Aliases for ACTBL2 Gene

Aliases for ACTBL2 Gene

  • Actin Beta Like 2 2 3 5
  • Beta-Actin-Like Protein 2 3 4
  • Kappa-Actin 3 4
  • Actin, Beta-Like 2 2
  • Actin-Like Protein 3
  • DKFZp686D0972 2
  • ACTBL2 5
  • ACT 3

External Ids for ACTBL2 Gene

Previous GeneCards Identifiers for ACTBL2 Gene

  • GC00U921642
  • GC05M056813
  • GC05M053748

Summaries for ACTBL2 Gene

GeneCards Summary for ACTBL2 Gene

ACTBL2 (Actin Beta Like 2) is a Protein Coding gene. Diseases associated with ACTBL2 include Giant Axonal Neuropathy and Cataract 48. An important paralog of this gene is ACTB.

UniProtKB/Swiss-Prot Summary for ACTBL2 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Additional gene information for ACTBL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTBL2 Gene

Genomics for ACTBL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTBL2 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
GH05J057481 Enhancer 0.9 Ensembl ENCODE 600.7 +0.1 135 1.5 ATF7 ZNF629 PRDM1 ZNF639 CEBPB ZSCAN5C JUN ATF2 JUND EP300 ACTBL2 LOC102724122 lnc-GPBP1-5 ENSG00000250961 GPBP1
GH05J057433 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12 +44.2 44183 10.3 PRDM10 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 JUND FOXA1 ZIC2 ZSCAN4 MIER3 ACTBL2 ENSG00000250961 GPBP1 lnc-GPBP1-5
GH05J057315 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.8 +165.6 165627 3.6 ZNF140 JUND ZXDB CEBPB FOS ZNF623 NR2F2 ZBTB11 ZFHX2 NR2F1 piR-38776-002 piR-34179 MIER3 ENSG00000271828 RPL26P19 ACTBL2 ENSG00000248586 LOC100288510 HSALNG0041999 GPBP1
GH05J057331 Enhancer 1 Ensembl ENCODE dbSUPER 9.7 +148.2 148193 5.6 ZNF629 FOXA1 REST ZNF600 ATF7 SP1 CTBP1 ATF3 FOXA2 OSR2 ACTBL2 RF00017-4638 LOC100288510 GPBP1
GH05J057408 Enhancer 1 FANTOM5 Ensembl ENCODE 10.1 +74.1 74104 1.4 SP1 CEBPB YY1 ZBTB33 JUND NR2F2 RAD21 HNF4A RXRA MAX ACTBL2 ENSG00000250961 piR-57460-549 GPBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTBL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTBL2

Top Transcription factor binding sites by QIAGEN in the ACTBL2 gene promoter:
  • AML1a
  • AREB6
  • FOXF2
  • ITF-2
  • LUN-1
  • Pax-5
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for ACTBL2 Gene

Genomic Locations for ACTBL2 Gene
chr5:57,480,018-57,482,811
(GRCh38/hg38)
Size:
2,794 bases
Orientation:
Minus strand
chr5:56,775,843-56,778,636
(GRCh37/hg19)
Size:
2,794 bases
Orientation:
Minus strand

Genomic View for ACTBL2 Gene

Genes around ACTBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTBL2 Gene

Proteins for ACTBL2 Gene

  • Protein details for ACTBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q562R1-ACTBL_HUMAN
    Recommended name:
    Beta-actin-like protein 2
    Protein Accession:
    Q562R1
    Secondary Accessions:
    • B2RPJ1
    • Q562R2
    • Q562S9
    • Q562X8

    Protein attributes for ACTBL2 Gene

    Size:
    376 amino acids
    Molecular mass:
    42003 Da
    Quaternary structure:
    • 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.
    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.

neXtProt entry for ACTBL2 Gene

Post-translational modifications for ACTBL2 Gene

  • Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTBL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTBL2 Gene

Domains & Families for ACTBL2 Gene

Gene Families for ACTBL2 Gene

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

Protein Domains for ACTBL2 Gene

Suggested Antigen Peptide Sequences for ACTBL2 Gene

GenScript: Design optimal peptide antigens:
  • Kappa-actin (ACTBL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q562R1

UniProtKB/Swiss-Prot:

ACTBL_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTBL2: view

Function for ACTBL2 Gene

Molecular function for ACTBL2 Gene

UniProtKB/Swiss-Prot Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Phenotypes From GWAS Catalog for ACTBL2 Gene

Gene Ontology (GO) - Molecular Function for ACTBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 27173435
GO:0005524 ATP binding IEA --
GO:0019901 protein kinase binding IBA 21873635
genes like me logo Genes that share ontologies with ACTBL2: view

Phenotypes for ACTBL2 Gene

genes like me logo Genes that share phenotypes with ACTBL2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTBL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTBL2 Gene

Localization for ACTBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTBL2 Gene

Cytoplasm, cytoskeleton.

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 ACTBL2 gene
Compartment Confidence
extracellular 4
cytoskeleton 4
cytosol 3
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACTBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IBA 21873635
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with ACTBL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTBL2 Gene

Pathways & Interactions for ACTBL2 Gene

PathCards logo

SuperPathways for ACTBL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007409 axonogenesis IBA 21873635
GO:0008150 biological_process ND --
GO:0048488 synaptic vesicle endocytosis IBA --
GO:0048870 cell motility IBA 21873635
GO:0098974 postsynaptic actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ACTBL2: view

No data available for Pathways by source and SIGNOR curated interactions for ACTBL2 Gene

Drugs & Compounds for ACTBL2 Gene

No Compound Related Data Available

Transcripts for ACTBL2 Gene

mRNA/cDNA for ACTBL2 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 ACTBL2

Alternative Splicing Database (ASD) splice patterns (SP) for ACTBL2 Gene

No ASD Table

Relevant External Links for ACTBL2 Gene

GeneLoc Exon Structure for
ACTBL2

Expression for ACTBL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTBL2 Gene

mRNA differential expression in normal tissues according to GTEx for ACTBL2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x26.2), Skin - Sun Exposed (Lower leg) (x4.4), Minor Salivary Gland (x4.3), and Testis (x4.1).

Protein differential expression in normal tissues from HIPED for ACTBL2 Gene

This gene is overexpressed in Bone marrow stromal cell (16.9), Amniocyte (16.7), and Bone marrow mesenchymal stem cell (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTBL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTBL2

SOURCE GeneReport for Unigene cluster for ACTBL2 Gene:

Hs.482167
genes like me logo Genes that share expression patterns with ACTBL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTBL2 Gene

Orthologs for ACTBL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTBL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACTBL2 30 31
  • 99.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACTBL2 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTBL2 30 31
  • 90.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTBL2 30 31
  • 90.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actbl2 30
  • 89.45 (n)
Mouse
(Mus musculus)
Mammalia Actbl2 30 17 31
  • 89.45 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 52 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ACTBL2 31
  • 65 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Arp53D 31
  • 61 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for ACTBL2 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ACTBL2 Gene

ENSEMBL:
Gene Tree for ACTBL2 (if available)
TreeFam:
Gene Tree for ACTBL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTBL2: view image

Paralogs for ACTBL2 Gene

(32) SIMAP similar genes for ACTBL2 Gene using alignment to 1 proteins:

  • ACTBL_HUMAN

Pseudogenes.org Pseudogenes for ACTBL2 Gene

genes like me logo Genes that share paralogs with ACTBL2: view

Variants for ACTBL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTBL2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
730552 Benign: not provided 57,482,654(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACTBL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTBL2 Gene

Variant ID Type Subtype PubMed ID
esv3575843 CNV gain 25503493
esv3605137 CNV loss 21293372

Variation tolerance for ACTBL2 Gene

Residual Variation Intolerance Score: 89.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTBL2 Gene

Human Gene Mutation Database (HGMD)
ACTBL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTBL2 Gene

Disorders for ACTBL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACTBL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
giant axonal neuropathy
  • gan1
cataract 48
  • ctrct48
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACTBL2

genes like me logo Genes that share disorders with ACTBL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTBL2 Gene

Publications for ACTBL2 Gene

  1. TonEBP/NFAT5 regulates ACTBL2 expression in biomechanically activated vascular smooth muscle cells. (PMID: 25520667) Hödebeck M … Korff T (Frontiers in physiology 2014) 2 3
  2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 41
  3. Identification of a novel actin isoform in hepatocellular carcinoma. (PMID: 16824795) Chang KW … Yeh CT (Hepatology research : the official journal of the Japan Society of Hepatology 2006) 3 4
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3

Products for ACTBL2 Gene

Sources for ACTBL2 Gene