The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its ... See more...

Aliases for ACTRT2 Gene

Aliases for ACTRT2 Gene

  • Actin Related Protein T2 2 3 5
  • ARPM2 2 3 4
  • Actin-Related Protein T2 3 4
  • Actin-Related Protein M2 3 4
  • Arp-T2 2 3
  • Actin-Related Protein HArpM2 3
  • FLJ25424 2
  • HARPM2 3
  • ACTRT2 5
  • ARP-T2 4
  • ARPT2 3

External Ids for ACTRT2 Gene

Previous GeneCards Identifiers for ACTRT2 Gene

  • GC01P002962
  • GC01P002233

Summaries for ACTRT2 Gene

Entrez Gene Summary for ACTRT2 Gene

  • The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTRT2 Gene

ACTRT2 (Actin Related Protein T2) is a Protein Coding gene. Diseases associated with ACTRT2 include Chromosome 1P36 Deletion Syndrome and Deafness, Autosomal Dominant 1. An important paralog of this gene is ACTRT1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTRT2 Gene

Genomics for ACTRT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTRT2 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
GH01J003021 Enhancer 0.3 CraniofacialAtlas 600.7 -0.1 -130 0.2 ZIC2 GLIS1 ACTRT2 ENSG00000284745 TTC34
GH01J003065 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +49.0 49036 9.4 HNRNPL GATAD2A CTCF ZNF692 PRDM1 ZIC2 ZSCAN4 RBFOX2 POLR2A PATZ1 PRDM16 LOC100420339 PRDM16-DT ACTRT2 ARHGEF16
GH01J002640 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas 14.7 -378.9 -378850 2.5 SP1 HNRNPL PRDM10 RFX1 ZNF692 JUND LARP7 ZIC2 RBFOX2 RXRB MMEL1 ACTRT2 PRXL2B MORN1 PANK4 lnc-TTC34-5 AB372589-001 TTC34
GH01J003420 Enhancer 1.2 VISTA ENCODE CraniofacialAtlas 12.1 +401.4 401434 4.9 HNRNPL GATAD2A CTCF TFE3 RCOR2 ZNF143 ZIC2 ZNF776 RBFOX2 RXRB TP73-AS1 ACTRT2 WRAP73 DFFB ENSG00000272153 lnc-MEGF6-2 lnc-MEGF6-3 ARHGEF16 PRDM16
GH01J003284 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +263.3 263334 2.8 CTCF PATZ1 REST ZNF341 RAD21 BCL11A MBD1 GABPB1 BCL11B ZNF2 ACTRT2 AB372781-001 ENSG00000272235 ARHGEF16 PRDM16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTRT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTRT2

Top Transcription factor binding sites by QIAGEN in the ACTRT2 gene promoter:
  • AP-2gamma
  • IRF-1
  • Nkx2-2
  • Olf-1
  • p300
  • PPAR-alpha
  • Roaz
  • Sox5
  • Sox9
  • SRY

Genomic Locations for ACTRT2 Gene

Genomic Locations for ACTRT2 Gene
chr1:3,021,467-3,022,903
(GRCh38/hg38)
Size:
1,437 bases
Orientation:
Plus strand
chr1:2,938,046-2,939,467
(GRCh37/hg19)
Size:
1,422 bases
Orientation:
Plus strand

Genomic View for ACTRT2 Gene

Genes around ACTRT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTRT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTRT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTRT2 Gene

Proteins for ACTRT2 Gene

  • Protein details for ACTRT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDY3-ACTT2_HUMAN
    Recommended name:
    Actin-related protein T2
    Protein Accession:
    Q8TDY3
    Secondary Accessions:
    • B1AN52
    • Q8NHS6
    • Q8TDG1

    Protein attributes for ACTRT2 Gene

    Size:
    377 amino acids
    Molecular mass:
    41702 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ACTRT2 Gene

Post-translational modifications for ACTRT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTRT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTRT2 Gene

Domains & Families for ACTRT2 Gene

Gene Families for ACTRT2 Gene

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

Protein Domains for ACTRT2 Gene

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

Suggested Antigen Peptide Sequences for ACTRT2 Gene

GenScript: Design optimal peptide antigens:
  • Actin-related protein M2 (ACTT2_HUMAN)
  • cDNA FLJ25424 fis, clone TST04169 (Q96LK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDY3

UniProtKB/Swiss-Prot:

ACTT2_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTRT2: view

Function for ACTRT2 Gene

Phenotypes From GWAS Catalog for ACTRT2 Gene

genes like me logo Genes that share phenotypes with ACTRT2: view

Animal Model Products

CRISPR Products

miRNA for ACTRT2 Gene

miRTarBase miRNAs that target ACTRT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTRT2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTRT2 Gene

Localization for ACTRT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTRT2 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 ACTRT2 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
plasma membrane 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for ACTRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ACTRT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTRT2 Gene

Pathways & Interactions for ACTRT2 Gene

PathCards logo

SuperPathways for ACTRT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTRT2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ACTRT2 Gene

Drugs & Compounds for ACTRT2 Gene

No Compound Related Data Available

Transcripts for ACTRT2 Gene

mRNA/cDNA for ACTRT2 Gene

1 REFSEQ mRNAs :
8 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 ACTRT2

Alternative Splicing Database (ASD) splice patterns (SP) for ACTRT2 Gene

No ASD Table

Relevant External Links for ACTRT2 Gene

GeneLoc Exon Structure for
ACTRT2

Expression for ACTRT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTRT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTRT2 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for ACTRT2 Gene

This gene is overexpressed in Ovary (39.4) and Testis (29.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTRT2 Gene



Protein tissue co-expression partners for ACTRT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTRT2

SOURCE GeneReport for Unigene cluster for ACTRT2 Gene:

Hs.236635
genes like me logo Genes that share expression patterns with ACTRT2: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTRT2 Gene

Orthologs for ACTRT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTRT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACTRT2 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTRT2 30 31
  • 84.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTRT2 30 31
  • 83.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Actrt2 30 17 31
  • 79.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actrt2 30
  • 78.87 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ACTRT2 30
  • 62.78 (n)
-- 31
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia actb 30
  • 54.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Arp53D 31
  • 44 (a)
OneToMany
Species where no ortholog for ACTRT2 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)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ACTRT2 Gene

ENSEMBL:
Gene Tree for ACTRT2 (if available)
TreeFam:
Gene Tree for ACTRT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTRT2: view image

Paralogs for ACTRT2 Gene

(27) SIMAP similar genes for ACTRT2 Gene using alignment to 1 proteins:

  • ACTT2_HUMAN
genes like me logo Genes that share paralogs with ACTRT2: view

Variants for ACTRT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTRT2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs3795263 - p.Gly247Arg

Additional dbSNP identifiers (rs#s) for ACTRT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTRT2 Gene

Variant ID Type Subtype PubMed ID
dgv11n100 CNV gain 25217958
esv3583359 CNV gain 25503493
esv3585036 CNV gain 21293372
esv3585037 CNV gain 21293372
nsv1013792 CNV gain 25217958
nsv428399 CNV gain 18775914
nsv470686 CNV loss 18288195
nsv545098 CNV loss 21841781
nsv829759 CNV loss 17160897
nsv951958 CNV deletion 24416366

Variation tolerance for ACTRT2 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.62; 89.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTRT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTRT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTRT2 Gene

Disorders for ACTRT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACTRT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
deafness, autosomal dominant 1
  • dfna1
osteogenesis imperfecta, type i
  • oi1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ACTRT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTRT2 Gene

Publications for ACTRT2 Gene

  1. Novel actin-related proteins Arp-T1 and Arp-T2 as components of the cytoskeletal calyx of the mammalian sperm head. (PMID: 12243744) Heid H … Franke W (Experimental cell research 2002) 2 3 4 23
  2. Identification of two cDNAs for human actin-related proteins (Arps) that have remarkable similarity to conventional actin. (PMID: 11750065) Harata M … Hatta S (Biochimica et biophysica acta 2001) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3

Products for ACTRT2 Gene

Sources for ACTRT2 Gene