1. Gene
  2. ACTN2 - actinin alpha 2 Gene

ACTN2 - actinin alpha 2 Gene

Homo sapiens

Also known as MPD6; CMH23; CMD1AA; MYOCOZ

Gene ID: 88 | Gene type: protein coding

About ACTN2

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:236,686,499-236,764,631 (from NCBI)

This gene has 25 transcripts (splice variants), 233 orthologues, 36 paralogues and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 342.0).

Summary

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 muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

ACTN2 Products(8)

mRNA Protein Name
NM_001103.4 NP_001094.1 alpha-actinin-2 isoform 1
NM_001278343.2 NP_001265272.1 alpha-actinin-2 isoform 2
NM_001278344.2 NP_001265273.1 alpha-actinin-2 isoform 3
NM_001412150.1 NP_001399079.1 alpha-actinin-2 isoform 4
NM_001103.4 NP_001094.1 alpha-actinin-2 isoform 1
NM_001278343.2 NP_001265272.1 alpha-actinin-2 isoform 2
NM_001278344.2 NP_001265273.1 alpha-actinin-2 isoform 3
NM_001412150.1 NP_001399079.1 alpha-actinin-2 isoform 4
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables FATZ binding IDA
IDA: Inferred from direct assay
11699871 GOA
enables cytoskeletal protein binding IDA
IDA: Inferred from direct assay
10427098 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
9501083 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: Inferred from direct assay
25433700 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9501083 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
19815520 GOA
enables titin Z domain binding IMP
IMP: Inferred from mutant phenotype
25433700 GOA
enables titin Z domain binding IPI
IPI: Inferred from physical interaction
11846417 GOA
enables titin binding IPI
IPI: Inferred from physical interaction
9501083 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
10812072 GOA
Biological Process GO Annotation Evidence Reference Source
involved in actin filament uncapping IMP
IMP: Inferred from mutant phenotype
25433700 GOA
involved in focal adhesion assembly IMP
IMP: Inferred from mutant phenotype
16807302 GOA
involved in microspike assembly IDA
IDA: Inferred from direct assay
12356918 GOA
involved in negative regulation of potassium ion transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
10812072 GOA
involved in negative regulation of potassium ion transport IMP
IMP: Inferred from mutant phenotype
10812072 GOA
involved in negative regulation of protein localization to cell surface IMP
IMP: Inferred from mutant phenotype
10812072 GOA
involved in phospholipase C-activating angiotensin-activated signaling pathway IMP
IMP: Inferred from mutant phenotype
25433700 GOA
involved in positive regulation of cation channel activity IMP
IMP: Inferred from mutant phenotype
19815520 GOA
involved in positive regulation of endocytic recycling IMP
IMP: Inferred from mutant phenotype
19815520 GOA
involved in positive regulation of potassium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
17110593 GOA
involved in positive regulation of potassium ion transport IDA
IDA: Inferred from direct assay
17110593 GOA
involved in protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
19815520 GOA
involved in regulation of membrane potential IMP
IMP: Inferred from mutant phenotype
10812072 GOA
involved in sarcomere organization IMP
IMP: Inferred from mutant phenotype
25433700 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Z disc IDA
IDA: Inferred from direct assay
19932097 GOA
located in filopodium IDA
IDA: Inferred from direct assay
12356918 GOA
located in focal adhesion IMP
IMP: Inferred from mutant phenotype
16807302 GOA
colocalizes with plasma membrane IDA
IDA: Inferred from direct assay
19815520 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTN2 Protein Structure

CH

CH: Calponin homology (CH) domain (42 - 141)

CH

CH: Calponin homology (CH) domain (155 - 256)

Spectrin

Spectrin: Spectrin repeat (282 - 390)

Spectrin

Spectrin: Spectrin repeat (401 - 505)

Spectrin

Spectrin: Spectrin repeat (517 - 627)

Spectrin

Spectrin: Spectrin repeat (638 - 739)

EF-hand_8

EF-hand_8: EF-hand domain pair (769 - 820)

EFhand_Ca_insen

EFhand_Ca_insen: Ca2+ insensitive EF hand (824 - 890)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 894 a.a.
Protein Preferred Names Protein Names

alpha-actinin-2

F-actin cross-linking protein

ACTN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ACTN2 P35609 ATP5MC1 Homo sapiens P05496 25910212
Intra
ACTN2 P35609 ATP5MC1 Homo sapiens P05496 25910212
Intra
ACTN2 P35609 ATP5MC1 Homo sapiens P05496 25910212
Intra
ACTN2 P35609 CRABP2 Homo sapiens P29373 25910212
Intra
ACTN2 P35609 CRABP2 Homo sapiens P29373 25910212
Intra
ACTN2 P35609 CRABP2 Homo sapiens P29373 25910212
Intra
ACTN2 P35609 RTP5 Homo sapiens Q14D33 32296183
Intra
ACTN2 P35609 RTP5 Homo sapiens Q14D33 25416956
Intra
ACTN2 P35609 KATNAL2 Homo sapiens Q8IYT4 25910212
Intra
ACTN2 P35609 KATNAL2 Homo sapiens Q8IYT4 25910212
Intra
ACTN2 P35609 KATNAL2 Homo sapiens Q8IYT4 25910212
Intra
ACTN2 P35609 SNAI1 Homo sapiens O95863 25416956
Intra
ACTN2 P35609 SNAI1 Homo sapiens O95863 25416956
Intra
ACTN2 P35609 ZC2HC1C Homo sapiens J3KMY6 25910212
Intra
ACTN2 P35609 ZC2HC1C Homo sapiens J3KMY6 25910212
Intra
ACTN2 P35609 ZC2HC1C Homo sapiens J3KMY6 25910212
Intra
ACTN2 P35609 SYNPO2L Homo sapiens Q9H987-2 32296183
Intra
ACTN2 P35609 ANGPTL7 Homo sapiens O43827 25910212
Intra
ACTN2 P35609 ANGPTL7 Homo sapiens O43827 25910212
Intra
ACTN2 P35609 ANGPTL7 Homo sapiens O43827 25910212
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5-2 25910212
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5-2 25910212
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5-2 25910212
Intra
ACTN2 P35609 CLEC4D Homo sapiens Q8WXI8 25910212
Intra
ACTN2 P35609 CLEC4D Homo sapiens Q8WXI8 25910212
Intra
ACTN2 P35609 CLEC4D Homo sapiens Q8WXI8 25910212
Intra
ACTN2 P35609 SPA17 Homo sapiens Q15506 25910212
Intra
ACTN2 P35609 SPA17 Homo sapiens Q15506 25910212
Intra
ACTN2 P35609 SPA17 Homo sapiens Q15506 25910212
Intra
ACTN2 P35609 MGC50722 Homo sapiens Q8IVT4 32296183
Intra
ACTN2 P35609 ZC2HC1C Homo sapiens Q53FD0-2 32296183
Intra
ACTN2 P35609 MICALL2 Homo sapiens Q8IY33 32296183
Intra
ACTN2 P35609 MICALL2 Homo sapiens Q8IY33 25416956
Intra
ACTN2 P35609 MICALL2 Homo sapiens Q8IY33 25416956
Intra
ACTN2 P35609 DYNLT2B Homo sapiens Q8WW35 25910212
Intra
ACTN2 P35609 DYNLT2B Homo sapiens Q8WW35 25910212
Intra
ACTN2 P35609 DYNLT2B Homo sapiens Q8WW35 25910212
Intra
ACTN2 P35609 RACK1 Homo sapiens P63244 25910212
Intra
ACTN2 P35609 RACK1 Homo sapiens P63244 25910212
Intra
ACTN2 P35609 RACK1 Homo sapiens P63244 25910212
Intra
ACTN2 P35609 H4C16 Homo sapiens P62805 25910212
Intra
ACTN2 P35609 H4C16 Homo sapiens P62805 25910212
Intra
ACTN2 P35609 H4C16 Homo sapiens P62805 25910212
Intra
ACTN2 P35609 QARS1 Homo sapiens P47897 25910212
Intra
ACTN2 P35609 QARS1 Homo sapiens P47897 25910212
Intra
ACTN2 P35609 QARS1 Homo sapiens P47897 25910212
Intra
ACTN2 P35609 SRP9 Homo sapiens P49458 25910212
Intra
ACTN2 P35609 SRP9 Homo sapiens P49458 25910212
Intra
ACTN2 P35609 SRP9 Homo sapiens P49458 25910212
Intra
ACTN2 P35609 ACTN1 Homo sapiens P12814 25910212
Intra
ACTN2 P35609 ACTN1 Homo sapiens P12814 25910212
Intra
ACTN2 P35609 ACTN1 Homo sapiens P12814 25910212
Intra
ACTN2 P35609 PPP1CB Homo sapiens P62140 25910212
Intra
ACTN2 P35609 PPP1CB Homo sapiens P62140 25910212
Intra
ACTN2 P35609 PPP1CB Homo sapiens P62140 25910212
Intra
ACTN2 P35609 NKAPD1 Homo sapiens Q6ZUT1 32296183
Intra
ACTN2 P35609 SAXO1 Homo sapiens Q8IYX7 25910212
Intra
ACTN2 P35609 SAXO1 Homo sapiens Q8IYX7 25910212
Intra
ACTN2 P35609 SAXO1 Homo sapiens Q8IYX7 25910212
Intra
ACTN2 P35609 SAXO1 Homo sapiens Q8IYX7 25416956
Intra
ACTN2 P35609 GOLGA7 Homo sapiens Q7Z5G4 25910212
Intra
ACTN2 P35609 GOLGA7 Homo sapiens Q7Z5G4 25910212
Intra
ACTN2 P35609 GOLGA7 Homo sapiens Q7Z5G4 25910212
Intra
ACTN2 P35609 CRADD Homo sapiens P78560 25910212
Intra
ACTN2 P35609 CRADD Homo sapiens P78560 25910212
Intra
ACTN2 P35609 CRADD Homo sapiens P78560 25910212
Intra
ACTN2 P35609 CD27 Homo sapiens P26842 25910212
Intra
ACTN2 P35609 CD27 Homo sapiens P26842 25910212
Intra
ACTN2 P35609 CD27 Homo sapiens P26842 25910212
Intra
ACTN2 P35609 ANG Homo sapiens P03950 15737636
Intra
ACTN2 P35609 ANG Homo sapiens P03950
Y2H
15737636
Intra
ACTN2 P35609 ANG Homo sapiens P03950 15737636
Intra
ACTN2 P35609 DISC1 Homo sapiens Q9NRI5 12812986
Intra
ACTN2 P35609 DISC1 Homo sapiens Q9NRI5
Y2H
12812986
Intra
ACTN2 P35609 CSRP3 Homo sapiens P50461 15205937
Intra
ACTN2 P35609 CSRP3 Homo sapiens P50461 15205937
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5 31515488
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5 23414517
Intra
ACTN2 P35609 PDLIM3 Homo sapiens Q53GG5 25416956
Intra
ACTN2 P35609 NRAP Homo sapiens Q86VF7 15205937
Intra
ACTN2 P35609 NRAP Homo sapiens Q86VF7 15205937
Intra
ACTN2 P35609 BRMS1L Homo sapiens Q5PSV4 25416956
Intra
ACTN2 P35609 BRMS1L Homo sapiens Q5PSV4 32296183
Intra
ACTN2 P35609 BRMS1L Homo sapiens Q5PSV4 25416956
Intra
ACTN2 P35609 KCNA5 Homo sapiens P22460 11389904
Intra
ACTN2 P35609 KCNA5 Homo sapiens P22460 10812072
Intra
ACTN2 P35609 KCNA5 Homo sapiens P22460
Y2H
11389904
Intra
ACTN2 P35609 KCNA5 Homo sapiens P22460
Y2H
10812072
Intra
ACTN2 P35609 SP100 Homo sapiens P23497-2 25910212
Intra
ACTN2 P35609 SP100 Homo sapiens P23497-2 25910212
Intra
ACTN2 P35609 SP100 Homo sapiens P23497-2 25910212
Intra
ACTN2 P35609 GATA3 Homo sapiens P23771 25910212
Intra
ACTN2 P35609 GATA3 Homo sapiens P23771 25910212
Intra
ACTN2 P35609 GATA3 Homo sapiens P23771 25910212
Intra
ACTN2 P35609 TTN Homo sapiens Q8WZ42
ITC
11101506
Intra
ACTN2 P35609 TTN Homo sapiens Q8WZ42
Y2H
11101506
Intra
ACTN2 P35609 TTN Homo sapiens Q8WZ42 11101506
Intra
ACTN2 P35609 TTN Homo sapiens Q8WZ42
Y2H
9501083
Intra
ACTN2 P35609 TTN Homo sapiens Q8WZ42 9501083
Intra
ACTN2 P35609 BAD Homo sapiens Q92934 32296183
Intra
ACTN2 P35609 MRPL10 Homo sapiens Q7Z7H8 25910212
Intra
ACTN2 P35609 MRPL10 Homo sapiens Q7Z7H8 25910212
Intra
ACTN2 P35609 MRPL10 Homo sapiens Q7Z7H8 25910212
Intra
ACTN2 P35609 CNNM3 Homo sapiens Q8NE01 32296183
Intra
ACTN2 P35609 NTAQ1 Homo sapiens Q96HA8 32296183
Intra
ACTN2 P35609 ZNRD2 Homo sapiens O60232 25910212
Intra
ACTN2 P35609 ZNRD2 Homo sapiens O60232 25910212
Intra
ACTN2 P35609 ZNRD2 Homo sapiens O60232 25910212
Intra
ACTN2 P35609 FAM50B Homo sapiens Q9Y247 25910212
Intra
ACTN2 P35609 FAM50B Homo sapiens Q9Y247 25910212
Intra
ACTN2 P35609 FAM50B Homo sapiens Q9Y247 25910212
Intra
ACTN2 P35609 TOLLIP Homo sapiens Q9H0E2 25910212
Intra
ACTN2 P35609 TOLLIP Homo sapiens Q9H0E2 25910212
Intra
ACTN2 P35609 TOLLIP Homo sapiens Q9H0E2 25910212
Intra
ACTN2 P35609 MYOZ2 Homo sapiens Q9NPC6 25416956
Intra
ACTN2 P35609 MYOZ2 Homo sapiens Q9NPC6 25416956
Intra
ACTN2 P35609 MYOZ2 Homo sapiens Q9NPC6 25910212
Intra
ACTN2 P35609 MYOZ2 Homo sapiens Q9NPC6 25910212
Intra
ACTN2 P35609 MYOZ2 Homo sapiens Q9NPC6 25910212
Intra
ACTN2 P35609 SP100 Homo sapiens P23497 25416956
Cross
ACTN2 P35609 Adam12 Mus musculus Q61824
Y2H
10788519
Cross
ACTN2 P35609 Adam12 Mus musculus Q61824 10788519
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609 11101506
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609 25416956
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609 25502805
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609
ITC
11101506
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609
Y2H
11101506
Intra
ACTN2 P35609 ACTN2 Homo sapiens P35609 31515488
Intra
ACTN2 P35609 GSTT1 Homo sapiens P30711 25910212
Intra
ACTN2 P35609 GSTT1 Homo sapiens P30711 25910212
Intra
ACTN2 P35609 GSTT1 Homo sapiens P30711 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

ACTN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82158 Sarcomeric alpha Actinin Antibody (YA1903) WB, IHC-P, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction

CMD1AA

Dilated Cardiomyopathy 1aa

Cardiomyopathy, Dilated, 1aa, With Or Without Lvnc

Cardiomyopathy, Hypertrophic, 23, With Or Without Lvnc

Cardiomyopathy, Dilated, 1aa

Dilated Cardiomyopathy 1aa With Or Without Left Ventricular Noncompaction

Cardiomyopathy, Dilated 1aa, With Or Without Left Ventricular Non-Compaction

Cardiomyopathy, Familial Hypertrophic 23, With Or Without Left Ventricular Non-Compaction

CMH23

Cardiomyopathy, Familial Hypertrophic 23, With Or Without Lvnc

Cardiomyopathy, Dilated, Type 1aa

Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities

MYOCOZ

Multiple Structured Core Disease

Mscd

Myopathy, Congenital With Structured Cores And Z-Line Abnormalities

Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

MPD6

Myopathy, Distal, 6, Adult Onset

Myopathy, Distal, 6, Adult Onset, Autosomal Dominant

Myopathy, Distal, Type 6, Adult Onset

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4

CMH4

Cardiomyopathy, Hypertrophic, 4

Cardiomyopathy, Familial Hypertrophic 4

Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To

Cardiomyopathy, Hypertrophic, Familial, Type 4

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Intrinsic Cardiomyopathy
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ACTN2 VGNC VGNC:59552
Rattus norvegicus ACTN2 RGD RGD:1308097
Macaca mulatta ACTN2 VGNC VGNC:69425
Canis familiaris ACTN2 VGNC VGNC:37549
Bos taurus ACTN2 VGNC VGNC:25582
Mus musculus ACTN2 MGD MGI:109192