Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACTG1 Gene

Aliases for ACTG1 Gene

  • Actin Gamma 1 2 3 5
  • ACTG 3 4
  • Deafness, Autosomal Dominant 20 2
  • Deafness, Autosomal Dominant 26 2
  • Epididymis Luminal Protein 176 3
  • Cytoskeletal Gamma-Actin 3
  • Actin, Cytoplasmic 2 3
  • Gamma-Actin 4
  • HEL-176 3
  • DFNA20 3
  • DFNA26 3
  • ACT 3

External Ids for ACTG1 Gene

Previous HGNC Symbols for ACTG1 Gene

  • ACTG
  • DFNA20
  • DFNA26

Previous GeneCards Identifiers for ACTG1 Gene

  • GC17U990001
  • GC17P080051
  • GC17M080178
  • GC17M080179
  • GC17M077091
  • GC17M079476
  • GC17M074925

Summaries for ACTG1 Gene

Entrez Gene Summary for ACTG1 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneCards Summary for ACTG1 Gene

ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Deafness, Autosomal Dominant 20 and Baraitser-Winter Syndrome 2. Among its related pathways are Development Slit-Robo signaling and PAK Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.

UniProtKB/Swiss-Prot for ACTG1 Gene

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

Tocris Summary for ACTG1 Gene

  • Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.

Gene Wiki entry for ACTG1 Gene

Additional gene information for ACTG1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTG1 Gene

Genomics for ACTG1 Gene

GeneHancer (GH) Regulatory Elements for ACTG1 Gene

Promoters and enhancers for ACTG1 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
GH17I081508 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 573.7 +9.4 9406 11.7 FEZF1 DMAP1 IRF4 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 ZNF610 ACTG1 FSCN2 ENSG00000229848 HGS ALYREF HEXDC FAAP100 ENSG00000265678 TEPSIN ENSG00000260563
GH17I081523 Enhancer 0.6 ENCODE 550.8 +0.3 264 0.9 BCOR CTCF RFX1 SAP130 ARID4B REST ZNF623 RAD21 TEAD3 ZNF148 ACTG1 ENSG00000229848 FSCN2
GH17I081033 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +484.1 484078 13.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A SLC30A9 BAIAP2 EIF4A3 HGS ACTG1 TEPSIN ARHGDIA ALYREF SGSH AATK CHMP6
GH17I082291 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -774.8 -774786 14.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 CSNK1D HGS ENSG00000260563 NARF-IT1 ALYREF FAAP100 TEX19 ENSG00000262652 ARL2BPP9 DUS1L
GH17I080544 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.9 +978.5 978484 2.3 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B RPTOR ENSG00000262877 EIF4A3 ACTG1 TEPSIN LOC100130370 SGSH NPTX1 RPL32P31 LOC105371922
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTG1 gene promoter:

Genomic Locations for ACTG1 Gene

Genomic Locations for ACTG1 Gene
chr17:81,509,971-81,523,847
(GRCh38/hg38)
Size:
13,877 bases
Orientation:
Minus strand
chr17:79,476,997-79,490,873
(GRCh37/hg19)

Genomic View for ACTG1 Gene

Genes around ACTG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTG1 Gene

Proteins for ACTG1 Gene

  • Protein details for ACTG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63261-ACTG_HUMAN
    Recommended name:
    Actin, cytoplasmic 2
    Protein Accession:
    P63261
    Secondary Accessions:
    • A8K7C2
    • P02571
    • P14104
    • P99022
    • Q5U032
    • Q96E67

    Protein attributes for ACTG1 Gene

    Size:
    375 amino acids
    Molecular mass:
    41793 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. Interacts with TWF1, CAPZB, cofilin and profilin (PubMed:28493397).
    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.

    Three dimensional structures from OCA and Proteopedia for ACTG1 Gene

neXtProt entry for ACTG1 Gene

Post-translational modifications for ACTG1 Gene

  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • Monomethylation at Lys-84 (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.
  • Oxidation of Met-44 and Met-47 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).
  • The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the mouse ortholog.
  • Ubiquitination at Lys18
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACTG1 Gene

Domains & Families for ACTG1 Gene

Gene Families for ACTG1 Gene

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

Protein Domains for ACTG1 Gene

Suggested Antigen Peptide Sequences for ACTG1 Gene

Graphical View of Domain Structure for InterPro Entry

P63261

UniProtKB/Swiss-Prot:

ACTG_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTG1: view

Function for ACTG1 Gene

Molecular function for ACTG1 Gene

GENATLAS Biochemistry:
actin,gamma,cytoplasmic 1 major constituent of microfilaments
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 ACTG1 Gene

Gene Ontology (GO) - Molecular Function for ACTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IC 16130169
GO:0005515 protein binding IPI 16189514
GO:0005522 profilin binding IDA 28493397
GO:0005524 ATP binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 21753002
genes like me logo Genes that share ontologies with ACTG1: view
genes like me logo Genes that share phenotypes with ACTG1: view

Human Phenotype Ontology for ACTG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTG1 Gene

MGI Knock Outs for ACTG1:

Animal Model Products

miRNA for ACTG1 Gene

miRTarBase miRNAs that target ACTG1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTG1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTG1 Gene

Localization for ACTG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTG1 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 ACTG1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA,IDA 16502470
GO:0005634 nucleus IDA,HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS,ISS 16130169
genes like me logo Genes that share ontologies with ACTG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTG1 Gene

Pathways & Interactions for ACTG1 Gene

genes like me logo Genes that share pathways with ACTG1: view

SIGNOR curated interactions for ACTG1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ACTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP,HEP 23580065
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0034329 cell junction assembly TAS --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
GO:0045214 sarcomere organization IEA --
genes like me logo Genes that share ontologies with ACTG1: view

Drugs & Compounds for ACTG1 Gene

(14) Drugs for ACTG1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Vincristine Approved, Investigational Pharma Microtubule disrupter,antitumor agent 965
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0
Thymosin beta-4 Investigational Pharma 0
Cytochalasin D Pharma inhibitor of actin polymerization, selective 0

(6) Additional Compounds for ACTG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for ACTG1 Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6

(8) ApexBio Compounds for ACTG1 Gene

Compound Action Cas Number
CK 666 442633-00-3
CK 869 388592-44-7
Cytochalasin D inhibitor of actin polymerization, selective 22144-77-0
Jasplakinolide 102396-24-7
Latrunculin A 76343-93-6
Phalloidin 17466-45-4
SMIFH2 340316-62-3
Wiskostatin 253449-04-6
genes like me logo Genes that share compounds with ACTG1: view

Drug Products

Transcripts for ACTG1 Gene

Unigene Clusters for ACTG1 Gene

Actin, gamma 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTG1

Alternative Splicing Database (ASD) splice patterns (SP) for ACTG1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - - - -
SP6: -
SP7: - - -
SP8: -
SP9: -

Relevant External Links for ACTG1 Gene

GeneLoc Exon Structure for
ACTG1
ECgene alternative splicing isoforms for
ACTG1

Expression for ACTG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACTG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACTG1 Gene

This gene is overexpressed in Bone marrow stromal cell (6.7) and Skin (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACTG1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACTG1 Gene:

ACTG1

SOURCE GeneReport for Unigene cluster for ACTG1 Gene:

Hs.514581

Evidence on tissue expression from TISSUES for ACTG1 Gene

  • Blood(5)
  • Eye(5)
  • Lung(5)
  • Muscle(5)
  • Skin(5)
  • Nervous system(5)
  • Intestine(4.9)
  • Kidney(4.9)
  • Liver(4.9)
  • Pancreas(4.9)
  • Bone(4.7)
  • Stomach(4.7)
  • Heart(3.6)
  • Spleen(3)
  • Lymph node(2.9)
  • Thyroid gland(2.9)
  • Gall bladder(2.8)
  • Adrenal gland(2.6)
  • Bone marrow(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • aorta
  • heart
  • heart valve
Abdomen:
  • kidney
Pelvis:
  • penis
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with ACTG1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ACTG1 Gene

Orthologs for ACTG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTG1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia ACTG1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTB 34
  • 99 (a)
ManyToMany
ACTG1 34
  • 96 (a)
ManyToMany
-- 34
  • 83 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ACTG1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTG1 33 34
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Actg1 33
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Actg1 33 16 34
  • 89.87 (n)
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ACTG1 33 34
  • 85.92 (n)
lizard
(Anolis carolinensis)
Reptilia ACTG1 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actg1 33
  • 82.84 (n)
zebrafish
(Danio rerio)
Actinopterygii actb2 33 34
  • 87.56 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5867 33
fruit fly
(Drosophila melanogaster)
Insecta Act42A 35
  • 97 (a)
Act87E 35 34
  • 95 (a)
Act88F 35
  • 95 (a)
Act57B 35
  • 94 (a)
Act79B 35
  • 94 (a)
Act5C 35 33
  • 85.83 (n)
Arp53D 35
  • 64 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta ACT5C_ANOGA 33
  • 86.19 (n)
worm
(Caenorhabditis elegans)
Secernentea act-2 35
  • 97 (a)
act-1 35
  • 96 (a)
act-3 35 34
  • 96 (a)
act-5 35 34
  • 93 (a)
act-4 33
  • 82.71 (n)
F42C5.9 35
  • 28 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR222W 33
  • 76.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05357g 33
  • 73.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACT1 33 34
  • 73.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT2 33
  • 74.26 (n)
rice
(Oryza sativa)
Liliopsida Os03g0718100 33
  • 79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11314 34
  • 95 (a)
ManyToMany
CSA.11006 34
  • 94 (a)
ManyToMany
-- 34
  • 93 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04173 33
  • 80.89 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes act1 33
  • 74.76 (n)
Species where no ortholog for ACTG1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • corn (Zea mays)
  • 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 ACTG1 Gene

ENSEMBL:
Gene Tree for ACTG1 (if available)
TreeFam:
Gene Tree for ACTG1 (if available)

Paralogs for ACTG1 Gene

genes like me logo Genes that share paralogs with ACTG1: view

Variants for ACTG1 Gene

Sequence variations from dbSNP and Humsavar for ACTG1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs104894544 pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] 81,511,913(-) T/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894545 pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] 81,510,824(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894546 pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] 81,511,199(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894547 pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] 81,510,709(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057518673 likely-pathogenic, Baraitser-Winter Syndrome 2 81,512,237(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ACTG1 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV gain+loss 19812545
nsv428351 CNV gain 18775914
nsv457973 CNV loss 19166990
nsv576176 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv833567 CNV loss 17160897
nsv833568 CNV loss 17160897
nsv952389 CNV deletion 24416366
nsv978468 CNV duplication 23825009

Variation tolerance for ACTG1 Gene

Residual Variation Intolerance Score: 2.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTG1 Gene

Human Gene Mutation Database (HGMD)
ACTG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTG1 Gene

Disorders for ACTG1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ACTG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 20
  • dfna20
baraitser-winter syndrome 2
  • brws2
coloboma, ocular, autosomal dominant
  • coloboma, uveoretinal
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards
Search ACTG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTG_HUMAN
  • Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269 PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:13680526, ECO:0000269 PubMed:14684684, ECO:0000269 PubMed:16773128, ECO:0000269 PubMed:18804074, ECO:0000269 PubMed:19477959, ECO:0000269 PubMed:22938506, ECO:0000269 PubMed:25388789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in ACTG1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.

Additional Disease Information for ACTG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACTG1: view

No data available for Genatlas for ACTG1 Gene

Publications for ACTG1 Gene

  1. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). (PMID: 14684684) van Wijk E … Kremer H (Journal of medical genetics 2003) 2 3 4 22 58
  2. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). (PMID: 13680526) Zhu M … Friderici KH (American journal of human genetics 2003) 3 4 22 44 58
  3. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. (PMID: 18804074) Liu P … Liu M (Journal of genetics and genomics = Yi chuan xue bao 2008) 3 4 22 58
  4. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. (PMID: 28493397) Rainger J … FitzPatrick DR (Human mutation 2017) 3 4 58
  5. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. (PMID: 22366783) Rivière JB … Dobyns WB (Nature genetics 2012) 3 4 58

Products for ACTG1 Gene

  • Addgene plasmids for ACTG1

Sources for ACTG1 Gene