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ACTN2 actinin alpha 2 [ Homo sapiens (human) ]

Gene ID: 88, updated on 1-Jun-2020

Summary

Official Symbol
ACTN2provided by HGNC
Official Full Name
actinin alpha 2provided by HGNC
Primary source
HGNC:HGNC:164
See related
Ensembl:ENSG00000077522 MIM:102573
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPD6; CMH23; CMD1AA; MYOCOZ
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]
Expression
Restricted expression toward heart (RPKM 342.0) See more
Orthologs

Genomic context

See ACTN2 in Genome Data Viewer
Location:
1q43
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (236686454..236764631)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236849754..236927931)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene galectin 8 Neighboring gene HEAT repeat containing 1 Neighboring gene control region 3 heart enhancer Neighboring gene VISTA enhancer hs2135 Neighboring gene 5-methyltetrahydrofolate-homocysteine methyltransferase Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene uncharacterized LOC105373218

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FATZ binding IDA
Inferred from Direct Assay
more info
PubMed 
LIM domain binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
integrin binding TAS
Traceable Author Statement
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
thyroid hormone receptor coactivator activity IEA
Inferred from Electronic Annotation
more info
 
titin Z domain binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
titin Z domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
titin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
actin filament uncapping IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
microspike assembly IDA
Inferred from Direct Assay
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of potassium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of potassium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipase C-activating angiotensin-activated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of cation channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of NMDA receptor activity TAS
Traceable Author Statement
more info
 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
actin filament TAS
Traceable Author Statement
more info
PubMed 
cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 
pseudopodium TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-actinin-2
Names
F-actin cross-linking protein
alpha-actinin skeletal muscle

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009081.1 RefSeqGene

    Range
    4985..83162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001103.4NP_001094.1  alpha-actinin-2 isoform 1

    See identical proteins and their annotated locations for NP_001094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes one of the longer isoforms (1) of this gene.
    Source sequence(s)
    AL359185, AL359921
    Consensus CDS
    CCDS1613.1
    UniProtKB/Swiss-Prot
    P35609
    Related
    ENSP00000355537.4, ENST00000366578.6
    Conserved Domains (5) summary
    COG5069
    Location:36299
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:402629
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:281391
    Spectrin; Spectrin repeat
    pfam08726
    Location:824890
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl25352
    Location:747851
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001278343.2NP_001265272.1  alpha-actinin-2 isoform 2

    See identical proteins and their annotated locations for NP_001265272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal coding exon and contains another compared to variant 1. The resulting isoform (2) has a few internal differences but is the same length as isoform 1.
    Source sequence(s)
    AL359185, AL359921
    Consensus CDS
    CCDS60455.1
    UniProtKB/Swiss-Prot
    P35609
    Related
    ENSP00000443495.1, ENST00000542672.6
    Conserved Domains (7) summary
    cd00014
    Location:152257
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:757819
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:402629
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:39137
    CH; Calponin homology (CH) domain
    pfam00435
    Location:281391
    Spectrin; Spectrin repeat
    pfam08726
    Location:824890
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:759818
    EF-hand_7; EF-hand domain pair
  3. NM_001278344.1NP_001265273.1  alpha-actinin-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two alternate internal exons compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB209521, AK315250, AL359185, BX103017
    Consensus CDS
    CCDS73053.1
    UniProtKB/Swiss-Prot
    P35609
    UniProtKB/TrEMBL
    F6THM6, Q59FD9
    Related
    ENSP00000438384.2, ENST00000546208.5
    Conserved Domains (5) summary
    cd00051
    Location:549611
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:194421
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:429531
    Spectrin; Spectrin repeat
    pfam08726
    Location:616682
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:551610
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    236686454..236764631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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