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-Like Protein 3
  • Actin, Beta-Like 2 2
  • 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. An important paralog of this gene is ACTG1.

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 for ACTBL2 Gene

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 500.7 +0.1 135 1.5 ZSCAN5C ZNF639 POLR2A EP300 ATF2 ZNF184 NR3C1 CEBPB JUN KLF8 ACTBL2 LOC102724122 SALL4P1 lnc-GPBP1-5 ENSG00000250961
GH05J057433 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12 +44.2 44183 10.3 TCF12 JUND FOS ZNF639 ZIC2 REST TRIM28 CUX1 KLF7 USF2 MIER3 ACTBL2 ENSG00000250961 GPBP1 lnc-GPBP1-5 SALL4P1
GH05J057315 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.8 +165.6 165627 3.6 JUND FOS ZNF623 NR2F2 ZBTB11 ZNF426 EZH2 ZFHX2 ZNF213 MAFK piR-34179 piR-38776-002 RPL26P19 MIER3 ENSG00000271828 GPBP1 ACTBL2 LOC100288510 HSALNG0041999
GH05J057331 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.7 +148.2 148193 5.6 TCF12 FOS FOXA1 TEAD1 CTBP1 OSR2 FOXA2 NFIC POLR2A FOSL2 ACTBL2 RF00017-4636 LOC100288510
GH05J057450 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.9 +31.0 30989 2.8 EP300 MXI1 FEZF1 SP1 POLR2A ZXDB CEBPB ACTBL2 ENSG00000250961 lnc-GPBP1-5 SALL4P1
- 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 UCSC Golden Path with GeneCards custom track

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
chr5:57,480,016-57,482,811
(GRCh38/hg38)
Size:
2,796 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:0003674 molecular_function ND --
GO:0005515 protein binding IPI 27173435
GO:0005524 ATP binding IEA --
GO:0098973 structural constituent of postsynaptic actin cytoskeleton 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

Clone Products

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
cytoskeleton 4
cytosol 3
extracellular 1
mitochondrion 1
nucleus 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:0045202 synapse IEA --
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:0008150 biological_process ND --
GO:0048488 synaptic vesicle endocytosis 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

Clone Products

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 31 30
  • 99.29 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTBL2 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTBL2 31 30
  • 90.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACTBL2 31 30
  • 90.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Actbl2 17 31 30
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Actbl2 30
  • 89.45 (n)
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 (Ashbya 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 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

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

Disorders for ACTBL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACTBL2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
giant axonal neuropathy
  • gan1
- 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 54
  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 54
  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 54
  4. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54
  5. Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. (PMID: 29961565) Wilkinson B … Coba MP (Biological psychiatry 2019) 3 54

Products for ACTBL2 Gene

Sources for ACTBL2 Gene