ACTN3 (actinin alpha 3) - Rat Genome Database

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Gene: ACTN3 (actinin alpha 3) Homo sapiens
Analyze
Symbol: ACTN3
Name: actinin alpha 3
RGD ID: 734136
HGNC Page HGNC
Description: Exhibits identical protein binding activity and ion channel binding activity. Involved in focal adhesion assembly. Localizes to focal adhesion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actinin alpha 3 (gene/pseudogene); actinin, alpha 3; ACTN3D; alpha-actinin skeletal muscle; alpha-actinin-3; F-actin cross-linking protein; MGC117002; MGC117005
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,546,395 - 66,563,334 (+)EnsemblGRCh38hg38GRCh38
GRCh381166,546,395 - 66,563,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,313,866 - 66,330,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,070,967 - 66,087,373 (+)NCBINCBI36hg18NCBI36
Build 341166,070,966 - 66,087,373NCBI
Celera1163,634,667 - 63,651,076 (+)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,641,774 - 62,658,713 (+)NCBIHuRef
CHM1_11166,197,591 - 66,214,533 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1629252   PMID:8104223   PMID:8889548   PMID:9675099   PMID:10192379   PMID:10656685   PMID:11171996   PMID:11309420   PMID:11440986   PMID:11972353   PMID:12477932   PMID:12692149  
PMID:12837758   PMID:12879365   PMID:15221860   PMID:15489334   PMID:15718405   PMID:15808860   PMID:15817725   PMID:15841212   PMID:15886711   PMID:16344560   PMID:16612741   PMID:16807302  
PMID:17033684   PMID:17339648   PMID:17468578   PMID:17550918   PMID:17560787   PMID:17627799   PMID:17630210   PMID:17828264   PMID:17848603   PMID:17879893   PMID:17986906   PMID:18043716  
PMID:18470530   PMID:18637739   PMID:18651373   PMID:18676575   PMID:18687124   PMID:18718976   PMID:18756004   PMID:18801770   PMID:19016781   PMID:19038838   PMID:19150855   PMID:19237423  
PMID:19405879   PMID:19422651   PMID:19544227   PMID:19696509   PMID:19807896   PMID:19913121   PMID:19943616   PMID:20005538   PMID:20010124   PMID:20013558   PMID:20044471   PMID:20044476  
PMID:20069311   PMID:20089531   PMID:20148371   PMID:20222007   PMID:20459474   PMID:20507967   PMID:20561285   PMID:20628086   PMID:20699471   PMID:20734058   PMID:20830656   PMID:20845221  
PMID:20936592   PMID:20952631   PMID:20966103   PMID:21072744   PMID:21299892   PMID:21407828   PMID:21472630   PMID:21491997   PMID:21542061   PMID:21784188   PMID:21842214   PMID:21926972  
PMID:21930675   PMID:21933355   PMID:21956137   PMID:22045415   PMID:22117592   PMID:22224919   PMID:22247001   PMID:22253474   PMID:22639897   PMID:22648472   PMID:22855367   PMID:22868563  
PMID:22891846   PMID:22916217   PMID:22983821   PMID:22996021   PMID:23092649   PMID:23145141   PMID:23190598   PMID:23348074   PMID:23358679   PMID:23359641   PMID:23384112   PMID:23414517  
PMID:23522773   PMID:23533145   PMID:23539075   PMID:23676962   PMID:23681449   PMID:23689106   PMID:23868678   PMID:24058088   PMID:24091322   PMID:24114905   PMID:24313907   PMID:24343324  
PMID:24504226   PMID:24566537   PMID:24651987   PMID:25059829   PMID:25184681   PMID:25268288   PMID:25416956   PMID:25439211   PMID:25488167   PMID:25569611   PMID:25590140   PMID:25590636  
PMID:25650734   PMID:25671201   PMID:25687200   PMID:25706920   PMID:25729275   PMID:25734782   PMID:25761730   PMID:25761735   PMID:25780092   PMID:25831089   PMID:25939605   PMID:26107372  
PMID:26125182   PMID:26148057   PMID:26186194   PMID:26248038   PMID:26284168   PMID:26312134   PMID:26324221   PMID:26344197   PMID:26429734   PMID:26483160   PMID:26618866   PMID:26677828  
PMID:26681802   PMID:26757799   PMID:26802899   PMID:26816005   PMID:26840443   PMID:26919654   PMID:27075997   PMID:27188902   PMID:27338534   PMID:27442335   PMID:27819725   PMID:27861536  
PMID:27913923   PMID:27966742   PMID:28139640   PMID:28154975   PMID:28161632   PMID:28177711   PMID:28177749   PMID:28195972   PMID:28254467   PMID:28293018   PMID:28303562   PMID:28337894  
PMID:28395715   PMID:28514442   PMID:28604741   PMID:28626757   PMID:28817413   PMID:29032593   PMID:29165731   PMID:29269700   PMID:29298672   PMID:29401200   PMID:29447359   PMID:29706347  
PMID:29729690   PMID:29781940   PMID:29857001   PMID:29892012   PMID:29955039   PMID:30167790   PMID:30199453   PMID:30281865   PMID:30309655   PMID:30335718   PMID:30360698   PMID:30366217  
PMID:30399645   PMID:30431530   PMID:30721342   PMID:30809309   PMID:31035544   PMID:31145768   PMID:31146466   PMID:31586073   PMID:31748003   PMID:31990958   PMID:32209306   PMID:32296183  
PMID:32552448   PMID:32726330   PMID:32856541   PMID:32866209   PMID:33504021   PMID:33600773   PMID:33637766  


Genomics

Comparative Map Data
ACTN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,546,395 - 66,563,334 (+)EnsemblGRCh38hg38GRCh38
GRCh381166,546,395 - 66,563,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,313,866 - 66,330,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,070,967 - 66,087,373 (+)NCBINCBI36hg18NCBI36
Build 341166,070,966 - 66,087,373NCBI
Celera1163,634,667 - 63,651,076 (+)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,641,774 - 62,658,713 (+)NCBIHuRef
CHM1_11166,197,591 - 66,214,533 (+)NCBICHM1_1
Actn3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,911,244 - 4,927,937 (-)NCBIGRCm39mm39
GRCm39 Ensembl194,911,244 - 4,927,937 (-)Ensembl
GRCm38194,861,216 - 4,877,909 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,861,216 - 4,877,909 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,861,223 - 4,877,884 (-)NCBIGRCm37mm9NCBIm37
MGSCv36194,861,223 - 4,877,884 (-)NCBImm8
Celera194,732,270 - 4,748,828 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.12NCBI
Actn3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21202,159,081 - 202,175,012 (-)NCBI
Rnor_6.0 Ensembl1220,120,533 - 220,136,470 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01220,120,532 - 220,136,460 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01227,051,530 - 227,067,458 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,475,569 - 207,492,267 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11207,629,022 - 207,645,720 (-)NCBI
Celera1199,698,703 - 199,714,632 (-)NCBICelera
Cytogenetic Map1q43NCBI
Actn3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,799,372 - 18,812,711 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,799,372 - 18,812,458 (-)NCBIChiLan1.0ChiLan1.0
ACTN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11165,229,043 - 65,245,429 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,228,713 - 65,245,429 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01161,905,722 - 61,922,227 (+)NCBIMhudiblu_PPA_v0panPan3
ACTN3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,787,353 - 50,801,036 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1850,787,353 - 50,801,197 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,396,057 - 49,409,780 (-)NCBI
ROS_Cfam_1.01851,819,196 - 51,832,924 (-)NCBI
UMICH_Zoey_3.11850,920,215 - 50,933,937 (-)NCBI
UNSW_CanFamBas_1.01850,500,258 - 50,513,996 (-)NCBI
UU_Cfam_GSD_1.01851,290,188 - 51,303,909 (-)NCBI
Actn3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,591,510 - 6,604,021 (-)NCBI
SpeTri2.0NW_0049365993,033,854 - 3,046,364 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,858,845 - 5,874,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,860,386 - 5,873,779 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.224,936,279 - 4,949,682 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTN3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,708,595 - 7,724,634 (-)NCBI
ChlSab1.1 Ensembl17,705,725 - 7,724,589 (-)Ensembl
Vero_WHO_p1.0NW_023666038104,992,438 - 105,008,258 (-)NCBI
Actn3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476719,844,996 - 19,859,274 (-)NCBI

Position Markers
G54071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,330,971 - 66,331,084UniSTSGRCh37
Build 361166,087,547 - 66,087,660RGDNCBI36
Celera1163,651,250 - 63,651,363RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1162,658,885 - 62,658,998UniSTS
GDB:197568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,330,614 - 66,330,777UniSTSGRCh37
Build 361166,087,190 - 66,087,353RGDNCBI36
Celera1163,650,893 - 63,651,056RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1162,658,528 - 62,658,691UniSTS
ACTN3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,325,253 - 66,325,560UniSTSGRCh37
GRCh371166,330,657 - 66,330,783UniSTSGRCh37
Build 361166,087,233 - 66,087,359RGDNCBI36
Celera1163,645,533 - 63,645,840UniSTS
Celera1163,650,936 - 63,651,062RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1162,653,167 - 62,653,474UniSTS
HuRef1162,658,571 - 62,658,697UniSTS
GeneMap99-GB4 RH Map11249.75UniSTS
NCBI RH Map11578.5UniSTS
STS-W72567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,330,971 - 66,331,188UniSTSGRCh37
Build 361166,087,547 - 66,087,764RGDNCBI36
Celera1163,651,250 - 63,651,467RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1162,658,885 - 62,659,102UniSTS
GeneMap99-GB4 RH Map11253.01UniSTS
NCBI RH Map11574.6UniSTS
RH47283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,330,941 - 66,331,084UniSTSGRCh37
Build 361166,087,517 - 66,087,660RGDNCBI36
Celera1163,651,220 - 63,651,363RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1162,658,855 - 62,658,998UniSTS
GeneMap99-GB4 RH Map11253.34UniSTS
STS-M86407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,330,560 - 66,330,680UniSTSGRCh37
Build 361166,087,136 - 66,087,256RGDNCBI36
Celera1163,650,839 - 63,650,959RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1162,658,474 - 62,658,594UniSTS
GeneMap99-GB4 RH Map11249.75UniSTS
NCBI RH Map11578.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:709
Count of miRNA genes:401
Interacting mature miRNAs:440
Transcripts:ENST00000502692, ENST00000511191, ENST00000513398
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 33 33 33
Medium 17 1 1 20 826 650 3 150 5 2 2 648
Low 615 570 394 32 308 8 904 461 622 26 523 463 24 328 693 1 1
Below cutoff 1685 2313 1129 428 1355 295 2524 1009 3004 183 687 967 140 1 873 1406 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ346025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL043389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AMYH02024979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ575174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU732652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX787471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA827389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000502692   ⟹   ENSP00000422007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,546,395 - 66,563,326 (+)Ensembl
RefSeq Acc Id: ENST00000511191   ⟹   ENSP00000426236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,546,915 - 66,554,561 (+)Ensembl
RefSeq Acc Id: ENST00000513398   ⟹   ENSP00000426797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,546,903 - 66,563,334 (+)Ensembl
RefSeq Acc Id: NM_001104   ⟹   NP_001095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,546,903 - 66,563,334 (+)NCBI
GRCh371166,314,312 - 66,330,799 (+)NCBI
Build 361166,070,967 - 66,087,373 (+)NCBI Archive
CHM1_11166,198,037 - 66,214,533 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258371   ⟹   NP_001245300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,546,395 - 66,563,334 (+)NCBI
CHM1_11166,197,591 - 66,214,533 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001095   ⟸   NM_001104
- Peptide Label: isoform 1
- UniProtKB: Q08043 (UniProtKB/Swiss-Prot),   B4DZQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245300   ⟸   NM_001258371
- Peptide Label: isoform 2
- UniProtKB: Q08043 (UniProtKB/Swiss-Prot),   A0A087WSZ2 (UniProtKB/TrEMBL),   B4DZQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000422007   ⟸   ENST00000502692
RefSeq Acc Id: ENSP00000426236   ⟸   ENST00000511191
RefSeq Acc Id: ENSP00000426797   ⟸   ENST00000513398
Protein Domains
Calponin-homology (CH)   EF-hand

Promoters
RGD ID:6815913
Promoter ID:HG_SPT:11167
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BP318079,   BU732652,   DA827389
Position:
Human AssemblyChrPosition (strand)Source
Build 361166,083,061 - 66,083,561 (+)MPROMDB
RGD ID:7221169
Promoter ID:EPDNEW_H16329
Type:multiple initiation site
Name:ACTN3_1
Description:actinin alpha 3 (gene/pseudogene)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,546,905 - 66,546,965EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) single nucleotide variant ACTININ, ALPHA-3 POLYMORPHISM [RCV000019974]|ACTN3 deficiency [RCV000019975]|Sprinting performance [RCV000019976] Chr11:66560624 [GRCh38]
Chr11:66328095 [GRCh37]
Chr11:11q13.2
pathogenic|likely pathogenic|association|affects|benign
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2
pathogenic
NM_001104.3(ACTN3):c.708G>A (p.Leu236=) single nucleotide variant Malignant melanoma [RCV000069620] Chr11:66555357 [GRCh38]
Chr11:66322828 [GRCh37]
Chr11:66079404 [NCBI36]
Chr11:11q13.2
not provided
NM_003793.3(CTSF):c.394C>T (p.Pro132Ser) single nucleotide variant Malignant melanoma [RCV000069621] Chr11:66567581 [GRCh38]
Chr11:66335052 [GRCh37]
Chr11:66091628 [NCBI36]
Chr11:11q13.2
not provided
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001104.4(ACTN3):c.1237T>C (p.Phe413Leu) single nucleotide variant not provided [RCV001355999] Chr11:66558135 [GRCh38]
Chr11:66325606 [GRCh37]
Chr11:11q13.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:165 AgrOrtholog
COSMIC ACTN3 COSMIC
Ensembl Genes ENSG00000248746 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000422007 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000426236 UniProtKB/TrEMBL
  ENSP00000426797 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000502692 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000511191 UniProtKB/TrEMBL
  ENST00000513398 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000248746 GTEx
HGNC ID HGNC:165 ENTREZGENE
Human Proteome Map ACTN3 Human Proteome Map
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 89 ENTREZGENE
OMIM 102574 OMIM
  617749 OMIM
Pfam EFhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24485 PharmGKB
PROSITE ACTININ_1 UniProtKB/Swiss-Prot
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WSZ2 ENTREZGENE, UniProtKB/TrEMBL
  ACTN3_HUMAN UniProtKB/Swiss-Prot
  B4DZQ2 ENTREZGENE, UniProtKB/TrEMBL
  D6RH00_HUMAN UniProtKB/TrEMBL
  Q08043 ENTREZGENE
  Q4JCP9_HUMAN UniProtKB/TrEMBL
  Q4VAM3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NP77 UniProtKB/Swiss-Prot
  Q4KKV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 ACTN3  actinin alpha 3  ACTN3  actinin alpha 3 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2016-01-26 ACTN3  actinin alpha 3 (gene/pseudogene)    actinin, alpha 3 (gene/pseudogene)  Symbol and/or name change 5135510 APPROVED
2014-12-30 ACTN3  actinin, alpha 3 (gene/pseudogene)    actinin, alpha 3  Symbol and/or name change 5135510 APPROVED