ACTG1

Summary

ACTG1 (actin gamma 1, HGNC:144) is a protein-coding gene on chromosome 17q25.3, encoding Actin, cytoplasmic 2 (P63261). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. It is a selective cancer dependency (DepMap: 83.3% of cell lines).

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.

Source: NCBI Gene 71 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Baraitser-winter syndrome 2 (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 7
• Clinical variants (ClinVar): 710 total — 16 pathogenic, 33 likely-pathogenic
• Phenotypes (HPO): 76
• Cancer dependency (DepMap): dependent in 83.3% of screened cell lines
• MANE Select transcript: NM_001614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:144
Approved symbol	ACTG1
Name	actin gamma 1
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184009
Ensembl biotype	protein_coding
OMIM	102560
Entrez	71

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 31 protein_coding, 7 nonsense_mediated_decay, 6 retained_intron

ENST00000570382, ENST00000571691, ENST00000571721, ENST00000572105, ENST00000573283, ENST00000574671, ENST00000575087, ENST00000575659, ENST00000575842, ENST00000575994, ENST00000576209, ENST00000576214, ENST00000576544, ENST00000576917, ENST00000615544, ENST00000644774, ENST00000679410, ENST00000679480, ENST00000679535, ENST00000679778, ENST00000680227, ENST00000680727, ENST00000681052, ENST00000681092, ENST00000681842, ENST00000863045, ENST00000863046, ENST00000915961, ENST00000915962, ENST00000915963, ENST00000915964, ENST00000915965, ENST00000915966, ENST00000915967, ENST00000915968, ENST00000915969, ENST00000915970, ENST00000915971, ENST00000915972, ENST00000915973, ENST00000915974, ENST00000915975, ENST00000915976, ENST00000954444

RefSeq mRNA: 2 — MANE Select: NM_001614 NM_001199954, NM_001614

CCDS: CCDS11782

Canonical transcript exons

ENST00000573283 — 6 exons

Exon	Start	End
ENSE00002660192	81509971	81510833
ENSE00002665639	81512734	81512799
ENSE00003550950	81511188	81511626
ENSE00003591451	81511903	81512142
ENSE00003635001	81512232	81512360
ENSE00003653583	81510927	81511108

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4927.9052 / max 26726.1625, expressed in 1828 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168753	4832.8779	1828
168747	41.8485	1793
168746	9.9495	1704
168740	8.0135	1615
168734	6.9481	1552
168735	6.3556	1517
168745	5.5632	1580
168741	3.6143	1327
168736	2.7801	1247
168737	2.4367	1086

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	99.98	gold quality
ventricular zone	UBERON:0003053	99.98	gold quality
amniotic fluid	UBERON:0000173	99.96	gold quality
embryo	UBERON:0000922	99.96	gold quality
ganglionic eminence	UBERON:0004023	99.96	gold quality
cortical plate	UBERON:0005343	99.96	gold quality
dorsal root ganglion	UBERON:0000044	99.95	gold quality
pleura	UBERON:0000977	99.95	gold quality
epithelium of nasopharynx	UBERON:0001951	99.95	gold quality
parietal pleura	UBERON:0002400	99.95	gold quality
visceral pleura	UBERON:0002401	99.95	gold quality
mucosa of urinary bladder	UBERON:0001259	99.94	gold quality
pericardium	UBERON:0002407	99.94	gold quality
lower lobe of lung	UBERON:0008949	99.94	gold quality
epithelial cell of pancreas	CL:0000083	99.93	gold quality
stromal cell of endometrium	CL:0002255	99.93	gold quality
cardia of stomach	UBERON:0001162	99.93	gold quality
pylorus	UBERON:0001166	99.93	gold quality
germinal epithelium of ovary	UBERON:0001304	99.93	gold quality
trigeminal ganglion	UBERON:0001675	99.93	gold quality
thymus	UBERON:0002370	99.93	gold quality
adult organism	UBERON:0007023	99.93	gold quality
type B pancreatic cell	CL:0000169	99.92	gold quality
mammary duct	UBERON:0001765	99.92	gold quality
epithelium of mammary gland	UBERON:0003244	99.92	gold quality
vena cava	UBERON:0004087	99.92	gold quality
nasal cavity epithelium	UBERON:0005384	99.92	gold quality
layer of synovial tissue	UBERON:0007616	99.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.91	gold quality
colonic mucosa	UBERON:0000317	99.91	gold quality

Single-cell (SCXA)

Detected in 43 experiment(s), a significant marker in 19.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	13973.79
E-MTAB-10042	yes	7259.49
E-CURD-77	yes	6772.60
E-CURD-122	yes	6605.15
E-MTAB-9221	yes	5469.24
E-CURD-46	yes	4384.63
E-CURD-98	yes	3864.90
E-MTAB-9467	yes	3429.30
E-CURD-119	yes	1317.83
E-GEOD-131882	yes	1285.13
E-HCAD-4	yes	68.51
E-GEOD-137537	yes	45.44
E-CURD-88	yes	32.60
E-MTAB-7316	yes	27.31
E-GEOD-135922	yes	25.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4, JUN, MYC, SRF

miRNA regulators (miRDB)

32 targeting ACTG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-7158-3P	98.46	66.45	728
HSA-MIR-624-3P	98.37	67.06	1067
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-144-5P	97.66	69.90	531
HSA-MIR-1202	97.19	66.43	827
HSA-MIR-3972	97.19	66.46	808
HSA-MIR-3194-5P	96.80	64.90	1027

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 83.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes. (PMID:12612070)
• the first description of a mutation in cytoskeletal, or nonmuscle, actin; with an autosomal dominant, progressive, sensorineural hearing loss phenotype (PMID:13680526)
• A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss. (PMID:14684684)
• Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions. (PMID:16365169)
• Espins do not activate the Arp2/3 complex in vitro, and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells. (PMID:16569662)
• A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. (PMID:16690605)
• the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark. (PMID:16773128)
• actin and vimentin filaments can interact directly through the tail domain of vimentin (PMID:16901892)
• During cell membrane blebbing actin recruitment is involved in cortex assembly. (PMID:17088428)
• In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA. (PMID:17285762)
• IQGAP1 regulates Salmonella invasion through interactions with actin, Rac1, and Cdc42 (PMID:17693642)
• In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding, stabilization and cross-linking of actin filaments, and focal adhesion targeting. (PMID:17722883)
• analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP (PMID:17914456)
• In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. (PMID:18804074)
• Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3. (PMID:19008859)
• This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19110265)
• Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment. (PMID:19477959)
• audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus. (PMID:19548389)
• These results reveal new aspects of beta- and gamma-actin organization that support their functional diversity. (PMID:19638415)
• This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia (PMID:20381070)
• actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling (PMID:21378166)
• Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension. (PMID:21502360)
• knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell’s ability to explore, which was, in part, due to a loss of cell polarity (PMID:21908715)
• identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes (PMID:22366783)
• These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1. (PMID:22623803)
• Data indicate beta-cytoplasmic (beta-CYA) and gamma-cytoplasmic (gamma-CYA) actins differential localization and dynamics at epithelial junctions. (PMID:22855531)
• the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. (PMID:23506231)
• Mutations in ACTB cause a distinctly more severe phenotype than ACTG1 mutations in Baraitser-Winter syndrome. (PMID:23756437)
• The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility (PMID:24284654)
• The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications. (PMID:24762104)
• In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations for ACTG1 gene associated autosomal dominant sensorineural hearing loss (PMID:25792668)
• Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described. (PMID:26188271)
• Data indicate that F-actin is significantly elevated in septic shock, and F-actin and the F:G-actin ratio are potential biomarkers for the diagnosis of septic shock. (PMID:26754286)
• a novel mutation in ACTG1 was found to be co-segregated with hearing loss and the genetic cause of autosomal dominant nonsyndromic hearing impairment in a Chinese family (PMID:26832775)
• We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members. (PMID:27096712)
• we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. (PMID:27240540)
• Baraitser-Winter cerebrofrontofacial syndrome is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling. (PMID:27625340)
• Data reports a recurrent de novo mutation in ACTG1 causes isolated ocular coloboma (PMID:28493397)
• Results identified ACTG1 with significant high expression in skin cancer tissue and suggested that ACTG1 can regulate the cell proliferation and migration through ROCK signaling pathway. (PMID:28727228)
• A novel actin gamma 1 (ACTG1) de novo mutation is identified in two sporadic, juvenile, Chinese non-syndromic hearing loss (NSHL) cases using targeted high-throughput sequencing. (PMID:29357087)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	actb1	ENSDARG00000037746
danio_rerio	actb2	ENSDARG00000037870
mus_musculus	Actg1	ENSMUSG00000062825
rattus_norvegicus	Actg1l1	ENSRNOG00000053452

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)

Protein

Protein identifiers

Actin, cytoplasmic 2 — P63261 (reviewed: P63261)

Alternative names: Gamma-actin

All UniProt accessions (9): A0A7P0TBL1, A0A804GS07, P63261, I3L1U9, I3L3I0, I3L3R2, I3L4N8, J3KT65, K7EM38

UniProt curated annotations — full annotation on UniProt →

Function. Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage.

Subunit / interactions. 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.

Subcellular location. Cytoplasm. Cytoskeleton.

Post-translational modifications. 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. 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. N-terminal cleavage of acetylated methionine of immature cytoplasmic actin by ACTMAP. N-terminal acetylation by NAA80 affects actin filament depolymerization and elongation, including elongation driven by formins. In contrast, filament nucleation by the Arp2/3 complex is not affected. Methylated at His-73 by SETD3. (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. 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.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry. 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. The disease is caused by variants affecting the gene represented in this entry. 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.

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.

Similarity. Belongs to the actin family.

RefSeq proteins (2): NP_001186883, NP_001605* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR004001	Actin_CS	Conserved_site
IPR020902	Actin/actin-like_CS	Conserved_site
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (72 total): helix 20, sequence variant 19, strand 17, modified residue 6, turn 4, chain 2, cross-link 2, initiator methionine 1, sequence conflict 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
6WK2	X-RAY DIFFRACTION	1.76
6WK1	X-RAY DIFFRACTION	1.89
6V63	X-RAY DIFFRACTION	2.02
6V62	X-RAY DIFFRACTION	2.36
7NVM	ELECTRON MICROSCOPY	3.1
8DNF	ELECTRON MICROSCOPY	3.38
5JLH	ELECTRON MICROSCOPY	3.9
6G2T	ELECTRON MICROSCOPY	9
6CXI	ELECTRON MICROSCOPY	11
6CXJ	ELECTRON MICROSCOPY	11

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P63261-F1	95.44	0.93

Antibody-complex structures (SAbDab): 1 — 7NVM

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (8): 270, 1, 2, 44, 47, 73, 84, 50

Function

Pathways and Gene Ontology

Reactome pathways

69 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-190873	Gap junction degradation
R-HSA-196025	Formation of annular gap junctions
R-HSA-2029482	Regulation of actin dynamics for phagocytic cup formation
R-HSA-3928662	EPHB-mediated forward signaling
R-HSA-3928665	EPH-ephrin mediated repulsion of cells
R-HSA-418990	Adherens junctions interactions
R-HSA-437239	Recycling pathway of L1
R-HSA-4420097	VEGFA-VEGFR2 Pathway
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-446353	Cell-extracellular matrix interactions
R-HSA-5626467	RHO GTPases activate IQGAPs
R-HSA-5663213	RHO GTPases Activate WASPs and WAVEs
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-5674135	MAP2K and MAPK activation
R-HSA-6802946	Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948	Signaling by high-kinase activity BRAF mutants
R-HSA-6802952	Signaling by BRAF and RAF1 fusions
R-HSA-6802955	Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-9013418	RHOBTB2 GTPase cycle
R-HSA-9649948	Signaling downstream of RAS mutants
R-HSA-9656223	Signaling by RAF1 mutants
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea
R-HSA-9664422	FCGR3A-mediated phagocytosis
R-HSA-9764561	Regulation of CDH1 Function
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9953170	GBP-mediated host defense
R-HSA-9958825	Activation of STAT3 by cadherin engagement

MSigDB gene sets: 670 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_WOUND_HEALING, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_PLATELET_ACTIVATION, GCM_NPM1, MORF_UBE2I, GOBP_FOCAL_ADHESION_ASSEMBLY, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, HSIAO_HOUSEKEEPING_GENES, GOBP_NEUROGENESIS

GO Biological Process (18): angiogenesis (GO:0001525), morphogenesis of a polarized epithelium (GO:0001738), axonogenesis (GO:0007409), positive regulation of gene expression (GO:0010628), positive regulation of cell migration (GO:0030335), maintenance of blood-brain barrier (GO:0035633), sarcomere organization (GO:0045214), cell motility (GO:0048870), regulation of stress fiber assembly (GO:0051492), regulation of focal adhesion assembly (GO:0051893), platelet aggregation (GO:0070527), cellular response to type II interferon (GO:0071346), positive regulation of wound healing (GO:0090303), tight junction assembly (GO:0120192), regulation of transepithelial transport (GO:0150111), regulation of synaptic vesicle endocytosis (GO:1900242), protein localization to bicellular tight junction (GO:1902396), postsynaptic actin cytoskeleton organization (GO:0098974)

GO Molecular Function (10): structural constituent of cytoskeleton (GO:0005200), profilin binding (GO:0005522), ATP binding (GO:0005524), hydrolase activity (GO:0016787), protein kinase binding (GO:0019901), ubiquitin protein ligase binding (GO:0031625), identical protein binding (GO:0042802), structural constituent of postsynaptic actin cytoskeleton (GO:0098973), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (25): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), actin filament (GO:0005884), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myofibril (GO:0030016), axon (GO:0030424), filamentous actin (GO:0031941), NuA4 histone acetyltransferase complex (GO:0035267), apical junction complex (GO:0043296), calyx of Held (GO:0044305), synapse (GO:0045202), phagocytic vesicle (GO:0045335), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), dense body (GO:0097433), Schaffer collateral - CA1 synapse (GO:0098685), basal body patch (GO:0120220), apical part of cell (GO:0045177)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Oncogenic MAPK signaling	4
RHO GTPase Effectors	3
Membrane Trafficking	2
EPH-Ephrin signaling	2
L1CAM interactions	2
Gap junction trafficking	1
Gap junction degradation	1
Fcgamma receptor (FCGR) dependent phagocytosis	1
Cell-cell junction organization	1
Signaling by VEGF	1
Cell junction organization	1
RAF/MAP kinase cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoskeleton	2
protein binding	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
morphogenesis of an epithelium	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
tissue homeostasis	1
myofibril assembly	1
actomyosin structure organization	1
cellular process	1
regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of actomyosin structure organization	1
regulation of cell-matrix adhesion	1
focal adhesion assembly	1
regulation of cell-substrate junction assembly	1
platelet activation	1
homotypic cell-cell adhesion	1
response to type II interferon	1
cellular response to cytokine stimulus	1
wound healing	1
regulation of wound healing	1
positive regulation of response to wounding	1
cell-cell junction assembly	1
tight junction organization	1
regulation of transport	1
transepithelial transport	1
regulation of endocytosis	1
synaptic vesicle endocytosis	1
regulation of synaptic vesicle recycling	1
protein localization to cell-cell junction	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

307 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
ACTG1	ACTB	psi-mi:“MI:0915”(physical association)	0.950
ACTB	ACTG1	psi-mi:“MI:0915”(physical association)	0.950
CAP2	ACTG1	psi-mi:“MI:0915”(physical association)	0.860
ACTG1	CAP2	psi-mi:“MI:0915”(physical association)	0.860
ACTG1	CFL2	psi-mi:“MI:0915”(physical association)	0.850
CFL1	ACTG1	psi-mi:“MI:0915”(physical association)	0.830
ACTG1	CFL1	psi-mi:“MI:0915”(physical association)	0.830

BioGRID (710): ACTG1 (Two-hybrid), ACTG1 (Two-hybrid), CFL1 (Two-hybrid), CFL2 (Two-hybrid), EHHADH (Two-hybrid), CAP2 (Two-hybrid), DSTN (Two-hybrid), CCDC22 (Two-hybrid), WDYHV1 (Two-hybrid), ACTG1 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS)

ESM2 similar proteins: A2BDB0, O18499, O18500, O18840, O42161, O93400, P04829, P10984, P10986, P15475, P41340, P48975, P53478, P53485, P53505, P53506, P60706, P60707, P60708, P60709, P60710, P60711, P60712, P60713, P63256, P63257, P63258, P63259, P63260, P63261, P68142, P68143, P83750, P83751, Q25010, Q4L0Y2, Q4R561, Q5JAK2, Q5R1X3, Q5R6G0

Diamond homologs: A0A1L8EV45, A2BDB0, A2X6S3, O16808, O17320, O18840, O73723, P02576, P02578, P04752, P04829, P07829, P0DM41, P0DM42, P10984, P10986, P10988, P10990, P12716, P13363, P17126, P17128, P22132, P26183, P27131, P30162, P30163, P32390, P32392, P35432, P41112, P41339, P42528, P43239, P45886, P47117, P53458, P53461, P53468, P53470

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ACTG1	“up-regulates quantity”	F-actin_assembly	binding
PTPN6	down-regulates	ACTG1	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells	6	27.1×	5e-05
Regulation of TNFR1 signaling	5	14.2×	2e-03
PKR-mediated signaling	7	12.5×	2e-04
Toll Like Receptor 3 (TLR3) Cascade	5	12.2×	3e-03
TRIF (TICAM1)-mediated TLR4 signaling	5	12.1×	3e-03
MyD88-independent TLR4 cascade	5	11.7×	3e-03
VEGFA-VEGFR2 Pathway	5	8.8×	7e-03
Toll Like Receptor 4 (TLR4) Cascade	5	8.3×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
platelet aggregation	7	24.6×	1e-05
canonical NF-kappaB signal transduction	6	22.9×	1e-04
tumor necrosis factor-mediated signaling pathway	5	17.2×	1e-03
negative regulation of translation	6	12.2×	1e-03
obsolete positive regulation of NF-kappaB transcription factor activity	5	10.7×	5e-03
actin filament organization	8	9.9×	2e-04
response to virus	6	9.0×	4e-03
positive regulation of canonical NF-kappaB signal transduction	10	7.6×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

710 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	33
Uncertain significance	178
Likely benign	320
Benign	59

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1065444	NM_001614.5(ACTG1):c.209C>T (p.Pro70Leu)	Pathogenic
1483014	NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)	Pathogenic
18317	NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)	Pathogenic
18318	NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)	Pathogenic
18320	NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)	Pathogenic
18321	NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)	Pathogenic
29585	NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)	Pathogenic
29588	NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys)	Pathogenic
29590	NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)	Pathogenic
3906505	NM_001614.5(ACTG1):c.1004G>T (p.Arg335Leu)	Pathogenic
4076592	NM_001614.5(ACTG1):c.77C>G (p.Ala26Gly)	Pathogenic
444419	NM_001614.5(ACTG1):c.767G>A (p.Arg256Gln)	Pathogenic
505063	NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln)	Pathogenic
561398	NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys)	Pathogenic
813525	NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys)	Pathogenic
871523	NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn)	Pathogenic
1012294	NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys)	Likely pathogenic
1174523	NM_001614.5(ACTG1):c.440G>A (p.Arg147His)	Likely pathogenic
1216911	NM_001614.5(ACTG1):c.761_781dup (p.Arg254_Ala260dup)	Likely pathogenic
128266	NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)	Likely pathogenic
1306975	NM_001614.5(ACTG1):c.77C>T (p.Ala26Val)	Likely pathogenic
1333817	NM_001614.5(ACTG1):c.459G>A (p.Met153Ile)	Likely pathogenic
1526065	NM_001614.5(ACTG1):c.848T>C (p.Met283Thr)	Likely pathogenic
1685234	NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)	Likely pathogenic
1687657	NM_001614.5(ACTG1):c.824A>T (p.His275Leu)	Likely pathogenic
1806648	NM_001614.5(ACTG1):c.424C>G (p.Leu142Val)	Likely pathogenic
18315	NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile)	Likely pathogenic
1994494	NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)	Likely pathogenic
2003119	NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)	Likely pathogenic
279955	NM_001614.5(ACTG1):c.131T>A (p.Met44Lys)	Likely pathogenic

SpliceAI

573 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81510830:TGAT:T	acceptor_gain	1.0000
17:81510833:TC:T	acceptor_loss	1.0000
17:81510834:C:CC	acceptor_gain	1.0000
17:81510922:CTCA:C	donor_loss	1.0000
17:81510924:CAC:C	donor_loss	1.0000
17:81510925:A:AC	donor_gain	1.0000
17:81510925:AC:A	donor_gain	1.0000
17:81510926:C:CT	donor_gain	1.0000
17:81510926:CC:C	donor_gain	1.0000
17:81510926:CCT:C	donor_gain	1.0000
17:81510926:CCTT:C	donor_gain	1.0000
17:81510926:CCTTG:C	donor_gain	1.0000
17:81511104:CATAC:C	acceptor_gain	1.0000
17:81511106:TAC:T	acceptor_gain	1.0000
17:81511106:TACCT:T	acceptor_loss	1.0000
17:81511107:ACCT:A	acceptor_loss	1.0000
17:81511108:CCTAG:C	acceptor_loss	1.0000
17:81511109:C:CC	acceptor_gain	1.0000
17:81511109:CTAGG:C	acceptor_loss	1.0000
17:81511110:T:A	acceptor_loss	1.0000
17:81511183:CCTA:C	donor_loss	1.0000
17:81511184:CTAC:C	donor_loss	1.0000
17:81511186:A:AC	donor_gain	1.0000
17:81511186:AC:A	donor_gain	1.0000
17:81511186:ACCC:A	donor_loss	1.0000
17:81511187:C:CC	donor_gain	1.0000
17:81511187:CC:C	donor_gain	1.0000
17:81511622:ATAAT:A	acceptor_gain	1.0000
17:81511623:TAAT:T	acceptor_gain	1.0000
17:81511625:AT:A	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000831815 (17:81509615 T>C), RS1002750518 (17:81509732 C>A,G,T), RS1003346431 (17:81512632 G>A,C), RS1003424093 (17:81513590 G>A,C,T), RS1004415347 (17:81509885 G>A,C,T), RS1004634765 (17:81509489 G>A,C), RS1006973361 (17:81513240 C>G,T), RS1007192227 (17:81512522 C>G,T), RS1007269858 (17:81513376 G>A), RS1007863927 (17:81514203 C>A,T), RS1009314625 (17:81512607 C>G,T), RS1011663324 (17:81513543 C>T), RS1011779186 (17:81513397 G>A,C,T), RS1013119311 (17:81513781 C>A,T), RS1013784921 (17:81509620 C>A)

Disease associations

OMIM: gene MIM:102560 | disease phenotypes: MIM:614583, MIM:604717, MIM:610805, MIM:607432, MIM:243310

GenCC curated gene-disease

Disease	Classification	Inheritance
Baraitser-winter syndrome 2	Definitive	Autosomal dominant
nonsyndromic genetic hearing loss	Definitive	Autosomal dominant
autosomal dominant nonsyndromic hearing loss 20	Strong	Autosomal dominant
Baraitser-Winter cerebrofrontofacial syndrome	Supportive	Autosomal dominant
autosomal dominant nonsyndromic hearing loss	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Baraitser-winter syndrome 2	Definitive	AD
nonsyndromic genetic hearing loss	Definitive	AD

Mondo (11): Baraitser-winter syndrome 2 (MONDO:0013812), autosomal dominant nonsyndromic hearing loss 20 (MONDO:0011480), hearing loss disorder (MONDO:0005365), nonsyndromic genetic hearing loss (MONDO:0019497), congenital anomaly of kidney and urinary tract (MONDO:0019719), lissencephaly spectrum disorders (MONDO:0018838), Baraitser-Winter syndrome 1 (MONDO:0009470), intellectual disability (MONDO:0001071), Baraitser-Winter cerebrofrontofacial syndrome (MONDO:0017579), microcephaly (MONDO:0001149), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (8): Baraitser-Winter cerebrofrontofacial syndrome (Orphanet:2995), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare non-syndromic genetic deafness (Orphanet:87884), Rare genetic deafness (Orphanet:96210), Renal or urinary tract malformation (Orphanet:93545), Lissencephaly (Orphanet:48471), Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome (Orphanet:2649), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

76 total (30 of 76 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000072	Hydroureter
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000202	Orofacial cleft
HP:0000219	Thin upper lip vermilion
HP:0000233	Thin vermilion border
HP:0000239	Large fontanelles
HP:0000243	Trigonocephaly
HP:0000252	Microcephaly
HP:0000270	Delayed cranial suture closure
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000408	Progressive sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000437	Depressed nasal tip
HP:0000445	Wide nose
HP:0000448	Prominent nose
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000482	Microcornea
HP:0000494	Downslanted palpebral fissures

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST005235_15	Hand grip strength	1.000000e-08
GCST010002_133	Refractive error	2.000000e-50
GCST011349_27	Gamma glutamyl transferase levels	2.000000e-10
GCST011352_6	Alanine aminotransferase levels	4.000000e-10
GCST90011898_59	Alanine aminotransferase levels	7.000000e-25
GCST90013405_145	Liver enzyme levels (alanine transaminase)	1.000000e-32
GCST90013407_27	Liver enzyme levels (gamma-glutamyl transferase)	5.000000e-83

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006941	grip strength measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D054082	Lissencephaly	C10.500.507.450.499; C16.131.666.507.450.499
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C566906	Cakut (supp.)
C565754	Deafness, Autosomal Dominant 20 (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1135989	Toxicity	3	vincristine	Neurotoxicity Syndromes

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1135989	ACTG1	3	3.00	1	vincristine

CTD chemical–gene interactions

63 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, affects cotreatment, increases expression, affects binding (+1 more)	4
bisphenol A	increases expression, affects expression, decreases expression	3
Tobacco Smoke Pollution	increases expression, increases metabolic processing	3
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Copper	affects binding, decreases expression	2
Tretinoin	affects cotreatment, increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
9-hydroxyoctadecadienoic acid	increases expression	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
salinomycin	decreases expression	1
beta-lapachone	increases expression, decreases expression	1
arsenite	decreases expression, increases abundance	1
3,3’-diindolylmethane	decreases expression, increases reaction	1
bufalin	increases expression	1
zinc chromate	decreases expression, increases abundance	1
artenimol	affects binding	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
diallyl trisulfide	decreases expression	1
beta-methylcholine	affects expression	1
evodiamine	increases expression	1
jasplakinolide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
thrombin receptor-activating peptide SFLLRNPNDKY	increases secretion	1
ICG 001	decreases expression	1
ON 01910	increases expression	1

Clinical trials (associated diseases)

301 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
NCT00486577	PHASE2/PHASE3	COMPLETED	Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061	PHASE2/PHASE3	UNKNOWN	Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
NCT01423409	PHASE2/PHASE3	COMPLETED	Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People
NCT05786378	PHASE2/PHASE3	UNKNOWN	Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss.
NCT01108601	PHASE1/PHASE2	UNKNOWN	Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity
NCT01621256	PHASE1/PHASE2	COMPLETED	Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss
NCT06370351	PHASE1/PHASE2	RECRUITING	A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
NCT06545175	PHASE1/PHASE2	RECRUITING	Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma
NCT07304024	PHASE1/PHASE2	RECRUITING	A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound