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Aliases & Descriptions for ACTN2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMD1AA 2, 5 | | OTTHUMP00000037963 2 |
| | | Descriptions |
|---|
| Alpha-actinin skeletal muscle isoform 2 3 | | F-actin cross-linking protein 2, 3 | | actinin, alpha 2 2 | | alpha-actinin skeletal muscle 2 |
|
| | Search outside databases for aliases for ACTN2 genePrevious GC identifers: GC01P234982 GC01P232303 GC01P233146 GC01P233890 GC01P233175 |
Summaries for ACTN2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ACTN2: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling proteinGene Wiki entry for ACTN2 (Actinin%2C_alpha_2) |
Genomic Location for ACTN2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ACTN2 gene 
Entrez Gene cytogenetic band: 1q42-q43 Ensembl cytogenetic band: 1q43 HGNC cytogenetic band: 1q42-q43ACTN2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P234916:
(about GC identifiers)
Start:
|
234,916,422 bp from pter |
End:
|
234,993,863 bp from pter |
Size:
|
77,442 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004836.17
| Proteins for ACTN2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609 (See
protein sequence)Recommended Name: Alpha-actinin-2 Size: 894 amino acids; 103854 Da
Subunit: Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2
Subcellular location: Cytoplasm, myofibril, sarcomere, Z-disk. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle
PDB structures from and Proteopedia :1H8B (3D)
 1HCI (3D)
 1QUU (3D)
 
Secondary accessions: Q86TF4 Q86TI8Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001094.1
ENSEMBL proteins: ENSP00000355537
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9
): About this table
Antibodies for ACTN2: Assays for ACTN2: | Protein
Domains/ Families for ACTN2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P35609
ProtoNet protein and cluster: P35609 3 Blocks protein families: IPB001589 Actin-binding IPB001715 Calponin-like actin-binding IPB002017 Spectrin repeat
UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609Similarity: Belongs to the alpha-actinin familySimilarity: Contains 1 actin-binding domainSimilarity: Contains 2 CH (calponin-homology) domainsSimilarity: Contains 2 EF-hand domainsSimilarity: Contains 4 spectrin repeats | Gene Function for ACTN2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001103
Applied Biosystems Silencer® siRNAs for ACTN2
Sigma-Aldrich siRNA for ACTN2  Sigma-Aldrich shRNA Panels and shRNA for ACTN2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001103                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001103                                  untagged cDNA clone in CMV expression vector: NM_001103 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001103
UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling proteinGenatlas biochemistry entry for ACTN2:actinin,alpha 2,actin filament cross-linking,calcium insensitive,expressed in skeletal and cardiac muscle,interacting with actin and the carboxyterminal region of dystrophin5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11
): About this table | Pathways & Interactions for ACTN2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTN2 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for ACTN2 
5/119 Interacting proteins for ACTN2 (ENSP000003555373 P356091, 2) via UniProtKB, MINT, and/or STRING (see all 119
)About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): About this table
|
Drugs & Compounds for ACTN2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ACTN2 1 Novoseek chemical compound relationship for ACTN2 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| calcium |
7.71 |
3 |
1339456 (1), 18287503 (1) |
About this table
|
Transcripts for ACTN2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001103
Sigma-Aldrich siRNA for ACTN2  Sigma-Aldrich shRNA Panels and shRNA for ACTN2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001103 REFSEQ mRNAs for ACTN2 gene: NM_001103.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001103               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001103                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001103                                  untagged cDNA clone in CMV expression vector: NM_001103  Additional cDNA sequence: AB209521.1 AK294906.1 AK297469.1 AK297618.1 AK297628.1 AK297886.1 AK315250.1 BC047901.2 BC051770.1 CR593118.1 M86406.1 16 DOTS entries: DT.118315 DT.100789449 DT.410595 DT.95258860 DT.121411999 DT.100789446 DT.100789450 DT.75146933 DT.100789445 DT.121411996 DT.121412007 DT.100680261 DT.102830077 DT.121412003 DT.121412018 DT.92028142 24/202 AceView cDNA sequences (see all 202
):BC051770 AA346088 CR593118 CF552175 AA775521 AI399752 F26846 N88024 AI305188 BQ002816 BC047901 AA346225 AA968547 AI982935 F30704 N91925 CB153006 BM721312 AI400613 N85561 AI004936 AA582234 BX477914 AI588922
highest scoring ESTs for ACTN2:M86406 AA086315 AA192924 AA214015 AA235909 AA346088 AA347173 AA347854 AA348515 AA478836 Unigene Cluster for ACTN2: Actinin, alpha 2 Hs.498178 [show with all ESTs]Unigene Representative Sequence: NM_001103
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ACTN2 (see all 8
)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · | |
| SP1: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 20c | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | · | 24c | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ACTN2
1 Ensembl transcript including schematic representation: ENST00000366578
|
Expression for ACTN2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ACTN2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ACTN2
1 / 2 / 3 10 probe-sets matching ACTN2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ACTAGAGAGA
SOURCE GeneReport for Unigene cluster: Hs.498178
Expression variation in blood from EXPOLDB for ACTN2 UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609Tissue specificity: Expressed in both skeletal and cardiac muscle |
Orthologs for ACTN2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ACTN2 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for ACTN2
ENSEMBL Gene Tree for ACTN2 | Paralogs for ACTN2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ACTN2 gene
- ACTN42 ACTN12 ACTN32
|
SNPs/Variants for ACTN2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ACTN2 (up to first 250kb)
|
Disorders & Mutations for ACTN2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 102573 disorders: 612158 UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609
Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death2 Novoseek disease relationships for ACTN2 gene
About this table
GeneTests: ACTN2 Dilated Cardiomyopathy Human Gene Mutation Database: ACTN2 Human Genome Epidemiology Navigator: ACTN2 (5 documents)
|
Medical News for ACTN2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ACTN2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/91 PubMed articles for ACTN2 gene (see all 91
):- Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PubMed id 1339456)1, 2, 3, 4 Beggs A.H....Kunkel L.M. (1992)
- Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. (PubMed id 10548523)1, 3, 4 Tiso N....Danieli G.A. (1999)
- ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098)1, 3, 4 Faulkner G.... Lanfranchi G. (1999)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)3, 4 Frey N. and Olson E.N. (2002)
- Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PubMed id 11171996)3, 4 Takada F.... Beggs A.H. (2001)
- FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. (PubMed id 10984498)3, 4 Faulkner G....Lanfranchi G. (2000)
- Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)3, 4 Frey N.... Olson E.N. (2000)
- Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. (PubMed id 19150855)1, 3 Norman B....Tesch P.A. (2009)
- Differential expression of the actin-binding proteins, alpha-actinin- 2 and -3, in different species: implications for the evolution of functional redundancy. (PubMed id 11440986)1, 3 Mills M.... North K.N. (2001)
|
Search for ACTN2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ACTN2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ACTN2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACTN2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=ACTN2 |
|
| | | About This Section
| --
| Services for ACTN2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ACTN2:

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Incremental update: 13 Oct 2009
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