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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACTN2 Gene

protein-coding GIFtS: 67
GCID: GC01P236849

actinin, alpha 2

Explore 25 diseases affiliated with
ACTN2 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Actinin, Alpha 2¹ ²
F-Actin Cross-Linking Protein² ³
CMD1AA² ⁵
Alpha-Actinin Skeletal Muscle²
Alpha-Actinin-2¹
Alpha-Actinin Skeletal Muscle Isoform 2³

External Ids:	HGNC: 164¹	Entrez Gene: 88²	Ensembl: ENSG00000077522⁷	OMIM: 102573⁵	UniProtKB: P35609³

Export aliases for ACTN2 gene to outside databases

Previous GC identifers: GC01P234982 GC01P232303 GC01P233146 GC01P233890 GC01P233175 GC01P234916 GC01P207337

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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, Jul 2008)

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, alpha 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACTN2 gene promoter:
AhR TBP SRF SRF (504 AA) ATF-2 Nkx2-5 CRE-BP1 IRF-2 STAT3 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACTN2 promoter sequence

Search SABiosciences Chromatin IP Primers for ACTN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
ACTN2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P236849: view genomic region (about GC identifiers)

Start:	236,849,754 bp from pter	End:	236,927,931 bp from pter
Size:	78,178 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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. Interacts with DST isoform 1 (via

N-terminus). Interacts with PARVB

Subcellular location: Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of

skeletal muscle

3 PDB 3D structures from and Proteopedia for ACTN2:

1H8B (3D)

1HCI (3D)

1QUU (3D)

Secondary accessions: B1ANE4 Q86TF4 Q86TI8

Explore the universe of human proteins at neXtProt for ACTN2: NX_P35609

Post-translational modifications:

Ubiquitinated by FBXL22, leading to proteasomal degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35609

ACTN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001094.1

ENSEMBL proteins:

ENSP00000355537 ENSP00000443495 ENSP00000438384

Reactome Protein details: P35609
Human Recombinant Protein Products:

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	Uscn Proteins for ACTN2

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	NAS	12809483
GO:0005884	actin filament	TAS	1339456
GO:0005925	focal adhesion	IMP	16807302

ACTN2 for ontologies About GeneDecksing

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

ACTN2 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR014837 EF-hand_Ca_insen

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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		hsa-miR-3128 hsa-miR-3164 hsa-miR-100* hsa-miR-137 hsa-miR-4267 hsa-miR-9 hsa-miR-4330 hsa-miR-205*

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN2

Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	--	--
GO:0005178	integrin binding	TAS	8104223
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	11309420
GO:0008092	cytoskeletal protein binding	IDA	10427098

ACTN2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ACTN2:

Cell division defect

Decreased viability of wild-ty

Increased G2M DNA content, inc

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility	0.32
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility	0.32
Cytoskeleton remodeling_Integrin outside-in signaling	0.37	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms	0.21
Cytoskeleton remodeling Integrin outside-in signaling	0.37	Cell adhesion Endothelial cell contacts by non-junctional mechanisms	0.21

CREB phosphorylation through the activation of CaMKII

	CREB phosphorylation through the activation of CaMKII	1.00			Unblocking of NMDA receptor, glutamate binding and activation	0.68
	Ras activation uopn Ca2+ infux through NMDA receptor	0.78

Post NMDA receptor activation events

	Post NMDA receptor activation events	1.00			CREB phosphorylation through the activation of Ras	0.82
	Activation of NMDA receptor upon glutamate binding and postsynaptic events	0.89

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Sertoli-Sertoli Cell Junction Dynamics

	Sertoli-Sertoli Cell Junction Dynamics	1.00			Epithelial Tight Junctions	0.36
	Germ Cell-Sertoli Cell Junction Dynamics	0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for ACTN2

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Integrin outside-in signaling
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cell adhesion Endothelial cell contacts by non-junctional mechanisms

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTN2 (see all 6)

	Sertoli-Sertoli Cell Junction Dynamics
	ILK Signaling
	Remodeling of Adherens Junctions
	Epithelial Tight Junctions
	Germ Cell-Sertoli Cell Junction Dynamics

5/6 GeneGo (Thomson Reuters) Pathways for ACTN2 (see all 6)

	Cell adhesion Endothelial cell contacts by non-junctional mechanisms
	Cytoskeleton remodeling Integrin outside-in signaling
	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Inhibitory action of Lipoxins on neutrophil migration

2 BioSystems Pathways for ACTN2

	Arrhythmogenic right ventricular cardiomyopathy
	Striated Muscle Contraction

5/17 Reactome Pathways for ACTN2 (see all 17)

	Ras activation uopn Ca2+ infux through NMDA receptor
	Hemostasis
	Nephrin interactions
	Unblocking of NMDA receptor, glutamate binding and activation
	CREB phosphorylation through the activation of CaMKII

5/8 Kegg Pathways (Kegg details for ACTN2) (see all 8):

	Focal adhesion
	Adherens junction
	Tight junction
	Leukocyte transendothelial migration
	Regulation of actin cytoskeleton

ACTN2 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/280 Interacting proteins for ACTN2 (P35609^{1, 2, 3} ENSP00000355537⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 280)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TTN	Q8WZ42¹^,²^,³	EBI-928705,EBI-3448943 MINT-2882567 MINT-7899812 I2D: score=2
MYOZ1	Q9NP98²^,³, ENSP00000352272⁴	MINT-49879 MINT-49880 I2D: score=4 STRING: ENSP00000352272
ATXN2	Q99700²^,³, ENSP00000366843⁴	MINT-2856709 MINT-2856690 I2D: score=3 STRING: ENSP00000366843
KCNA5	P22460²^,³, ENSP00000252321⁴	MINT-17650 MINT-17651 I2D: score=3 STRING: ENSP00000252321
KCNA4	P22459²^,³, ENSP00000328511⁴	MINT-14873 MINT-14874 I2D: score=2 STRING: ENSP00000328511

About this table

Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0006936	muscle contraction	--	--
GO:0007155	cell adhesion	TAS	10656685
GO:0007268	synaptic transmission	TAS	--
GO:0007596	blood coagulation	TAS	--

ACTN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACTN2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACTN2
3 Novoseek chemical compound relationships for ACTN2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nmda	52.1	10	16510730 (4), 9454832 (1), 9502803 (1), 10812072 (1)
glutamate	25.8	1	10786995 (1)
calcium	5.38	3	1339456 (1), 18287503 (1)

Search CenterWatch for drugs/clinical trials and news about ACTN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACTN2 gene:

NM_001103.2

Unigene Cluster for ACTN2:

Actinin, alpha 2

Hs.498178 [show with all ESTs]

Unigene Representative Sequence: NM_001103

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000366578(uc001hyf.2 uc001hyg.2 uc009xgi.1 uc010pxu.1)

ENST00000492634 ENST00000494762 ENST00000492101 ENST00000461367 ENST00000542672

ENST00000546208

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Additional cDNA sequence:

AB209521.1 AK294906.1 AK297469.1 AK297618.1 AK297628.1 AK297886.1 AK315250.1 BC047901.2

BC051770.1 M86406.1

15 DOTS entries:

DT.118315 DT.100789449 DT.410595 DT.95258860 DT.100789450 DT.75146933 DT.100789445 DT.121411996

DT.121411999 DT.121412007 DT.100680261 DT.102830077 DT.121412003 DT.121412018 DT.100789446

24/202 AceView cDNA sequences (see all 202):

AI305188 BC051770 BX103017 AA346088 BC047901 CR593118 AI588922 AA968547

C03956 F30704 AI914401 AI399752 AA775521 AA346225 N91925 N88024

N85561 AI400613 F26846 CF552175 AA582234 AI982935 AA347854 AJ707536

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ACTN2 (see all 8) About this scheme

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:

ECgene alternative splicing isoforms for ACTN2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACTN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTAGAGAGA

About this image

ACTN2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Myocardium

Skeletal Muscle

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

Cardiomyocyte-like cells (Derivation of cardio...)

Cardiomyocytes-like cells (Promotion of cardiom...)

Beating embryoid bodies (Cardiac differentiat...)

Skeletal myocytes (Generation of skelet...)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

See ACTN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTN2

SOURCE GeneReport for Unigene cluster: Hs.498178

UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609

Tissue specificity: Expressed in both skeletal and cardiac muscle

SABiosciences Expression via Pathway-Focused PCR Arrays including ACTN2:

Adherens Junctions in human mouse rat

Tight Junctions in human mouse rat

Focal Adhesions in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ACTN2 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACTN2¹	actinin, alpha 2	82.81(n) 95.19(a)		396263 NM_205323.1 NP_990654.1
lizard (Anolis carolinensis)	Reptilia	ACTN2⁶	--	86(a)	1 ↔ 1	1(218840337-218915069)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.15742²	Transcribed sequence with moderate similarity to protein more	79.96(n)		BX703558.1
zebrafish (Danio rerio)	Actinopterygii	actn2¹	actinin, alpha 2	76.14(n) 85.01(a)		641575 NM_001037573.1 NP_001032662.1
fruit fly (Drosophila melanogaster)	Insecta	Actn³	cytoskeletal anchoring actin binding	66(a)		--
worm (Caenorhabditis elegans)	Secernentea	atn-1⁶	AcTiniN family member (atn-1)	60(a)	1 → many	V(12478394-12484433)

ENSEMBL Gene Tree for ACTN2 (if available)
TreeFam Gene Tree for ACTN2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACTN2 gene

ACTN4² SPTBN2² SPTA1² SYNE2² SPTBN4² SPTBN1² SPTB² SPTBN5²

SPTAN1² ACTN1² SYNE1² CLMN²

18 SIMAP similar genes for ACTN2 using alignment to 3 protein entries: ACTN2_HUMAN (see all proteins):

ACTN3 ACTN4 ACTN1 MACF1 UTRN HSpTB1

DMD CALML3 CALM3 ACF7 CALM1 CALM2

SPTBN1 SPNB4 SPTBN2 SPTBN4 SPTB SYNE2

ACTN2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34975493^1,2	C,F,	non-pathogenic	236918483(+)	`CACACG/AAACTA`	2	/T	syn¹		7		NA WA EU	5989
rs121434525^1,2	C,F,	pathogenic	236849999(+)	`CGTGCA/GGTACA`	2	Q R	mis¹		2		NA EU	5635
rs193922634^1,2	C,	probable-non-pathogenic	236881196(+)	`AAAGCC/TGGCAC`	2	A	syn¹		0	--	--	--	--
rs193922635^1,2	C	probable-pathogenic	236918491(+)	`CTACAC/TGATGG`	2	T M	mis¹		0	--	--	--	--
rs78062431^1,2		--	236847871(+)	`TGTGCG/AGTGGA`	1	--	us2k¹		3		CSA WA NA	240
rs184492332^1,2		--	236847911(+)	`GTGGAC/TGAGAC`	1	--	us2k¹		0	--	--	--	--
rs140904432^1,2		--	236847927(+)	`CCCTGC/TGTTTG`	1	--	us2k¹		0	--	--	--	--
rs188502388^1,2		--	236847984(+)	`CGGGGC/TGTGGT`	1	--	us2k¹		0	--	--	--	--
rs114460921^1,2	F,	--	236848006(+)	`GTAATC/TCCCAC`	1	--	us2k¹		1		NA	120
rs149741468^1,2		--	236848171(+)	`GAATCA/GCTTGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACTN2 (236849754 - 236927931 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for ACTN2
7 CNVs: 97684 30460 71505 97683 31693 2351 71500
4 Indels: 44531 34323 24109 24108
Human Gene Mutation Database (HGMD): ACTN2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACTN2 for disorders           About GeneDecksing

OMIM gene information: 102573
OMIM 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

20/25 diseases for ACTN2 (see all 25): About MalaCards

skeletal muscle regeneration endocardial fibroelastosis infantile onset spinocerebellar ataxia muscular dystrophy

neuromuscular disease congenital muscular dystrophy systemic lupus erythematosus lupus erythematosus

spinocerebellar ataxia papillary thyroid carcinoma macular degeneration dilated cardiomyopathy

herpes simplex intrahepatic cholangiocarcinoma cardiomyopathy thyroid carcinoma

cholangiocarcinoma thyroiditis ataxia lung carcinoma

2 diseases from the University of Copenhagen DISEASES database for ACTN2:

Endocardial fibroelastosis Infantile onset spinocerebellar ataxia

2 Novoseek disease relationships for ACTN2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuromuscular diseases	32.3	1	8887951 (1)
muscular dystrophies	32	1	11699871 (1)

GeneTests: ACTN2

Dilated Cardiomyopathy

Human Genome Epidemiology (HuGE) Navigator: ACTN2 (10 documents)

Export disorders for ACTN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACTN2 gene, integrated from 9 sources (see all 132):
(articles sorted by number of sources associating them with ACTN2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PubMed id 1339456)^{1, 2, 3, 9} 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, 2, 9} Tiso N....Danieli G.A. (1999)
ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098)^{1, 2, 9} Faulkner G.... Lanfranchi G. (1999)
F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. (PubMed id 22972877)^{1, 2} Spaich S.... Frey N. (2012)
BPAG1 isoform-b: complex distribution pattern in stri ated and heart muscle and association with plectin and alpha-actinin. (PubMed id 19932097)^{1, 2} Steiner-Champliaud M.F....Borradori L. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} 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)^{1, 2} Frey N. and Olson E.N. (2002)
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PubMed id 11171996)^{1, 2} Takada F.... Beggs A.H. (2001)
Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)^{1, 2} Frey N.... Olson E.N. (2000)
FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z- disc of skeletal muscle. (PubMed id 10984498)^{1, 2} Faulkner G.... Lanfranchi G. (2000)

(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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 88	HGNC: 164	AceView: ACTN2	Ensembl:ENSG00000077522	euGenes: HUgn88
ECgene: ACTN2	Kegg: 88	H-InvDB: ACTN2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACTN2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTN2

Intellectual Property for ACTN2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ACTN2 gene:
Search GeneIP for patents involving ACTN2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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actinin, alpha 2

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actinin, alpha 2

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