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ACTN2 Gene

protein-coding GIFtS: 68

GC01P234916

actinin, alpha 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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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

External Ids
HGNC: 164¹
Entrez Gene: 88²
UniProtKB: P35609³
Ensembl: ENSG00000077522⁷

Search outside databases for aliases for ACTN2 gene

Previous GC identifers: GC01P234982 GC01P232303 GC01P233146 GC01P233890 GC01P233175

(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, P35609

Function: F-actin cross-linking protein which is thought to anchor actin to a variety of

intracellular structures. This is a bundling protein

Gene Wiki entry for ACTN2 (Actinin%2C_alpha_2)

(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-q43

ACTN2 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

(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)
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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 Q86TI8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001094.1

ENSEMBL proteins:

ENSP00000355537

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Sarcomeric Alpha Actinin)
	Browse Abnova for 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 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	NAS	12809483
GO:0005884	actin filament	TAS	1339456
GO:0005925	focal adhesion	IMP	16807302

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Antibodies for ACTN2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ACTN2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Sarcomeric Alpha Actinin), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for ACTN2

Assays for ACTN2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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, P35609

Similarity: Belongs to the alpha-actinin family

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 2 EF-hand domains

Similarity: Contains 4 spectrin repeats

(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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACTN2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACTN2)

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

Clones:		Invitrogen Clones for ACTN2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

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, P35609

Function: F-actin cross-linking protein which is thought to anchor actin to a variety of

intracellular structures. This is a bundling protein

Genatlas 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 dystrophin

5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005178	integrin binding	TAS	8104223
GO:0005509	calcium ion binding	IEA	--
GO:0008307	structural constituent of muscle	TAS	1339456
GO:0030375	thyroid hormone receptor coactivator activity	IEA	--

About this table

(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.)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTN2 (Your Favorite Gene powered by Ingenuity)

Germ Cell-Sertoli Cell Junction Signaling
VEGF Signaling
Integrin Signaling
Leukocyte Extravasation Signaling
Actin Cytoskeleton Signaling

GeneDecks ACTN2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ACTN2

5/119 Interacting proteins for ACTN2 (ENSP00000355537³ P35609^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 119 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANG	P03950¹	STRING (score=.952) EBI-77797, EBI-525291
KCNA4	P22459²	STRING (score=.759) MINT-14873 MINT-14874
KCNA5	P22460²	STRING (score=.991) MINT-17650 MINT-17651
MYOZ1	Q9NP98²	STRING (score=.91) MINT-49879 MINT-49880
TTN	Q8WZ42¹^,²	STRING (score=.998) EBI-77797, EBI-681210 MINT-2882567 EBI-77797, EBI-681210 MINT-2882567

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	IEA	--
GO:0007155	cell adhesion	TAS	10656685
GO:0030035	microspike assembly	IDA	12356918
GO:0042981	regulation of apoptosis	NAS	16807302
GO:0048041	focal adhesion formation	IMP	16807302

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(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 drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

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)

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(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

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACTN2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACTN2)

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

(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 )
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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

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38448_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.81	M86406	1.00	1.00	1.00	1
61882_at²^{, 3}	U95-C	2	0.38	0.92	0.99	1.22	AA885146	0.80	1.00	0.91	1
203861_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AU146889	0.80	1.00	0.91	1
203864_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001103	0.60	1.00	0.82	1
203862_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	H16245	0.80	1.00	0.91	1
203863_at²^{, 3}	U133-A	1	0.46	1.00	--	--	W63731	0.60	1.00	0.82	1
203861_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203864_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203862_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203863_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--

GeneDecks ACTN2 for binary patterns associated with the probe-sets selected above

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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, P35609
Tissue specificity: Expressed in both skeletal and cardiac muscle

(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 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACTN2¹	--	actinin, alpha 2	91.87(n) 98.43(a)	479191 XM_851189.1 XP_856282.1
chimpanzee (Pan troglodytes)	ACTN2¹	--	actinin, alpha 2	97.57(n) 97.42(a)	469156 XM_001158729.1 XP_001158729.1
cow (Bos taurus)	ACTN2¹	--	actinin, alpha 2	92.54(n) 98.66(a)	536607 NM_001034635.1 NP_001029807.1
rat (Rattus norvegicus)	Actn2¹	--	actinin alpha 2	90.42(n) 99.22(a)	291245 XM_214499.4 XP_214499.4
mouse (Mus musculus)	Actn2^{1, 5}	13 (7.00 cM)⁵	actinin alpha 2^{1, 5}	90.87(n)¹ 98.66(a)¹	11472¹ NM_033268.3¹ NP_150371.3¹ AF248643⁵ AI006532⁵ (see all 11)

About this table Species with no ortholog for ACTN2

ENSEMBL Gene Tree for ACTN2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ACTN2 gene

ACTN4² ACTN1² ACTN3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/670 NCBI SNPs in ACTN2 are shown (see all 670 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 257)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs7532533^1,2	A,C,F,H	234993266(+)	`TGCCAG/CAGAGA`	1	--	ut3¹ ese³ trp³		16	EU EA WA NS NA	1078
	rs1051251^1,2	A,C,F,H	234992653(+)	`AGGGGA/GAAAAA`	1	--	ut3¹ trp³		4	EA MN WA	1904
--	rs4659700^1,2	A,C,F,H	234914891(+)	`aaacaA/Gaacaa`	1	--	ng5¹		4	EU EA WA	412
	rs7522310^1,2	A,C,F,H	234993290(+)	`TAGGTA/GAAATG`	1	--	ut3¹		8	EA NA EU WA	632
	rs819666^1,2	A,C,F,H	234915374(+)	`CCCGGC/TAGGTG`	1	--	ng5¹		4	EU EA WA	420
	rs1803032^1,2	A,C,F,H	234993068(+)	`ATGAAC/TTTAAT`	1	--	ut3¹		12	NS MN EU EA WA NA	888
	rs11801672^1,2	C,F,H	234993629(+)	`TTTTAG/ACTAGT`	1	--	ut3¹ ese³		4	EU EA WA	420
	rs2153203^1,2	C,F,H	234993496(+)	`CTCTAG/ATTTTA`	1	--	ut3¹ ese³		12	NS NA EU EA WA	666
	rs12563377^1,2	C,H	234993845(+)	`TTGTAG/AAGAAT`	1	--	ut3¹ ese³		4	EU EA WA	418
	rs35997569^1,2	C,F	234981546(+)	`TCACCA/GTGGAT`	1	M/V	mis¹		5	NA EU EA WA	492

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HapMap Linkage Disequilibrium images for ACTN2 (up to first 250kb)

(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.)
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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

death

2 Novoseek disease relationships for ACTN2 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
neuromuscular diseases	34.74	1	8887951 (1)
muscular dystrophies	34.21	1	11699871 (1)

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GeneTests: ACTN2

Dilated Cardiomyopathy

Human Gene Mutation Database: ACTN2
Human Genome Epidemiology Navigator: ACTN2 (5 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 88	HGNC: 164	AceView: ACTN2	Ensembl:ENSG00000077522	euGenes: HUgn88
ECgene: ACTN2	H-InvDB: ACTN2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=ACTN2

Licensable Technologies for ACTN2
(Available from WIS Yeda, Salk, Tufts)

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(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:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ACTN2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ACTN2		Antibodies for ACTN2
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ACTN2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Chimera RNAi (ACTN2)
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	Recombinant Proteins (Sarcomeric Alpha Actinin)
	Antibodies (Sarcomeric Alpha Actinin)

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Antibodies for ACTN2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ACTN2 Gene at Home site.
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ACTN2 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for ACTN2

Summaries
for ACTN2

Genomic Location
for ACTN2

Proteins
for ACTN2

Protein Domains/
Families
for ACTN2

Gene Function
for ACTN2

Pathways & Interactions
for ACTN2

Drugs & Compounds
for ACTN2

Transcripts
for ACTN2

Expression
for ACTN2

Orthologs
for ACTN2

Paralogs
for ACTN2

SNPs/Variants
for ACTN2

Disorders & Mutations
for ACTN2

Medical News
for ACTN2

Publications
for ACTN2

Search for ACTN2

Genome Databases showing ACTN2

Other Databases showing ACTN2

Specialized Databases showing ACTN2

Licensable Technologies
for ACTN2

Services
for ACTN2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACTN2 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor ACTN2

Summariesfor ACTN2

Genomic Locationfor ACTN2

Proteinsfor ACTN2

Protein Domains/Familiesfor ACTN2

Gene Functionfor ACTN2

Pathways & Interactionsfor ACTN2

Drugs & Compoundsfor ACTN2

Transcriptsfor ACTN2

Expression for ACTN2

Orthologsfor ACTN2

Paralogsfor ACTN2

SNPs/Variantsfor ACTN2

Disorders & Mutationsfor ACTN2

Medical Newsfor ACTN2

Publicationsfor ACTN2

Search for ACTN2

Genome Databases showing ACTN2

Other Databases showing ACTN2

Specialized Databases showing ACTN2

Licensable Technologiesfor ACTN2

Servicesfor ACTN2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ACTN2

Summaries
for ACTN2

Genomic Location
for ACTN2

Proteins
for ACTN2

Protein Domains/
Families
for ACTN2

Gene Function
for ACTN2

Pathways & Interactions
for ACTN2

Drugs & Compounds
for ACTN2

Transcripts
for ACTN2

Expression
for ACTN2

Orthologs
for ACTN2

Paralogs
for ACTN2

SNPs/Variants
for ACTN2

Disorders & Mutations
for ACTN2

Medical News
for ACTN2

Publications
for ACTN2

Licensable Technologies
for ACTN2

Services
for ACTN2