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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	88
Gene name Gene Name - the full gene name approved by the HGNC.	Actinin alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACTN2
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q43
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434525	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs139515659	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs142482143	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148972050	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149433837	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149846886	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922635	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs199955427	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200248944	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201255023	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201920417	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs727502886	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs727504590	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs763078071	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs770335717	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs772909106	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786204949	G>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs786204950	G>C	Pathogenic	Missense variant, coding sequence variant
rs786204951	A>G	Pathogenic	Missense variant, coding sequence variant
rs786205144	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs794728966	G>A	Pathogenic	Splice acceptor variant
rs1131691370	G>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1253211384	C>T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1553303871	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1572112489	G>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1572114611	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1572140109	T>C	Pathogenic	Coding sequence variant, missense variant
rs1572148902	T>G	Pathogenic	Coding sequence variant, missense variant
rs1572148914	GCCAGAACCATCAATGAGGTGGAGACTCAGATC>-	Pathogenic	Coding sequence variant, inframe deletion

Show/Hide all(103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025892	hsa-miR-7-5p	Microarray	17612493
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637307	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT637306	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT637305	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT637304	hsa-miR-3183	HITS-CLIP	23824327
MIRT637303	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT637302	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT637301	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT637300	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637299	hsa-miR-3119	HITS-CLIP	23824327
MIRT637298	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637297	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT637296	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT637295	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT764056	hsa-miR-1	CLIP-seq
MIRT764057	hsa-miR-1255a	CLIP-seq
MIRT764058	hsa-miR-1255b	CLIP-seq
MIRT764059	hsa-miR-1324	CLIP-seq
MIRT764060	hsa-miR-186	CLIP-seq
MIRT764061	hsa-miR-206	CLIP-seq
MIRT764062	hsa-miR-3673	CLIP-seq
MIRT764063	hsa-miR-3688-3p	CLIP-seq
MIRT764064	hsa-miR-4453	CLIP-seq
MIRT764065	hsa-miR-4538	CLIP-seq
MIRT764066	hsa-miR-4765	CLIP-seq
MIRT764067	hsa-miR-520d-5p	CLIP-seq
MIRT764068	hsa-miR-524-5p	CLIP-seq
MIRT764069	hsa-miR-548p	CLIP-seq
MIRT764070	hsa-miR-556-5p	CLIP-seq
MIRT764071	hsa-miR-613	CLIP-seq
MIRT1925159	hsa-miR-23a	CLIP-seq
MIRT1925160	hsa-miR-23b	CLIP-seq
MIRT1925161	hsa-miR-23c	CLIP-seq
MIRT1925162	hsa-miR-3149	CLIP-seq
MIRT1925163	hsa-miR-5096	CLIP-seq
MIRT1925164	hsa-miR-576-3p	CLIP-seq
MIRT2383847	hsa-miR-3120-3p	CLIP-seq
MIRT1925163	hsa-miR-5096	CLIP-seq

Show/Hide all(77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	TAS	8104223
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9501083, 10427098, 10788519, 10812072, 10861853, 11101506, 11309420, 11389904, 11842093, 11846417, 12559088, 12809483, 12812986, 15205937, 15737636, 15841212, 16902413, 19815520, 19932097, 22972877, 23414517, 24860983, 25416956, 25910212, 26871637, 31413325, 31515488, 32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	25433700
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	NAS	12809483
GO:0005884	Component	Actin filament	TAS	1339456
GO:0005886	Component	Plasma membrane	IDA	19815520
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	IMP	16807302
GO:0007155	Process	Cell adhesion	TAS	10656685
GO:0008092	Function	Cytoskeletal protein binding	IDA	10427098, 11699871
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	1339456
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0019904	Function	Protein domain specific binding	IPI	19815520
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	19932097, 19943616, 25433700
GO:0030018	Component	Z disc	IEA
GO:0030035	Process	Microspike assembly	IDA	12356918
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030175	Component	Filopodium	IDA	12356918
GO:0030274	Function	LIM domain binding	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031143	Component	Pseudopodium	IEA
GO:0031143	Component	Pseudopodium	TAS	1629252
GO:0031432	Function	Titin binding	IPI	9501083, 11846417
GO:0042391	Process	Regulation of membrane potential	IMP	10812072
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	9501083, 11101506, 25416956, 25433700, 25502805, 31515488
GO:0042981	Process	Regulation of apoptotic process	NAS	16807302
GO:0042995	Component	Cell projection	IBA
GO:0043197	Component	Dendritic spine	TAS	15841212
GO:0043267	Process	Negative regulation of potassium ion transport	IMP	10812072
GO:0043268	Process	Positive regulation of potassium ion transport	IDA	17110593
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	10812072, 17110593, 17944866, 19943616
GO:0045202	Component	Synapse	IEA
GO:0045214	Process	Sarcomere organization	IMP	25433700
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048041	Process	Focal adhesion assembly	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	16807302
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051373	Function	FATZ binding	IDA	11699871
GO:0051695	Process	Actin filament uncapping	IMP	25433700
GO:0055001	Process	Muscle cell development	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070080	Function	Titin Z domain binding	IMP	25433700
GO:0070080	Function	Titin Z domain binding	IPI	11846417
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	19815520, 19943616
GO:0086097	Process	Phospholipase C-activating angiotensin-activated signaling pathway	IMP	25433700
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098973	Function	Structural constituent of postsynaptic actin cytoskeleton	IEA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0099103	Function	Channel activator activity	IMP	10812072
GO:2000009	Process	Negative regulation of protein localization to cell surface	IMP	10812072
GO:2001137	Process	Positive regulation of endocytic recycling	IEA
GO:2001137	Process	Positive regulation of endocytic recycling	IMP	19815520
GO:2001259	Process	Positive regulation of cation channel activity	IMP	19815520, 19943616

MIM	HGNC	e!Ensembl
102573	164	ENSG00000077522

Protein

UniProt ID

P35609

Protein name

Alpha-actinin-2 (Alpha-actinin skeletal muscle isoform 2) (F-actin cross-linking protein)

Protein function

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

PDB

1H8B , 1HCI , 1QUU , 4D1E , 5A36 , 5A37 , 5A38 , 5A4B , 6SWT , 6TS3 , 7A8T , 7A8U , 7B55 , 7B56 , 7B57

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	38 → 143	Calponin homology (CH) domain	Domain
PF00307	CH	151 → 258	Calponin homology (CH) domain	Domain
PF00435	Spectrin	281 → 391	Spectrin repeat	Domain
PF00435	Spectrin	401 → 506	Spectrin repeat	Domain
PF00435	Spectrin	516 → 627	Spectrin repeat	Domain
PF00435	Spectrin	637 → 740	Spectrin repeat	Domain
PF08726	EFhand_Ca_insen	824 → 890	Ca2+ insensitive EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in both skeletal and cardiac muscle.

Sequence

MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE
NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE
EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW
KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP
DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF
MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK
EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ
DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI
ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA
CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS
DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL

Sequence length

894

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy		Platelet degranulation Striated Muscle Contraction Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cardiomyopathy	Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction	rs786204950, rs786204951	N/A
Congenital myopathy	Myopathy, congenital, with structured cores and z-line abnormalities	rs1572148902, rs1572148914	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1AA	rs786205144, rs1572112489, rs727502886	N/A
Distal Myopathy	Myopathy, distal, 6, adult-onset, autosomal dominant	rs1572140109	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Congestive Heart Failure	congestive heart failure	N/A	N/A	ClinVar
Heart Failure	Heart failure	N/A	N/A	GWAS
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Tetralogy of Fallot	tetralogy of fallot	N/A	N/A	ClinVar
Ventricular Fibrillation	ventricular fibrillation	N/A	N/A	ClinVar
Ventricular Noncompaction	Left ventricular noncompaction 1	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	34794751
Arrhythmogenic Right Ventricular Dysplasia	Associate	33947203
Cardio Renal Syndrome	Associate	36078153
Cardiomyopathies	Associate	34802252, 35893073, 36078153
Cardiomyopathy Dilated	Associate	34011823, 35656879
Cardiomyopathy Hypertrophic	Associate	20022194, 27287556, 28082330, 33947203, 34802252, 36078153, 36166435
Carotid Stenosis	Associate	29436628
Congenital Abnormalities	Associate	34802252
Death Sudden	Associate	25224718
Death Sudden Cardiac	Associate	35656879
Dental Caries	Associate	21940522, 24810274, 39543892
Disease	Associate	34802252
Distal Myopathies	Associate	34170073
Epstein Barr Virus Infections	Associate	16448567
Genetic Diseases Inborn	Associate	32973354
Heart Diseases	Associate	25224718, 37834023
Heart Failure	Associate	32111823, 37834023, 40296161
Hypertrophy	Associate	36078153
Insulin Resistance	Associate	19833877
Muscular Diseases	Associate	34170073
Myopathy Central Core	Associate	34170073
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	25224718, 33500567
Noonan Syndrome	Associate	35656879
Paroxysmal ventricular fibrillation	Associate	25224718
Post Infectious Disorders	Associate	16448567
Squamous Cell Carcinoma of Head and Neck	Associate	32155325, 33737696, 37340028, 37371537, 38310463

ACTN2 (actinin alpha 2)