Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5358
Gene name	Plastin 3
Gene symbol	PLS3
Synonyms (NCBI Gene)	BMND18DIH5T-plastin
Chromosome	X
Chromosome location	Xq23
Summary	Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135402748	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603241972	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023553	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024836	hsa-miR-215-5p	Microarray	19074876
MIRT026136	hsa-miR-192-5p	Microarray	19074876
MIRT045702	hsa-miR-125a-5p	CLASH	23622248
MIRT044656	hsa-miR-320a	CLASH	23622248
MIRT044656	hsa-miR-320a	CLASH	23622248
MIRT041457	hsa-miR-193b-3p	CLASH	23622248
MIRT038184	hsa-miR-148b-5p	CLASH	23622248
MIRT240846	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT240852	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT329645	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT329646	hsa-miR-3658	PAR-CLIP	21572407
MIRT439945	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439945	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT240846	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT240852	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT329645	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT329646	hsa-miR-3658	PAR-CLIP	21572407
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT1243212	hsa-miR-3613-3p	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT1552389	hsa-miR-103a	CLIP-seq
MIRT1552390	hsa-miR-107	CLIP-seq
MIRT1552391	hsa-miR-1179	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT1552393	hsa-miR-185	CLIP-seq
MIRT1552394	hsa-miR-3150b-3p	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT1552396	hsa-miR-4266	CLIP-seq
MIRT1552397	hsa-miR-4306	CLIP-seq
MIRT1552398	hsa-miR-4310	CLIP-seq
MIRT1552399	hsa-miR-4436b-3p	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT1552402	hsa-miR-4644	CLIP-seq
MIRT1552403	hsa-miR-4695-5p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT1552405	hsa-miR-4779	CLIP-seq
MIRT1552406	hsa-miR-4784	CLIP-seq
MIRT1552407	hsa-miR-556-5p	CLIP-seq
MIRT1552408	hsa-miR-765	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT2595810	hsa-miR-1247	CLIP-seq
MIRT2595811	hsa-miR-125a-3p	CLIP-seq
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT2595812	hsa-miR-1279	CLIP-seq
MIRT2595813	hsa-miR-1303	CLIP-seq
MIRT2595814	hsa-miR-2053	CLIP-seq
MIRT2595815	hsa-miR-208a	CLIP-seq
MIRT2595816	hsa-miR-208b	CLIP-seq
MIRT2595817	hsa-miR-297	CLIP-seq
MIRT2595818	hsa-miR-3121-5p	CLIP-seq
MIRT2595819	hsa-miR-3153	CLIP-seq
MIRT2595820	hsa-miR-3161	CLIP-seq
MIRT2595821	hsa-miR-3171	CLIP-seq
MIRT2595822	hsa-miR-3185	CLIP-seq
MIRT2595823	hsa-miR-323-3p	CLIP-seq
MIRT2595824	hsa-miR-330-3p	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT2595825	hsa-miR-345	CLIP-seq
MIRT2595826	hsa-miR-3591-3p	CLIP-seq
MIRT2595827	hsa-miR-3591-5p	CLIP-seq
MIRT2595828	hsa-miR-3606	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT2595829	hsa-miR-3617	CLIP-seq
MIRT2595830	hsa-miR-3622a-3p	CLIP-seq
MIRT2595831	hsa-miR-3622b-3p	CLIP-seq
MIRT2595832	hsa-miR-3646	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT2595833	hsa-miR-3663-3p	CLIP-seq
MIRT2595834	hsa-miR-3667-5p	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT2595835	hsa-miR-3682-3p	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT2595836	hsa-miR-371b-5p	CLIP-seq
MIRT2595837	hsa-miR-3926	CLIP-seq
MIRT2595838	hsa-miR-3934	CLIP-seq
MIRT2595839	hsa-miR-412	CLIP-seq
MIRT2595840	hsa-miR-421	CLIP-seq
MIRT2595841	hsa-miR-4272	CLIP-seq
MIRT2595842	hsa-miR-4279	CLIP-seq
MIRT2595843	hsa-miR-4282	CLIP-seq
MIRT2595844	hsa-miR-4303	CLIP-seq
MIRT2595845	hsa-miR-4307	CLIP-seq
MIRT1552398	hsa-miR-4310	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT2595846	hsa-miR-433	CLIP-seq
MIRT2595847	hsa-miR-4422	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT2595848	hsa-miR-4477b	CLIP-seq
MIRT2595849	hsa-miR-451b	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT2595850	hsa-miR-4540	CLIP-seq
MIRT2595851	hsa-miR-4635	CLIP-seq
MIRT2595852	hsa-miR-4639-3p	CLIP-seq
MIRT2595853	hsa-miR-4642	CLIP-seq
MIRT2595854	hsa-miR-4659a-3p	CLIP-seq
MIRT2595855	hsa-miR-4659b-3p	CLIP-seq
MIRT2595856	hsa-miR-4668-5p	CLIP-seq
MIRT2595857	hsa-miR-4693-5p	CLIP-seq
MIRT2595858	hsa-miR-4698	CLIP-seq
MIRT2595859	hsa-miR-4709-3p	CLIP-seq
MIRT2595860	hsa-miR-4709-5p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT2595861	hsa-miR-4714-5p	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT2595862	hsa-miR-4773	CLIP-seq
MIRT2595863	hsa-miR-4790-3p	CLIP-seq
MIRT2595864	hsa-miR-487a	CLIP-seq
MIRT2595865	hsa-miR-495	CLIP-seq
MIRT2595866	hsa-miR-499-5p	CLIP-seq
MIRT2595867	hsa-miR-513a-3p	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT2595868	hsa-miR-548ag	CLIP-seq
MIRT2595869	hsa-miR-548ai	CLIP-seq
MIRT2595870	hsa-miR-548l	CLIP-seq
MIRT2595871	hsa-miR-548n	CLIP-seq
MIRT2595872	hsa-miR-548s	CLIP-seq
MIRT2595873	hsa-miR-552	CLIP-seq
MIRT2595874	hsa-miR-554	CLIP-seq
MIRT2595875	hsa-miR-567	CLIP-seq
MIRT2595876	hsa-miR-569	CLIP-seq
MIRT2595877	hsa-miR-583	CLIP-seq
MIRT2595878	hsa-miR-605	CLIP-seq
MIRT2595879	hsa-miR-619	CLIP-seq
MIRT2595880	hsa-miR-641	CLIP-seq
MIRT2595881	hsa-miR-664	CLIP-seq
MIRT2595882	hsa-miR-764	CLIP-seq
MIRT2595883	hsa-miR-890	CLIP-seq
MIRT2595884	hsa-miR-921	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT2595811	hsa-miR-125a-3p	CLIP-seq
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT2595814	hsa-miR-2053	CLIP-seq
MIRT2595815	hsa-miR-208a	CLIP-seq
MIRT2595816	hsa-miR-208b	CLIP-seq
MIRT2595817	hsa-miR-297	CLIP-seq
MIRT2595818	hsa-miR-3121-5p	CLIP-seq
MIRT2595819	hsa-miR-3153	CLIP-seq
MIRT2595820	hsa-miR-3161	CLIP-seq
MIRT2595821	hsa-miR-3171	CLIP-seq
MIRT2595823	hsa-miR-323-3p	CLIP-seq
MIRT2595824	hsa-miR-330-3p	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT2595825	hsa-miR-345	CLIP-seq
MIRT2595827	hsa-miR-3591-5p	CLIP-seq
MIRT2595828	hsa-miR-3606	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT2595829	hsa-miR-3617	CLIP-seq
MIRT2595832	hsa-miR-3646	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT2595837	hsa-miR-3926	CLIP-seq
MIRT2595838	hsa-miR-3934	CLIP-seq
MIRT2595841	hsa-miR-4272	CLIP-seq
MIRT2595843	hsa-miR-4282	CLIP-seq
MIRT2595845	hsa-miR-4307	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT2595846	hsa-miR-433	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT2595848	hsa-miR-4477b	CLIP-seq
MIRT2595849	hsa-miR-451b	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT2595850	hsa-miR-4540	CLIP-seq
MIRT2595851	hsa-miR-4635	CLIP-seq
MIRT2595854	hsa-miR-4659a-3p	CLIP-seq
MIRT2595855	hsa-miR-4659b-3p	CLIP-seq
MIRT2595856	hsa-miR-4668-5p	CLIP-seq
MIRT2595858	hsa-miR-4698	CLIP-seq
MIRT2595859	hsa-miR-4709-3p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT2595861	hsa-miR-4714-5p	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT2595863	hsa-miR-4790-3p	CLIP-seq
MIRT2595866	hsa-miR-499-5p	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT2595868	hsa-miR-548ag	CLIP-seq
MIRT2595869	hsa-miR-548ai	CLIP-seq
MIRT2595872	hsa-miR-548s	CLIP-seq
MIRT2595873	hsa-miR-552	CLIP-seq
MIRT2595874	hsa-miR-554	CLIP-seq
MIRT2595875	hsa-miR-567	CLIP-seq
MIRT2595876	hsa-miR-569	CLIP-seq
MIRT2595877	hsa-miR-583	CLIP-seq
MIRT2595880	hsa-miR-641	CLIP-seq
MIRT2595882	hsa-miR-764	CLIP-seq
MIRT2595884	hsa-miR-921	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005884	Component	Actin filament	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032432	Component	Actin filament bundle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051639	Process	Actin filament network formation	IBA
GO:0060348	Process	Bone development	IMP	24088043
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098699	Function	Structural constituent of presynaptic actin cytoskeleton	IEA
GO:0099140	Process	Presynaptic actin cytoskeleton organization	IEA

MIM	HGNC	e!Ensembl
300131	9091	ENSG00000102024

P13797

Protein name

Plastin-3 (T-fimbrin) (T-plastin)

Protein function

Actin-bundling protein.

PDB

1AOA , 1WJO , 7R94 , 7SX8 , 7SX9 , 7SXA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	14 → 82	EF-hand domain pair	Domain
PF00307	CH	123 → 239	Calponin homology (CH) domain	Domain
PF00307	CH	267 → 379	Calponin homology (CH) domain	Domain
PF00307	CH	397 → 507	Calponin homology (CH) domain	Domain
PF00307	CH	518 → 628	Calponin homology (CH) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a variety of organs, including muscle, brain, uterus and esophagus.

Sequence

MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKL
MLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHS
YSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDE
RAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLF
ADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSK
AYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVS
GNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLY
ADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVG
IGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTS
IQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARV
YALPEDLVEVKPKMVMTVFACLMGRGMKRV

Sequence length

630

Interactions

View interactions

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bone mineral density quantitative trait locus 18	Likely pathogenic; Pathogenic	rs781875935, rs781935919, rs2147533064, rs2521452967, rs1135402748, rs1603241972, rs2074664927	RCV003147730 RCV002250943 RCV002251141 RCV004594801 RCV000496987 RCV000990931 RCV001254100
Congenital diaphragmatic hernia	Likely pathogenic	rs2147551760	RCV001827472
Hernia, anterior diaphragmatic	Likely pathogenic	rs2147551760, rs2521471111, rs2521547128	RCV003985024 RCV003405218 RCV003412537
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2147590595, rs2147586886, rs2147533064	RCV005911325 RCV005917574 RCV005930076
Postmenopausal osteoporosis	Pathogenic	rs2147590595	RCV001526508
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2147533057, rs2147585672, rs2521453615	RCV005925661 RCV005924370 RCV005931059
X-linked osteoporosis with fractures	Likely pathogenic	rs2521534355	RCV003994702

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs140968059	RCV005917790
Cervical cancer	Benign; Likely benign	rs140968059	RCV005917791
Gastric cancer	Benign; Likely benign	rs140968059	RCV005917793
Lung cancer	Benign; Likely benign	rs140968059	RCV005917795
Osteogenesis imperfecta	Benign; Likely benign; Uncertain significance	rs140968059, rs111323826, rs377411857, rs987712053, rs202076515, rs2074663738, rs140121121	RCV002276806 RCV002276875 RCV002277829 RCV002277830 RCV002277831 RCV002277832 RCV002277139
PLS3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs140968059, rs35211005, rs149142111, rs1859671, rs2521542806, rs111323826	RCV003910897 RCV003948623 RCV003971182 RCV003958594 RCV003946768 RCV003979143
Sarcoma	Benign; Likely benign	rs140968059	RCV005917792
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs140968059	RCV005917796

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrospiroma	Associate	36812914
Adamantinoma	Associate	28748388, 38043102
Bone Diseases	Associate	24616189
Bone Diseases Metabolic	Associate	31968132
Breast Neoplasms	Associate	25880010, 30829071
Carotid Stenosis	Associate	35773742
Chronic Kidney Disease Mineral and Bone Disorder	Associate	28777485
Colorectal Neoplasms	Associate	23549633, 25902072
Femoral Fractures	Associate	28748388
Fractures Bone	Associate	24616189, 31968132, 38043102
Fractures Compression	Associate	24616189, 28748388, 38043102
Fragile X Syndrome	Associate	28777485, 30837644, 32453450, 38043102
Gait Ataxia	Associate	28777485
Juvenile osteoporosis	Associate	28748388, 28777485, 29736964, 38043102
Leukemia	Associate	18569641
Lupus Erythematosus Systemic	Associate	1522211
Lymphoma T Cell Cutaneous	Associate	18569641, 22495182, 22627769
Muscular Atrophy Spinal	Associate	26573968, 31888525, 36607273, 36812914
Muscular Dystrophy Duchenne	Associate	28748388
Mycosis Fungoides	Associate	19995369
Neoplasm Metastasis	Associate	23549633
Neoplasms	Associate	18569641, 23549633, 25226517, 25806852, 25880010, 25902072, 30829071, 32599841, 36812914, 8941723
Neoplasms Adipose Tissue	Associate	28379384
Neuromuscular Diseases	Associate	36812914
Osteogenesis Imperfecta	Associate	33166085
Osteoporosis	Associate	24616189, 25209159, 28379384, 28748388, 28777485, 29736964, 30837644, 31968132, 32318696, 32453450, 32655496, 34743040, 35276006, 35752817, 36157448, 37277619, 38043102 View all (2 more)
Osteoporosis pseudoglioma syndrome	Associate	24616189, 28748388, 30837644
Osteoporotic Fractures	Associate	30837644, 35752817
Pericarditis	Associate	1522211
Progressive hearing loss stapes fixation	Associate	25209159
Scoliosis	Associate	35752817
Sezary Syndrome	Associate	19995369, 22495182, 22627769, 25806852, 26930587
Skin Diseases	Associate	19995369, 26930587
Spinal Fractures	Associate	28748388
Spinal Muscular Atrophies of Childhood	Associate	26573968, 36812914
Spondylocostal dysostosis autosomal recessive	Associate	28748388
Squamous Cell Carcinoma of Head and Neck	Associate	35409173
Stomach Neoplasms	Associate	33095806
Travel Related Illness	Associate	37277619
Vertebral Hypoplasia With Lumbar Kyphosis	Associate	30837644

PLS3 (plastin 3)