Actinin, alpha 2

Actinin, alpha 2

PDB rendering based on 1h8b.
Identifiers
Symbols ACTN2;
External IDs OMIM: 102573 MGI: 109192 HomoloGene: 31016 GeneCards: ACTN2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 88 11472
Ensembl ENSG00000077522 ENSMUSG00000052374
UniProt P35609 Q5FW75
RefSeq (mRNA) NM_001103 NM_033268.4
RefSeq (protein) NP_001094 NP_150371.4
Location (UCSC) Chr 1:
236.85 – 236.93 Mb		 Chr 13:
12.36 – 12.43 Mb
PubMed search [1] [2]

Actinin, alpha 2, also known as ACTN2, is a protein which in humans is encoded by the ACTN2 gene.[1]

Contents

Function

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. Studies have also implicated alpha actinin in the binding of cardiac ion channels, Kv1.5 in particular.[2] This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Transcript variants resulting from the use of multiple poly_A sites have been observed.[1]

Interactions

Actinin, alpha 2 has been shown to interact with KCNA5,[2][3] DLG1,[2] DISC1,[4] MYOZ1,[5] GRIN2B,[6] ADAM12,[7] ACTN3[8] and MYPN.[9]

References

  1. ^ a b "Entrez Gene: ACTN2 actinin, alpha 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=88. 
  2. ^ a b c Eldstrom, Jodene; Choi Woo Sung, Steele David F, Fedida David (Jul. 2003). "SAP97 increases Kv1.5 currents through an indirect N-terminal mechanism". FEBS Lett. (Netherlands) 547 (1-3): 205–11. doi:10.1016/S0014-5793(03)00668-9. ISSN 0014-5793. PMID 12860415. 
  3. ^ Maruoka, N D; Steele D F, Au B P, Dan P, Zhang X, Moore E D, Fedida D (May. 2000). "alpha-actinin-2 couples to cardiac Kv1.5 channels, regulating current density and channel localization in HEK cells". FEBS Lett. (NETHERLANDS) 473 (2): 188–94. doi:10.1016/S0014-5793(00)01521-0. ISSN 0014-5793. PMID 10812072. 
  4. ^ Morris, Jill A; Kandpal Geeta, Ma Lei, Austin Christopher P (Jul. 2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. (England) 12 (13): 1591–608. doi:10.1093/hmg/ddg162. ISSN 0964-6906. PMID 12812986. 
  5. ^ Faulkner, G; Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G (Dec. 2000). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". J. Biol. Chem. (UNITED STATES) 275 (52): 41234–42. doi:10.1074/jbc.M007493200. ISSN 0021-9258. PMID 10984498. 
  6. ^ Wyszynski, M; Lin J, Rao A, Nigh E, Beggs A H, Craig A M, Sheng M (Jan. 1997). "Competitive binding of alpha-actinin and calmodulin to the NMDA receptor". Nature (ENGLAND) 385 (6615): 439–42. doi:10.1038/385439a0. ISSN 0028-0836. PMID 9009191. 
  7. ^ Galliano, M F; Huet C, Frygelius J, Polgren A, Wewer U M, Engvall E (May. 2000). "Binding of ADAM12, a marker of skeletal muscle regeneration, to the muscle-specific actin-binding protein, alpha -actinin-2, is required for myoblast fusion". J. Biol. Chem. (UNITED STATES) 275 (18): 13933–9. doi:10.1074/jbc.275.18.13933. ISSN 0021-9258. PMID 10788519. 
  8. ^ Chan, Y; Tong H Q, Beggs A H, Kunkel L M (Jul. 1998). "Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo". Biochem. Biophys. Res. Commun. (UNITED STATES) 248 (1): 134–9. doi:10.1006/bbrc.1998.8920. ISSN 0006-291X. PMID 9675099. 
  9. ^ Bang, M L; Mudry R E, McElhinny A S, Trombitás K, Geach A J, Yamasaki R, Sorimachi H, Granzier H, Gregorio C C, Labeit S (Apr. 2001). "Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies". J. Cell Biol. (United States) 153 (2): 413–27. doi:10.1083/jcb.153.2.413. ISSN 0021-9525. PMC 2169455. PMID 11309420. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2169455. 

Further reading

External links

Human
A1, A2, B, C1, G1, G2
I (MYO1A, MYO1B, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H) · II (MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, MYH16) · III (MYO3A, MYO3B) · V (MYO5A, MYO5B, MYO5C) · VI (MYO6) · VII (MYO7A, MYO7B) · IX (MYO9A, MYO9B) · X (MYO10) · XV (MYO15A) · XVIII (MYO18A, MYO18B) · LC (MYL1, MYL2, MYL3, MYL4, MYL5, MYL6, MYL6B, MYL7, MYL9, MYLIP, MYLK, MYLK2, MYLL1)
Other

Tropomodulin (1, 2, 3, 4) · Troponin (T 1 2 3, C 1 2, I 1 2 3) · Tropomyosin (1, 2, 3, 4)

Actinin (1, 2, 3, 4) · Arp2/3 complex · actin depolymerizing factors (Cofilin (1, 2) · Destrin) · Gelsolin · Profilin (1, 2) · Titin
Other
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)

type I/chromosome 17 (10, 12, 13, 14, 15, 16, 17, 19, 20) · chromosome 12 (18) · none (21)

type II/chromosome 12 (1, 2A, 3, 4, 5, 6A, 6B, 7, 8, 9)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
KIF1A, KIF1B, KIF2A, KIF2C, KIF3B, KIF3C, KIF4A, KIF4B, KIF5A, KIF5B, KIF5C, KIF6, KIF7, KIF9, KIF11, KIF12, KIF13A, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF18A, KIF18B, KIF19, KIF20A, KIF20B, KIF21A, KIF21B, KIF22, KIF23, KIF24, KIF25, KIF26A, KIF26B, KIF27, KIFC1, KIFC2, KIFC3

axonemal: DNAH1, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAH10, DNAH11, DNAH12, DNAH13, DNAH14, DNAH17, DNAI1, DNAI2, DNALI1, DNAL1, DNAL4

cytoplasmic: DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI1, DYNC1LI2, DYNC2LI1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3
Other
Tau protein · Dynactin (DCTN1) · Tubulins (TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8) · Stathmin · Tektin (TEKT1, TEKT2, TEKT3, TEKT4, TEKT5) · Dynamin (DNM1, DNM2, DNM3)
Other
Nonhuman
see also cytoskeletal defects
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)