• Gene id: 88

Gene Summary

• Gene Symbol: ACTN2   Gene   UCSC   Ensembl
• Aliases: CMD1AA, CMH23, MPD6, MYOCOZ
• Gene name: actinin alpha 2
• Alternate names: alpha-actinin-2, F-actin cross-linking protein, alpha-actinin skeletal muscle,
• Gene location: 1q43 (236686453: 236764630)     Exons: 23     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 102573

SNPs

rs10835638

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>A
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T|SEQ=[G/A/T]|GENE=FSHB
LOC105376607   105376607

rs3197744

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1937841G>T
NC_000020.10   g.1918487G>T
XM_006723545.4   c.*273G>T
XM_005260670.3   c.*273G>T
XM_005260670.1   c.*273G>T
XM_011529173.2   c.*273G>T
NM_080792.2   c.*273G>T
NM_080792.3   c.*273G>T
NM_001330728.1   c.*273G>T
NM_001040022.1   c.*273G>T
NM_0  

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs10214930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27745330G>A
NC_000007.13   g.27784949G>A
NG_029523.1   g.10958G>A|SEQ=[G/A]|GENE=TAX1BP1

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs2472680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.119808929T>A
NC_000003.12   g.119808929T>C
NC_000003.12   g.119808929T>G
NC_000003.11   g.119527776T>A
NC_000003.11   g.119527776T>C
NC_000003.11   g.119527776T>G
NG_011856.1   g.33446T>A
NG_011856.1   g.33446T>C
NG_011856.1   g.33446T>G|SEQ=[T/A/C/G]

rs200847762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

rs3021522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

Protein Summary

• Protein general information: P35609  
  • Name: Alpha actinin 2 (Alpha actinin skeletal muscle isoform 2) (F actin cross linking protein)
  • Length: 894  
  • Mass: 103854
  • Tissue specificity: Expressed in both skeletal and cardiac muscle.
• Sequence:

  MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLL
  LEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEE
  TSAKEGLLLWCQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDI
  PKMLDAEDIVNTPKPDERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
  IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAW
  QRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESD
  LAAHQDRVEQIAAIAQELNELDYHDAVNVNDRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRA
  APFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
  TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEIARSSIQITGALEDQM
  NQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHIRVGWELLLTTIARTINEVETQILTRDAKGI
  TQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADT
  DTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL

• Structural information:
  • Protein Domains: (38..14-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (151..25-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (753..78-)
    (/note="EF-hand-1)
    (/evidence="E-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011992  IPR014837   IPR002048  IPR018159  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS50222
  • CDD: cd00014 cd00051
  • PDB: 1H8B 1HCI 1QUU 4D1E 5A36 5A37 5A38 5A4B
  • PDBsum: 1H8B 1HCI 1QUU 4D1E 5A36 5A37 5A38 5A4B
  • DIP: 383
  • STRING: ENSP00000443495
• Other Databases: GeneCards:  ACTN2  Malacards:  ACTN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005884	actin filament	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:2001259	positive regulation of cation channel activity	IEA	biological process
GO:2001137	positive regulation of endocytic recycling	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0055013	cardiac muscle cell development	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0044325	ion channel binding	IEA	molecular function
GO:0030274	LIM domain binding	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0030375	thyroid hormone receptor coactivator activity	IEA	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	IEA	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0031432	titin binding	IPI	molecular function
GO:0031432	titin binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070080	titin Z domain binding	IPI	molecular function
GO:1901018	positive regulation of potassium ion transmembrane transporter activity	IDA	biological process
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	IMP	biological process
GO:0043268	positive regulation of potassium ion transport	IDA	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0043267	negative regulation of potassium ion transport	IMP	biological process
GO:2000009	negative regulation of protein localization to cell surface	IMP	biological process
GO:0030018	Z disc	IEA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0030018	Z disc	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0051373	FATZ binding	IDA	molecular function
GO:0030035	microspike assembly	IDA	biological process
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0070062	extracellular exosome	HDA	cellular component
GO:2001259	positive regulation of cation channel activity	IMP	biological process
GO:2001137	positive regulation of endocytic recycling	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:2001259	positive regulation of cation channel activity	IMP	biological process
GO:0086097	phospholipase C-activating angiotensin-activated signaling pathway	IMP	biological process
GO:0045214	sarcomere organization	IMP	biological process
GO:0070080	titin Z domain binding	IMP	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0051695	actin filament uncapping	IMP	biological process
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0031143	pseudopodium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048041	focal adhesion assembly	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0043197	dendritic spine	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0005925	focal adhesion	IMP	cellular component
GO:0005856	cytoskeleton	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	TAS	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Dilated cardiomyopathy	KEGG:H00294
Arrhythmogenic right ventricular cardiomyopathy	PMID:11078270
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq