ACTN2 - actinin alpha 2 Gene
Also Known as MPD6; CMH23; CMD1AA; MYOCOZ
Species: Homo sapiens
About ACTN2
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 |
| Molecular Function GO Annotation | Evidence | References | 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 |
| Cellular Component GO Annotation | Evidence | References | 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 |
ACTN2 Protein Structure
CH: Calponin homology (CH) domain (42 - 141)
CH: Calponin homology (CH) domain (155 - 256)
Spectrin: Spectrin repeat (282 - 390)
Spectrin: Spectrin repeat (401 - 505)
Spectrin: Spectrin repeat (517 - 627)
Spectrin: Spectrin repeat (638 - 739)
EF-hand_8: EF-hand domain pair (769 - 820)
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 |
|
ACTN2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
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 | 15737636 | |
|
Intra
|
ACTN2 | P35609 | ANG | Homo sapiens | P03950 | 15737636 | |
|
Intra
|
ACTN2 | P35609 | DISC1 | Homo sapiens | Q9NRI5 | 12812986 | |
|
Intra
|
ACTN2 | P35609 | DISC1 | Homo sapiens | Q9NRI5 | 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 | 11389904 | |
|
Intra
|
ACTN2 | P35609 | KCNA5 | Homo sapiens | P22460 | 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 | 11101506 | |
|
Intra
|
ACTN2 | P35609 | TTN | Homo sapiens | Q8WZ42 | 11101506 | |
|
Intra
|
ACTN2 | P35609 | TTN | Homo sapiens | Q8WZ42 | 11101506 | |
|
Intra
|
ACTN2 | P35609 | TTN | Homo sapiens | Q8WZ42 | 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 | 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 | 11101506 | |
|
Intra
|
ACTN2 | P35609 | ACTN2 | Homo sapiens | P35609 | 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 |
ACTN2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82158 | Sarcomeric alpha Actinin Antibody (YA1903) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P82158A | Sarcomeric alpha Actinin Antibody (YA1903)(PBS only) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P85415 | Sarcomeric alpha Actinin Antibody (YA5107) | WB, ICC/IF | Human, Rat, Bovine, Chicken, Dog, Pig, Zebrafish |
| HY-P86079 | Sarcomeric alpha Actinin Antibody (YA5771) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction |
|
|
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
|
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Endocardial Fibroelastosis |
|
|
| Myopathy, Myofibrillar, 4 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
|
| Myopathy |
|
|
| Muscular Dystrophy |
|
|
| Dental Caries |
|
|
| Neuromuscular Disease |
|
|
| Myopathy, Spheroid Body |
|
|
| Left Ventricular Noncompaction |
|
|
| Myofibrillar Myopathy |
|
|
| Restrictive Cardiomyopathy |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Brugada Syndrome |
|
|
| Long Qt Syndrome 1 |
|
|
| Rasopathy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
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 |
| Others | ACTN2 | NCBI |