochemistry 2000) 2 3 4 23
  2. Expression of the Arp11 gene suppresses the tumorigenicity of PC-14 human lung adenocarcinoma cells. (PMID: 14651955) Shindo-Okada N … Iigo M (Biochemical and biophysical research communications 2003) 3 4 23
  3. Isolation of a novel actin-related gene expressed in low-metastatic PC-14 human lung adenocarcinoma. (PMID: 11162478) Shindo-Okada N … Shimizu K (Biochemical and biophysical research communications 2001) 3 4 23
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ACTR3B Gene

  • Signalway Proteins for ACTR3B

Sources for ACTR3B Gene