ACTN1

Summary

ACTN1 (actinin alpha 1, HGNC:163) is a protein-coding gene on chromosome 14q24.1, encoding Alpha-actinin-1 (P12814). F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 87 — RefSeq curated summary.

At a glance

• Gene–disease (curated): platelet-type bleeding disorder 15 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 28
• Clinical variants (ClinVar): 615 total — 4 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 12
• Druggable target: yes
• MANE Select transcript: NM_001130004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:163
Approved symbol	ACTN1
Name	actinin alpha 1
Location	14q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000072110
Ensembl biotype	protein_coding
OMIM	102575
Entrez	87

Gene structure

Transcript identifiers

Ensembl transcripts: 66 — 44 protein_coding, 15 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000193403, ENST00000376839, ENST00000394419, ENST00000438964, ENST00000538545, ENST00000544964, ENST00000553290, ENST00000553370, ENST00000553659, ENST00000553779, ENST00000553882, ENST00000554158, ENST00000554508, ENST00000555075, ENST00000555616, ENST00000556083, ENST00000556203, ENST00000556343, ENST00000556432, ENST00000556433, ENST00000556571, ENST00000679147, ENST00000682130, ENST00000682291, ENST00000682298, ENST00000682331, ENST00000682378, ENST00000682381, ENST00000682522, ENST00000682559, ENST00000682602, ENST00000683069, ENST00000683198, ENST00000683225, ENST00000683261, ENST00000683267, ENST00000683342, ENST00000683780, ENST00000684096, ENST00000684146, ENST00000684182, ENST00000684287, ENST00000684340, ENST00000684598, ENST00000684638, ENST00000684639, ENST00000684713, ENST00000904823, ENST00000904824, ENST00000904825, ENST00000904826, ENST00000904827, ENST00000904828, ENST00000904829, ENST00000904830, ENST00000904831, ENST00000904832, ENST00000904833, ENST00000904834, ENST00000938290, ENST00000938291, ENST00000938292, ENST00000938293, ENST00000947391, ENST00000947392, ENST00000947393

RefSeq mRNA: 24 — MANE Select: NM_001130004 NM_001102, NM_001130004, NM_001130005, NM_001411035, NM_001411036, NM_001424012, NM_001424013, NM_001424014, NM_001424015, NM_001424016, NM_001424017, NM_001424018, NM_001424019, NM_001424020, NM_001424021, NM_001424022, NM_001424023, NM_001424024, NM_001424025, NM_001424026, NM_001424027, NM_001424028, NM_001424029, NM_001424030

CCDS: CCDS45129, CCDS45130, CCDS91890, CCDS91891, CCDS9792

Canonical transcript exons

ENST00000394419 — 22 exons

Exon	Start	End
ENSE00000658753	68893655	68893747
ENSE00000940967	68885425	68885575
ENSE00001518409	68878458	68878523
ENSE00001706026	68892053	68892283
ENSE00001805921	68890139	68890286
ENSE00002510216	68978952	68979302
ENSE00003474646	68877082	68877240
ENSE00003485245	68880810	68880989
ENSE00003497180	68904655	68904736
ENSE00003525196	68884775	68884883
ENSE00003533023	68912156	68912242
ENSE00003551599	68884168	68884308
ENSE00003573123	68882873	68883055
ENSE00003586089	68874128	68875017
ENSE00003595746	68882458	68882592
ENSE00003610614	68909955	68910042
ENSE00003626569	68878989	68879069
ENSE00003643367	68879962	68880108
ENSE00003672428	68925558	68925672
ENSE00003682622	68909318	68909396
ENSE00003686136	68921006	68921125
ENSE00003690562	68902477	68902562

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 242.3703 / max 1404.9377, expressed in 1815 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143866	165.3186	1802
143865	38.3928	1783
143864	19.2010	1763
143867	16.7720	1754
143854	0.6850	465
143853	0.5614	316
143863	0.5437	287
143852	0.4617	249
207272	0.2395	88
207273	0.1946	79

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	99.88	gold quality
saphenous vein	UBERON:0007318	99.67	gold quality
ascending aorta	UBERON:0001496	99.60	gold quality
thoracic aorta	UBERON:0001515	99.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.60	gold quality
aorta	UBERON:0000947	99.58	gold quality
right coronary artery	UBERON:0001625	99.58	gold quality
lower esophagus	UBERON:0013473	99.58	gold quality
popliteal artery	UBERON:0002250	99.57	gold quality
tibial artery	UBERON:0007610	99.57	gold quality
stromal cell of endometrium	CL:0002255	99.54	gold quality
descending thoracic aorta	UBERON:0002345	99.53	gold quality
smooth muscle tissue	UBERON:0001135	99.48	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.46	gold quality
myometrium	UBERON:0001296	99.43	gold quality
seminal vesicle	UBERON:0000998	99.39	gold quality
mucosa of stomach	UBERON:0001199	99.39	gold quality
coronary artery	UBERON:0001621	99.39	gold quality
left coronary artery	UBERON:0001626	99.39	gold quality
body of uterus	UBERON:0009853	99.39	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.38	gold quality
cauda epididymis	UBERON:0004360	99.19	gold quality
left uterine tube	UBERON:0001303	99.13	gold quality
hair follicle	UBERON:0002073	99.12	gold quality
urethra	UBERON:0000057	99.09	gold quality
gall bladder	UBERON:0002110	98.91	gold quality
urinary bladder	UBERON:0001255	98.83	gold quality
nipple	UBERON:0002030	98.80	gold quality
trabecular bone tissue	UBERON:0002483	98.80	gold quality
prostate gland	UBERON:0002367	98.75	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	1106.08
E-MTAB-10287	yes	46.23
E-HCAD-4	yes	37.09
E-MTAB-8410	yes	36.63
E-GEOD-135922	yes	36.48
E-HCAD-1	yes	34.32
E-CURD-112	yes	33.02
E-CURD-122	yes	22.18
E-HCAD-10	yes	16.71
E-MTAB-9221	yes	16.37
E-MTAB-9067	yes	14.48
E-CURD-46	yes	9.36
E-HCAD-11	yes	9.20
E-MTAB-9801	yes	6.77
E-MTAB-10553	yes	5.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting ACTN1, 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-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811

Literature-anchored findings (GeneRIF, showing 40)

• Identification of a 31 kD amino-terminal fragment of alpha-actinin protein, named mactinin, that promotes monocyte/macrophage maturation in vitro. (PMID:10029173)
• the focal adhesion component alpha-actinin interacts with syndecan-4 in a beta-integrin-independent manner (PMID:12493766)
• an alpha-actinin-dependent association between the actin cytoskeleton and A2AR trafficking (PMID:12837758)
• the dynamics of alpha-actinin are important for PI 3-kinase-induced reorganization of the actin cytoskeleton (PMID:15710624)
• GluR4 may regulate its synaptic targeting through phosphorylation-dependent interactions with alpha-Actinin-1 and IQGAP1 (PMID:16190873)
• S1P-induced recruitment of S1P1 to CEM fractions promotes PI3 kinase-mediated Tiam1/Rac1 activation required for alpha-actinin-1/4-regulated cortical actin rearrangement and EC barrier enhancement (PMID:16195373)
• Results show that the interaction between two species with weak affinity in solution, such as vinculin and alpha-actinin, can be visualized in a membrane-like environment. (PMID:16430917)
• Alpha-actinin plays a role in regulating cell survival through stabilization of focal adhesions and regulation of TNF-alpha-induced survival signaling. (PMID:16807302)
• Results show that the interaction between ICAM-5 and alpha-actinin is mediated through binding of positively charged amino acids near the transmembrane domain of ICAM-5, and this interaction may play an important role in neuronal differentiation. (PMID:16820411)
• Interaction of alpha 1 actinin with ICAM-1 is required for leukocyte extravasation. (PMID:16951376)
• Molecular dynamics method was applied to investigate the mechanical behaviour of the human skeletal muscle alpha-actinin. (PMID:17115122)
• there is an alpha-actinin-1-dependent mGlu(5b) receptor association with the actin cytoskeleton modulating receptor cell surface expression and functioning (PMID:17311919)
• ACT1 is de-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium. (PMID:17525629)
• Alpha-actinin-1 phosphorylation at Y12 plays a crucial role in pressure-activated cell adhesion and mechanotransduction by facilitating Src recruitment to beta(1)-integrin, and consequently the association of focal adhesion kinase with Src. (PMID:17898132)
• Taken together, alpha-actinin not only attaches TRPP3 to the cytoskeleton but also up-regulates TRPP3 channel function. (PMID:17944866)
• study examines the mechanism by which phosphoinositide binding regulates alpha-actinin function (PMID:17965186)
• A subset of the tumor-specific splicing alterations (ACTN1, CALD1, and VCL) was found in all three organs and may represent general cancer-related splicing events. (PMID:18353764)
• alpha-actinin-1 may play a role in human glomerular disease (PMID:18408146)
• two sm-titin Zq domains interact with each other and with the two R2-R3 sites in the alpha-actinin central rod (PMID:18519573)
• interaction of GNE with alpha-actinin 1 might point to its involvement in alpha-actinin mediated processes (PMID:18560563)
• ICAM-2 mediates suppression of metastatic phenotype and the interaction of ICAM-2/alpha-actinin/actin represents the first complete membrane-linker protein-actin linkage to impact tumor cell motility in vitro and metastatic potential in an in vivo model. (PMID:18978946)
• Data describe alterations of myocardial intercellular and cell-matrix contacts in hypertrophic tissue, and show intracellular translocation of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 in both an animal model and in LVH patients. (PMID:19094982)
• Mactinin is a novel inducer of Hsp90 activity on monocytes and may serve to perpetuate and augment monocytic activation. (PMID:19715605)
• cathepsin X overexpression reduced LFA-1 clustering and induced an intermediate affinity LFA-1 conformation that is known to associate with alpha-actinin-1. (PMID:19750481)
• Both alpha-actinin-1 and alpha-actinin-4 make critical and distinct contributions to cytoskeletal organization, rigidity-sensing, and motility of glioma cells. (PMID:20037648)
• Alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells. (PMID:20156433)
• The results suggest that the interaction between HAMLET and alpha-actinins promotes tumor cell detachment. (PMID:21408150)
• Actinin-1 and cortactin showed matrix-contact-side localization in adenocarcinoma cells. (PMID:21474972)
• The C-terminal polybasic region of CYTH2 participates in interacting directly with the EFh2 domain of ACTN1. (PMID:22659138)
• The alpha-actinin/EWI motif-containing protein 2 (EWI-2) complex is involved in regulation of the actin cytoskeleton at T cell immune and virological synapses, providing a link between membrane microdomains and structures involved in T cell recognition. (PMID:22689882)
• Loss of dorsal stress fibers either by depleting alpha-actinin-1 or Rac1 results in a beta-actin accumulation at the leading edge in migrating and spreading cells. (PMID:23132927)
• Alpha actinin 1, a cytoskeleton protein implicated in inflammatory/degenerative autoimmune diseases, might be regarded as a novel multiple sclerosis autoantigen. (PMID:23139387)
• Transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes. (PMID:23434115)
• The tyrosine phosphorylation of alpha-actinin1 at Y12 and alpha-actinin4 at Y265 is critical for dorsal stress fiber establishment, transverse arc maintenance and focal adhesion maturation. (PMID:23454549)
• Actinin-alpha1 readily forms heterodimers composed of monomers that may have different properties and interacting proteins, altering our view of non-muscle actinin, thus altering our view of non-muscle actinin function. (PMID:23557398)
• We conclude that alpha-actinin stabilizes Ca(V)1.2 at the plasma membrane and that its displacement by calcium-calmodulin triggers calcium-induced endocytosis of Ca(V)1.2, thus providing an important negative feedback mechanism for calcium influx. (PMID:23664615)
• A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. (PMID:24069336)
• ACTN1-related thrombocytopenia is characterized by mild course with platelet macrocytosis and low risk for bleeding. (PMID:25361813)
• ArgBP2 interaction with alpha-actinin and actin stress fibers inhibits cell migration (PMID:25429109)
• ACTN1 determines the motility of keratinocytes by regulating the organization of the actin cytoskeleton, focal adhesion, and hemidesmosome proteins complexes, thereby modulating cell speed, lamellipodial dynamics, and directed migration (PMID:25431851)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	actn1	ENSDARG00000007219
mus_musculus	Actn1	ENSMUSG00000015143
rattus_norvegicus	Actn1	ENSRNOG00000056756
drosophila_melanogaster	Actn	FBGN0000667

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Alpha-actinin-1 — P12814 (reviewed: P12814)

Alternative names: Alpha-actinin cytoskeletal isoform, F-actin cross-linking protein, Non-muscle alpha-actinin-1

All UniProt accessions (24): P12814, A0A024R694, A0A7I2V4Y4, A0A804HII9, A0A804HIN7, A0A804HIY0, A0A804HJN7, A0A804HJQ9, A0A804HJU8, A0A804HK61, A0A804HKE2, A0A804HL31, A0A804HLD0, A0A804HLF4, G3V2E8, G3V2N5, G3V2W4, G3V2X9, G3V380, G3V5M4, H0YJ11, H0YJW3, H7C5W8, H9KV75

UniProt curated annotations — full annotation on UniProt →

Function. F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation.

Subunit / interactions. Homodimer; antiparallel. Interacts with MYOZ2, TTID and LPP. Interacts with DDN. Interacts with PSD. Interacts with MICALL2. Interacts with DNM2 and CTTN. Interacts with PDLIM1. Interacts with PDLIM2. Interacts with PDLIM4 (via PDZ domain). Interacts with IGSF8.

Subcellular location. Cytoplasm. Cytoskeleton. Myofibril. Sarcomere. Z line. Cell membrane. Cell junction. Cell projection. Ruffle.

Disease relevance. Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the alpha-actinin family.

Isoforms (4)

UniProt ID	Names	Canonical?
P12814-1	1	yes
P12814-2	2
P12814-3	3
P12814-4	4

RefSeq proteins (24): NP_001093, NP_001123476, NP_001123477, NP_001397964, NP_001397965, NP_001410941, NP_001410942, NP_001410943, NP_001410944, NP_001410945, NP_001410946, NP_001410947, NP_001410948, NP_001410949, NP_001410950, NP_001410951, NP_001410952, NP_001410953, NP_001410954, NP_001410955, NP_001410956, NP_001410957, NP_001410958, NP_001410959 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001715	CH_dom	Domain
IPR002017	Spectrin_repeat	Repeat
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR014837	EF-hand_Ca_insen	Domain
IPR018159	Spectrin/alpha-actinin	Repeat
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR036872	CH_dom_sf	Homologous_superfamily

Pfam: PF00307, PF00435, PF08726, PF13405

UniProt features (81 total): helix 25, modified residue 9, sequence variant 9, sequence conflict 8, strand 8, binding site 5, domain 4, repeat 4, splice variant 3, turn 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2EYI	X-RAY DIFFRACTION	1.7
2EYN	X-RAY DIFFRACTION	1.8
2N8Y	SOLUTION NMR
2N8Z	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12814-F1	85.39	0.50

Functional residue map

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

Ligand- & substrate-binding residues (5): 759; 761; 763; 765; 770

Post-translational modifications (9): 1, 6, 12, 95, 195, 471, 676, 677, 890

Function

Pathways and Gene Ontology

Reactome pathways

20 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-3000170	Syndecan interactions
R-HSA-373753	Nephrin family interactions
R-HSA-446388	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013418	RHOBTB2 GTPase cycle
R-HSA-9035034	RHOF GTPase cycle
R-HSA-109582	Hemostasis
R-HSA-1474244	Extracellular matrix organization
R-HSA-1500931	Cell-Cell communication
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-446353	Cell-extracellular matrix interactions
R-HSA-446728	Cell junction organization
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+
R-HSA-9012999	RHO GTPase cycle
R-HSA-9706574	RHOBTB GTPase Cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 576 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, CREL_01, MODULE_52, DAVIES_MULTIPLE_MYELOMA_VS_MGUS_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_PLATELET_ACTIVATION, MODULE_45, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_FOCAL_ADHESION_ASSEMBLY, TATTATA_MIR374

GO Biological Process (12): actin filament organization (GO:0007015), actin cytoskeleton organization (GO:0030036), platelet formation (GO:0030220), platelet morphogenesis (GO:0036344), regulation of apoptotic process (GO:0042981), focal adhesion assembly (GO:0048041), actin filament bundle assembly (GO:0051017), actin filament network formation (GO:0051639), muscle cell development (GO:0055001), positive regulation of DNA-templated transcription (GO:0045893), anatomical structure formation involved in morphogenesis (GO:0048646), postsynapse organization (GO:0099173)

GO Molecular Function (15): transcription coactivator activity (GO:0003713), double-stranded RNA binding (GO:0003725), integrin binding (GO:0005178), calcium ion binding (GO:0005509), vinculin binding (GO:0017166), protein homodimerization activity (GO:0042803), transmembrane transporter binding (GO:0044325), actin filament binding (GO:0051015), structural constituent of postsynapse (GO:0099186), actin binding (GO:0003779), protein binding (GO:0005515), cytoskeletal protein binding (GO:0008092), identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), metal ion binding (GO:0046872)

GO Cellular Component (28): stress fiber (GO:0001725), ruffle (GO:0001726), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), brush border (GO:0005903), cell-cell junction (GO:0005911), fascia adherens (GO:0005916), focal adhesion (GO:0005925), Z disc (GO:0030018), cell junction (GO:0030054), cortical actin cytoskeleton (GO:0030864), platelet alpha granule lumen (GO:0031093), pseudopodium (GO:0031143), cell projection (GO:0042995), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), cytoskeleton (GO:0005856), actin filament (GO:0005884), actin cytoskeleton (GO:0015629), membrane (GO:0016020), sarcomere (GO:0030017), organelle (GO:0043226), synapse (GO:0045202), anchoring junction (GO:0070161), plasma membrane bounded cell projection (GO:0120025)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
RHO GTPase cycle	3
Cell-Cell communication	2
Response to elevated platelet cytosolic Ca2+	1
Non-integrin membrane-ECM interactions	1
Cell-extracellular matrix interactions	1
RHOBTB GTPase Cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Extracellular matrix organization	1
Cell junction organization	1
Hemostasis	1
Platelet activation, signaling and aggregation	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
protein binding	3
protein-containing complex binding	2
cytoskeletal protein binding	2
binding	2
plasma membrane bounded cell projection	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeleton organization	1
actin filament-based process	1
myeloid cell differentiation	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell morphogenesis	1
apoptotic process	1
regulation of programmed cell death	1
cell-substrate junction assembly	1
cell-matrix adhesion	1
cellular component assembly	1
actin filament bundle organization	1
actin filament organization	1
muscle cell differentiation	1
cell development	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
anatomical structure morphogenesis	1
developmental process	1
cellular component organization	1
synapse organization	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
RNA binding	1
signaling receptor binding	1
cell adhesion molecule binding	1
metal ion binding	1
identical protein binding	1
protein dimerization activity	1
actin binding	1
postsynapse	1

Protein interactions and networks

STRING

2464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTN1	CFL1	P23528	908
ACTN1	CFL2	Q9Y281	897
ACTN1	VCL	P18206	893
ACTN1	PDLIM1	O00151	854
ACTN1	GSN	P06396	837
ACTN1	SRC	P12931	795
ACTN1	ACTN4	O43707	775
ACTN1	TLN1	Q9Y490	765
ACTN1	ACTB	P02570	760
ACTN1	PDLIM2	Q96JY6	759
ACTN1	PFN1	P07737	733
ACTN1	TTN	Q8WZ42	733
ACTN1	DCAF5	Q96JK2	724
ACTN1	TPM1	P09493	719
ACTN1	MYOT	Q9UBF9	716

IntAct

287 interactions, top by confidence:

A	B	Type	Score
ACTN1	MYOZ2	psi-mi:“MI:0915”(physical association)	0.810
MYOZ2	ACTN1	psi-mi:“MI:0915”(physical association)	0.810
ACTN1	EPM2AIP1	psi-mi:“MI:0915”(physical association)	0.720
MICALL2	ACTN1	psi-mi:“MI:0915”(physical association)	0.720
EPM2AIP1	ACTN1	psi-mi:“MI:0915”(physical association)	0.720
ACTN1	MICALL2	psi-mi:“MI:0915”(physical association)	0.720
MAPT	ANXA2	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ACTN1	OAS1	psi-mi:“MI:0915”(physical association)	0.670
OAS1	ACTN1	psi-mi:“MI:0915”(physical association)	0.670
ACTN1	C14orf119	psi-mi:“MI:0915”(physical association)	0.670
ACTN1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.670
GNE	ACTN1	psi-mi:“MI:0407”(direct interaction)	0.590
GNE	ACTN1	psi-mi:“MI:0915”(physical association)	0.590
	ACTN1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (469): ACTN1 (Two-hybrid), ACTN3 (Two-hybrid), OAS1 (Two-hybrid), EPM2AIP1 (Two-hybrid), MYOZ2 (Two-hybrid), MICALL2 (Two-hybrid), KCTD6 (Two-hybrid), SPERT (Two-hybrid), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS)

ESM2 similar proteins: A5D7D1, L7UZ85, O43707, O88990, P05094, P11277, P12814, P15508, P18091, P20111, P26232, P30997, P35609, P46940, P57780, Q00078, Q00963, Q01082, Q08043, Q0E908, Q0III9, Q13576, Q2PFV7, Q3B7N2, Q3UQ44, Q3ZC55, Q4QR29, Q4WVG0, Q5M7J9, Q5R416, Q5RCS6, Q61301, Q62018, Q62261, Q6DEU9, Q6INS3, Q6NXC0, Q6PD62, Q7G188, Q7PKQ5

Diamond homologs: A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O94851, O97592, P05094, P05095, P07751, P11277, P11530, P11531, P11532, P11533, P12814, P13395, P13466, P15508, P16086, P16546, P18091, P20111, P21333, P30427, P35609

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
PTPN1	up-regulates	ACTN1	dephosphorylation
PTK2	down-regulates	ACTN1	phosphorylation
ACTN1	“up-regulates quantity by stabilization”	F-actin_assembly	binding
SHANK1	“up-regulates activity”	ACTN1	relocalization
SHANK2	“up-regulates activity”	ACTN1	relocalization
SHANK3	“up-regulates activity”	ACTN1	relocalization
ACTN1	up-regulates	Actin_cytoskeleton_reorganization
PTK2	“down-regulates activity”	ACTN1	phosphorylation
ACTN1	“down-regulates activity”	PTK2	binding
PTPN1	“down-regulates activity”	ACTN1	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Leishmania infection	6	11.7×	4e-03
Parasitic Infection Pathways	6	11.7×	4e-03
FCGR3A-mediated phagocytosis	5	11.1×	8e-03
Regulation of actin dynamics for phagocytic cup formation	5	11.0×	8e-03
RHOQ GTPase cycle	5	10.8×	8e-03
Sensory processing of sound by inner hair cells of the cochlea	5	9.7×	9e-03
Signaling by ALK fusions and activated point mutants	5	8.9×	1e-02
RHO GTPase Effectors	7	5.7×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
sarcomere organization	5	17.9×	2e-03
synapse organization	6	15.8×	1e-03
platelet aggregation	5	15.8×	3e-03
positive regulation of translation	5	10.6×	9e-03
actin cytoskeleton organization	12	8.9×	1e-05
positive regulation of apoptotic process	9	4.8×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	16
Uncertain significance	268
Likely benign	182
Benign	87

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
1684463	NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys)	Pathogenic
2423522	NC_000014.8:g.(?68699594)(70654407_?)del	Pathogenic
42029	NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys)	Pathogenic
42033	NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	Pathogenic
1684466	NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)	Likely pathogenic
1693577	NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp)	Likely pathogenic
1704200	NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)	Likely pathogenic
2691936	NM_001130004.2(ACTN1):c.2225G>T (p.Gly742Val)	Likely pathogenic
3358738	NM_001130004.2(ACTN1):c.1184T>A (p.Leu395Gln)	Likely pathogenic
3393125	NM_001130004.2(ACTN1):c.388A>G (p.Ile130Val)	Likely pathogenic
443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	Likely pathogenic
57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	Likely pathogenic
627187	NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer)	Likely pathogenic
627246	NM_001130004.2(ACTN1):c.1592A>T (p.Asp531Val)	Likely pathogenic
666541	NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu)	Likely pathogenic
666543	NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg)	Likely pathogenic
666544	NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)	Likely pathogenic
666545	NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val)	Likely pathogenic
666548	NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)	Likely pathogenic
988884	NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)	Likely pathogenic

SpliceAI

3575 predictions. Top by Δscore:

Variant	Effect	Δscore
14:68877077:CCCA:C	donor_loss	1.0000
14:68877078:CCAC:C	donor_loss	1.0000
14:68877079:CACC:C	donor_loss	1.0000
14:68877080:A:T	donor_loss	1.0000
14:68877236:TCTCC:T	acceptor_gain	1.0000
14:68877237:CTCC:C	acceptor_gain	1.0000
14:68877237:CTCCC:C	acceptor_gain	1.0000
14:68877238:TCC:T	acceptor_gain	1.0000
14:68877238:TCCCT:T	acceptor_gain	1.0000
14:68877239:CC:C	acceptor_gain	1.0000
14:68877239:CCC:C	acceptor_gain	1.0000
14:68877240:CC:C	acceptor_gain	1.0000
14:68877241:C:CC	acceptor_gain	1.0000
14:68877241:C:T	acceptor_gain	1.0000
14:68877241:CTGGA:C	acceptor_loss	1.0000
14:68879956:TCTCA:T	donor_loss	1.0000
14:68879957:CTCA:C	donor_loss	1.0000
14:68879958:TCA:T	donor_loss	1.0000
14:68879959:CACC:C	donor_loss	1.0000
14:68879960:A:AC	donor_gain	1.0000
14:68879960:AC:A	donor_gain	1.0000
14:68879960:ACCCG:A	donor_loss	1.0000
14:68879961:C:CC	donor_gain	1.0000
14:68879961:CC:C	donor_gain	1.0000
14:68880104:ATGTG:A	acceptor_gain	1.0000
14:68880105:TGTG:T	acceptor_gain	1.0000
14:68880106:GTG:G	acceptor_gain	1.0000
14:68880107:TG:T	acceptor_gain	1.0000
14:68880107:TGCTG:T	acceptor_loss	1.0000
14:68880109:C:CC	acceptor_gain	1.0000

AlphaMissense

6105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:68874892:G:C	F882L	1.000
14:68874892:G:T	F882L	1.000
14:68874894:A:G	F882L	1.000
14:68874958:G:C	C860W	1.000
14:68874983:A:G	L852P	1.000
14:68874995:A:G	L848P	1.000
14:68879019:G:C	S777R	1.000
14:68879019:G:T	S777R	1.000
14:68879021:T:G	S777R	1.000
14:68879026:A:G	L775P	1.000
14:68879968:A:C	F758L	1.000
14:68879968:A:T	F758L	1.000
14:68879970:A:G	F758L	1.000
14:68879987:C:G	R752P	1.000
14:68880024:C:G	A740P	1.000
14:68880029:C:G	R738P	1.000
14:68880035:A:G	L736P	1.000
14:68880041:T:G	Q734P	1.000
14:68880083:A:G	L720P	1.000
14:68882558:A:G	L618P	1.000
14:68882569:C:A	R614S	1.000
14:68882569:C:G	R614S	1.000
14:68882570:C:A	R614M	1.000
14:68882881:A:G	W604R	1.000
14:68882881:A:T	W604R	1.000
14:68883029:G:C	F554L	1.000
14:68883029:G:T	F554L	1.000
14:68883030:A:G	F554S	1.000
14:68883031:A:G	F554L	1.000
14:68883051:A:G	L547P	1.000

dbSNP variants (sampled 300 via entrez): RS1000002670 (14:68946427 C>T), RS1000010249 (14:68926430 G>A), RS1000075180 (14:68933376 T>C), RS1000076949 (14:68932626 C>A), RS1000098351 (14:68972981 T>C), RS1000149713 (14:68905501 A>G), RS1000150994 (14:68892605 G>A), RS1000164318 (14:68969835 A>G), RS1000207662 (14:68944737 T>A,C), RS1000223476 (14:68881939 T>A,C), RS1000232356 (14:68923738 C>T), RS1000252445 (14:68949206 A>G), RS1000300977 (14:68969540 C>T), RS1000325606 (14:68957405 C>G), RS1000345082 (14:68918167 C>A)

Disease associations

OMIM: gene MIM:102575 | disease phenotypes: MIM:615193

GenCC curated gene-disease

Disease	Classification	Inheritance
platelet-type bleeding disorder 15	Definitive	Autosomal dominant
autosomal dominant macrothrombocytopenia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
platelet-type bleeding disorder 15	Definitive	AD

Mondo (3): platelet-type bleeding disorder 15 (MONDO:0014078), thrombocytopenia (MONDO:0002049), autosomal dominant macrothrombocytopenia (MONDO:0015372)

Orphanet (1): Autosomal dominant macrothrombocytopenia (Orphanet:140957)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000421	Epistaxis
HP:0000978	Bruising susceptibility
HP:0001873	Thrombocytopenia
HP:0004846	Prolonged bleeding after surgery
HP:0004866	Impaired ADP-induced platelet aggregation
HP:0006298	Prolonged bleeding after dental extraction
HP:0011877	Increased mean platelet volume
HP:0031126	Impaired clot retraction
HP:0032438	Platelet anisocytosis
HP:0040185	Macrothrombocytopenia
HP:0100608	Metrorrhagia

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000349_6	Smoking behavior	7.000000e-06
GCST001942_16	Prostate cancer	3.000000e-10
GCST002127_23	Periodontitis (Mean PAL)	4.000000e-06
GCST002147_1	Fibrinogen	1.000000e-08
GCST003075_53	Cognitive decline rate in late mild cognitive impairment	9.000000e-07
GCST003075_89	Cognitive decline rate in late mild cognitive impairment	2.000000e-06
GCST003383_2	Platelet count	1.000000e-28
GCST004121_5	Fibrinogen levels	4.000000e-13
GCST004122_7	Fibrinogen levels	8.000000e-14
GCST004599_168	Mean platelet volume	1.000000e-28
GCST004599_169	Mean platelet volume	2.000000e-27
GCST004616_56	Platelet distribution width	1.000000e-16
GCST004863_68	Mosquito bite size	4.000000e-06
GCST005568_55	Rheumatoid arthritis (ACPA-positive)	2.000000e-06
GCST005991_34	Platelet count	2.000000e-11
GCST006586_33	Urinary albumin excretion	6.000000e-09
GCST006940_151	Neurociticism	2.000000e-09
GCST006947_14	Feeling fed-up	1.000000e-08
GCST006951_6	Feeling hurt	8.000000e-09
GCST007626_2	Lack of perseverance	7.000000e-07
GCST007923_22	Medication use (drugs used in diabetes)	1.000000e-08
GCST009798_33	Asthma	7.000000e-13
GCST90002385_30	High light scatter reticulocyte count	4.000000e-09
GCST90002395_205	Mean platelet volume	7.000000e-11
GCST90002395_206	Mean platelet volume	3.000000e-51
GCST90002400_135	Plateletcrit	5.000000e-11
GCST90002401_75	Platelet distribution width	6.000000e-25
GCST90002402_188	Platelet count	3.000000e-36

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0007710	cognitive decline measurement
EFO:0004309	platelet count
EFO:0007984	platelet component distribution width
EFO:0008378	mosquito bite reaction size measurement
EFO:0004285	albuminuria
EFO:0007660	neuroticism measurement
EFO:0009588	feeling “fed-up” measurement
EFO:0009599	feeling emotionally hurt measurement
EFO:0006946	behavioural disinhibition measurement
EFO:0009924	Drugs used in diabetes use measurement
EFO:0007986	reticulocyte count
EFO:0007985	platelet crit

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066960 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2268979	ACTN1		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.75	Kd	177.4	nM	CHEMBL5653589
6.75	ED50	177.4	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147795: Binding affinity to human ACTN1 incubated for 45 mins by Kinobead based pull down assay	kd	0.1774	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, decreases expression	5
methylmercuric chloride	increases expression, affects cotreatment	4
bisphenol A	decreases reaction, increases abundance, affects cotreatment, decreases expression, increases expression	4
cobaltous chloride	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Doxorubicin	affects response to substance, increases expression	2
Estradiol	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression	2
Valproic Acid	increases expression, increases methylation	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
ginger extract	decreases expression, decreases reaction, increases abundance, increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
bis(tri-n-butyltin)oxide	increases expression	1
sodium arsenate	decreases expression	1
titanium dioxide	decreases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects cotreatment, affects localization	1
tributyltin	increases expression	1
quercitrin	affects expression	1
beta-lapachone	decreases expression, increases expression	1
trimellitic anhydride	decreases expression	1
sodium arsenite	increases expression	1
sulindac sulfide	decreases expression	1
ochratoxin A	increases expression	1
4-hydroxy-2-nonenal	affects binding	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650837	Binding	Binding affinity to human ACTN1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

8 cell lines: 3 cancer cell line, 3 transformed cell line, 2 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1IY	Abcam HeLa ACTN1 KO	Cancer cell line	Female
CVCL_D7G1	Ubigene HEK293T ACTN1 KO	Transformed cell line	Female
CVCL_SB29	HAP1 ACTN1 (-) 1	Cancer cell line	Male
CVCL_XL01	HAP1 ACTN1 (-) 2	Cancer cell line	Male
CVCL_ZV88	HEK293 Actinin-C-cpstFRET	Transformed cell line	Female
CVCL_ZV89	HEK293 Actinin-M-cpstFRET	Transformed cell line	Female
CVCL_ZV92	MDCK Actinin-C-cpstFRET	Spontaneously immortalized cell line	Female
CVCL_ZV93	MDCK Actinin-M-cpstFRET	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
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