ACTN4 (actinin alpha 4) - Rat Genome Database

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Gene: ACTN4 (actinin alpha 4) Homo sapiens
Analyze
Symbol: ACTN4
Name: actinin alpha 4
RGD ID: 735302
HGNC Page HGNC
Description: Exhibits several functions, including DNA binding activity; ion channel binding activity; and nuclear receptor coactivator activity. Involved in several processes, including intracellular receptor signaling pathway; negative regulation of substrate adhesion-dependent cell spreading; and positive regulation of NIK/NF-kappaB signaling. Localizes to several cellular components, including cytosol; nuclear body; and perinuclear region of cytoplasm. Colocalizes with actin cytoskeleton. Implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actinin alpha4 isoform; actinin, alpha 4; ACTININ-4; alpha-actinin-4; DKFZp686K23158; F-actin cross-linking protein; focal segmental glomerulosclerosis 1; FSGS; FSGS1; non-muscle alpha-actinin 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ACTN4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1938,647,649 - 38,731,589 (+)EnsemblGRCh38hg38GRCh38
GRCh381938,647,649 - 38,731,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371939,138,289 - 39,222,229 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,830,167 - 43,913,010 (+)NCBINCBI36hg18NCBI36
Build 341943,830,166 - 43,913,010NCBI
Celera1935,940,352 - 36,023,163 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,584,836 - 35,667,954 (+)NCBIHuRef
CHM1_11939,139,079 - 39,221,980 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1602151   PMID:1629252   PMID:2116421   PMID:8104223   PMID:9461087   PMID:9508771   PMID:10556093   PMID:10656685   PMID:10673389   PMID:10753915   PMID:10915794   PMID:11160423  
PMID:11358829   PMID:11382784   PMID:11707406   PMID:11724819   PMID:11733011   PMID:11739652   PMID:11882289   PMID:11948184   PMID:12042308   PMID:12093915   PMID:12202484   PMID:12411747  
PMID:12477932   PMID:12617336   PMID:12837758   PMID:12960352   PMID:14630798   PMID:14744259   PMID:15048094   PMID:15070900   PMID:15152255   PMID:15342556   PMID:15364540   PMID:15489334  
PMID:15493875   PMID:15588985   PMID:15592455   PMID:15619032   PMID:15772161   PMID:15780077   PMID:15841212   PMID:15988023   PMID:16009940   PMID:16105984   PMID:16189514   PMID:16204054  
PMID:16212417   PMID:16251236   PMID:16341674   PMID:16344560   PMID:16396496   PMID:16502470   PMID:16510730   PMID:16713569   PMID:16751776   PMID:16791210   PMID:16807302   PMID:16944923  
PMID:16951376   PMID:16980305   PMID:17018644   PMID:17289661   PMID:17438131   PMID:17873890   PMID:17901210   PMID:17955473   PMID:17968527   PMID:18029348   PMID:18164029   PMID:18180332  
PMID:18215660   PMID:18362906   PMID:18436095   PMID:18552466   PMID:18726620   PMID:18765526   PMID:19142020   PMID:19151661   PMID:19199708   PMID:19322201   PMID:19357256   PMID:19380743  
PMID:19447967   PMID:19666657   PMID:19672209   PMID:19738201   PMID:19805454   PMID:19913121   PMID:19913389   PMID:19920151   PMID:19943616   PMID:19956976   PMID:20037648   PMID:20156433  
PMID:20197409   PMID:20201926   PMID:20391533   PMID:20448150   PMID:20458337   PMID:20519146   PMID:20628086   PMID:20819441   PMID:20936779   PMID:21078624   PMID:21078666   PMID:21081666  
PMID:21163940   PMID:21234524   PMID:21280222   PMID:21362503   PMID:21408150   PMID:21423176   PMID:21655212   PMID:21680739   PMID:21784188   PMID:21800051   PMID:21890413   PMID:21988832  
PMID:22079093   PMID:22252987   PMID:22348389   PMID:22351778   PMID:22370640   PMID:22567897   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22662192   PMID:22825873   PMID:22863883  
PMID:22908231   PMID:22939629   PMID:22965004   PMID:23000411   PMID:23085994   PMID:23182705   PMID:23326349   PMID:23376485   PMID:23414517   PMID:23454549   PMID:23463506   PMID:23466492  
PMID:23472066   PMID:23482348   PMID:23504125   PMID:23533145   PMID:23557398   PMID:23583979   PMID:23689571   PMID:23711888   PMID:23793025   PMID:23810014   PMID:23817592   PMID:23890478  
PMID:23899839   PMID:24574362   PMID:24658140   PMID:24711643   PMID:24802111   PMID:24922688   PMID:24966941   PMID:24981860   PMID:25107367   PMID:25147182   PMID:25216292   PMID:25241761  
PMID:25277244   PMID:25296750   PMID:25299231   PMID:25402006   PMID:25411248   PMID:25416956   PMID:25602965   PMID:25662211   PMID:25750325   PMID:25798074   PMID:25860875   PMID:25885339  
PMID:25910212   PMID:25918384   PMID:25921289   PMID:25944910   PMID:25963833   PMID:26094769   PMID:26186194   PMID:26209609   PMID:26320552   PMID:26344197   PMID:26432781   PMID:26496610  
PMID:26618866   PMID:26740551   PMID:26760575   PMID:26819309   PMID:26871637   PMID:26949251   PMID:26995963   PMID:27028653   PMID:27049334   PMID:27065319   PMID:27075176   PMID:27114546  
PMID:27121206   PMID:27173435   PMID:27377895   PMID:27462432   PMID:27609421   PMID:27613525   PMID:27666967   PMID:27684187   PMID:27751915   PMID:27880917   PMID:27977723   PMID:27998979  
PMID:28079882   PMID:28298427   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28385383   PMID:28514442   PMID:28515276   PMID:28569760   PMID:28581483   PMID:28675297   PMID:28718761  
PMID:28743114   PMID:28797528   PMID:29055790   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29197410   PMID:29251177   PMID:29274473   PMID:29467282   PMID:29507755   PMID:29706658  
PMID:29791485   PMID:29867145   PMID:29872149   PMID:29892012   PMID:29921500   PMID:30196744   PMID:30230542   PMID:30258071   PMID:30353690   PMID:30413534   PMID:30425250   PMID:30455355  
PMID:30542119   PMID:30575818   PMID:30687645   PMID:30737378   PMID:30776251   PMID:30879239   PMID:30890647   PMID:30948266   PMID:31054253   PMID:31091453   PMID:31180492   PMID:31300519  
PMID:31399951   PMID:31519766   PMID:31527668   PMID:31536960   PMID:31584624   PMID:31586073   PMID:31664084   PMID:31796584   PMID:31930129   PMID:31941606   PMID:31967944   PMID:31980649  
PMID:31995728   PMID:32051585   PMID:32129710   PMID:32265507   PMID:32296183   PMID:32322062   PMID:32521226   PMID:32540856   PMID:32552912   PMID:32780723  


Genomics

Comparative Map Data
ACTN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1938,647,649 - 38,731,589 (+)EnsemblGRCh38hg38GRCh38
GRCh381938,647,649 - 38,731,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371939,138,289 - 39,222,229 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,830,167 - 43,913,010 (+)NCBINCBI36hg18NCBI36
Build 341943,830,166 - 43,913,010NCBI
Celera1935,940,352 - 36,023,163 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,584,836 - 35,667,954 (+)NCBIHuRef
CHM1_11939,139,079 - 39,221,980 (+)NCBICHM1_1
Actn4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39728,592,673 - 28,661,799 (-)NCBIGRCm39mm39
GRCm39 Ensembl728,592,673 - 28,661,765 (-)Ensembl
GRCm38728,893,248 - 28,962,351 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl728,893,248 - 28,962,340 (-)EnsemblGRCm38mm10GRCm38
MGSCv37729,678,273 - 29,747,299 (-)NCBIGRCm37mm9NCBIm37
MGSCv36728,602,014 - 28,671,040 (-)NCBImm8
Celera723,454,694 - 23,523,720 (-)NCBICelera
Cytogenetic Map7B1NCBI
Actn4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2184,182,783 - 84,251,867 (-)NCBI
Rnor_6.0 Ensembl187,078,020 - 87,147,333 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0187,078,012 - 87,147,347 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0188,258,630 - 88,327,965 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4184,000,723 - 84,073,767 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1184,079,711 - 84,151,876 (-)NCBI
Celera178,572,890 - 78,641,919 (-)NCBICelera
Cytogenetic Map1q21NCBI
Actn4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955468770,573 - 842,209 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955468770,573 - 841,859 (-)NCBIChiLan1.0ChiLan1.0
ACTN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11944,313,569 - 44,395,508 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1944,313,569 - 44,395,508 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01935,742,758 - 35,825,321 (+)NCBIMhudiblu_PPA_v0panPan3
ACTN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11114,354,993 - 114,427,997 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1114,309,693 - 114,427,991 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1113,759,618 - 113,832,649 (-)NCBI
ROS_Cfam_1.01114,956,867 - 115,029,926 (-)NCBI
UMICH_Zoey_3.11114,530,067 - 114,602,907 (-)NCBI
UNSW_CanFamBas_1.01114,147,609 - 114,220,650 (-)NCBI
UU_Cfam_GSD_1.01115,186,154 - 115,259,191 (-)NCBI
Actn4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934913,167,758 - 13,237,529 (+)NCBI
SpeTri2.0NW_0049368011,333,077 - 1,402,885 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl647,493,882 - 47,569,609 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1647,493,834 - 47,565,999 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2643,045,503 - 43,126,155 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACTN4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1633,290,639 - 33,373,059 (+)NCBI
ChlSab1.1 Ensembl633,290,622 - 33,374,693 (+)Ensembl
Vero_WHO_p1.0NW_02366607311,240,578 - 11,323,802 (+)NCBI
Actn4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479412,042,627 - 12,113,762 (+)NCBI

Position Markers
D19S589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371953,783,458 - 53,783,577UniSTSGRCh37
GRCh371953,806,582 - 53,806,756UniSTSGRCh37
Build 361958,475,270 - 58,475,389RGDNCBI36
Celera1950,825,339 - 50,825,458RGD
Celera1950,848,270 - 50,848,440UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.42UniSTS
HuRef1950,104,090 - 50,104,209UniSTS
HuRef1950,127,202 - 50,127,372UniSTS
Marshfield Genetic Map1987.66RGD
Marshfield Genetic Map1987.66UniSTS
D19S422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,170,120 - 39,170,304UniSTSGRCh37
Build 361943,861,960 - 43,862,144RGDNCBI36
Celera1935,972,133 - 35,972,317RGD
Cytogenetic Map19q13UniSTS
HuRef1935,616,702 - 35,616,886UniSTS
Marshfield Genetic Map1963.1UniSTS
Marshfield Genetic Map1963.1RGD
Genethon Genetic Map1962.5UniSTS
deCODE Assembly Map1964.12UniSTS
A008Q24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,176,175 - 39,176,353UniSTSGRCh37
Build 361943,868,015 - 43,868,193RGDNCBI36
Celera1935,978,188 - 35,978,366RGD
Cytogenetic Map19q13UniSTS
HuRef1935,622,744 - 35,622,922UniSTS
GeneMap99-GB4 RH Map19223.6UniSTS
SHGC-145808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,205,485 - 39,205,785UniSTSGRCh37
Build 361943,897,325 - 43,897,625RGDNCBI36
Celera1936,007,478 - 36,007,778RGD
Cytogenetic Map19q13UniSTS
HuRef1935,652,033 - 35,652,333UniSTS
TNG Radiation Hybrid Map1914759.0UniSTS
SHGC-145914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,206,156 - 39,206,349UniSTSGRCh37
Build 361943,897,996 - 43,898,189RGDNCBI36
Celera1936,008,149 - 36,008,342RGD
Cytogenetic Map19q13UniSTS
HuRef1935,652,704 - 35,652,897UniSTS
TNG Radiation Hybrid Map1914766.0UniSTS
D19S1071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,146,267 - 39,146,432UniSTSGRCh37
Build 361943,838,107 - 43,838,272RGDNCBI36
Celera1935,948,292 - 35,948,457RGD
Cytogenetic Map19q13UniSTS
HuRef1935,592,835 - 35,593,000UniSTS
Stanford-G3 RH Map191720.0UniSTS
NCBI RH Map19415.1UniSTS
RH16012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,221,004 - 39,221,145UniSTSGRCh37
Build 361943,912,844 - 43,912,985RGDNCBI36
Celera1936,022,997 - 36,023,138RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13UniSTS
HuRef1935,667,787 - 35,667,928UniSTS
GeneMap99-GB4 RH Map19223.5UniSTS
WI-17325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,172,363 - 39,172,464UniSTSGRCh37
Build 361943,864,203 - 43,864,304RGDNCBI36
Celera1935,974,376 - 35,974,477RGD
Cytogenetic Map19q13UniSTS
HuRef1935,618,932 - 35,619,033UniSTS
GeneMap99-GB4 RH Map19223.7UniSTS
Whitehead-RH Map19287.6UniSTS
RH35900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,157,838 - 39,157,965UniSTSGRCh37
Build 361943,849,678 - 43,849,805RGDNCBI36
Celera1935,959,863 - 35,959,990RGD
Cytogenetic Map19q13UniSTS
HuRef1935,604,407 - 35,604,534UniSTS
GeneMap99-GB4 RH Map19224.32UniSTS
SHGC-16522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,221,211 - 39,221,350UniSTSGRCh37
Build 361943,913,051 - 43,913,190RGDNCBI36
Celera1936,023,204 - 36,023,343RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13UniSTS
HuRef1935,667,994 - 35,668,133UniSTS
TNG Radiation Hybrid Map1914752.0UniSTS
GeneMap99-G3 RH Map191720.0UniSTS
MARC_12245-12246:1008698037:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,200,066 - 39,200,963UniSTSGRCh37
Build 361943,891,906 - 43,892,803RGDNCBI36
Celera1936,002,080 - 36,002,977RGD
HuRef1935,646,636 - 35,647,533UniSTS
D4S439E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13UniSTS
Actn4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,218,670 - 39,219,712UniSTSGRCh37
Celera1936,020,663 - 36,021,705UniSTS
HuRef1935,665,443 - 35,666,495UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6134
Count of miRNA genes:1047
Interacting mature miRNAs:1313
Transcripts:ENST00000252699, ENST00000390009, ENST00000424234, ENST00000440400, ENST00000477174, ENST00000489451, ENST00000495553, ENST00000497637, ENST00000586538, ENST00000588618, ENST00000589528
Prediction methods:Microtar, 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 21 434 2 2 1 3 313 5 17 5 57 19 307
Medium 2418 2548 1722 621 1937 461 4043 2189 3706 414 1403 1594 175 1 1204 2480 6 2
Low 9 2 1 13 1 1 3 11 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA478431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA847056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC256309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU118403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM841805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP332596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU987085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY048627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R66605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252699   ⟹   ENSP00000252699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,647,649 - 38,731,589 (+)Ensembl
RefSeq Acc Id: ENST00000390009   ⟹   ENSP00000439497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,647,738 - 38,729,447 (+)Ensembl
RefSeq Acc Id: ENST00000424234   ⟹   ENSP00000411187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,647,746 - 38,729,432 (+)Ensembl
RefSeq Acc Id: ENST00000440400   ⟹   ENSP00000398393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,724,157 - 38,731,583 (+)Ensembl
RefSeq Acc Id: ENST00000477174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,728,145 - 38,729,421 (+)Ensembl
RefSeq Acc Id: ENST00000489451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,710,833 - 38,717,117 (+)Ensembl
RefSeq Acc Id: ENST00000495553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,648,193 - 38,709,423 (+)Ensembl
RefSeq Acc Id: ENST00000497637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,727,856 - 38,729,820 (+)Ensembl
RefSeq Acc Id: ENST00000586538   ⟹   ENSP00000465176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,708,142 - 38,717,316 (+)Ensembl
RefSeq Acc Id: ENST00000588618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,647,649 - 38,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000589528   ⟹   ENSP00000467190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,647,738 - 38,730,144 (+)Ensembl
RefSeq Acc Id: NM_001322033   ⟹   NP_001308962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,647,649 - 38,731,589 (+)NCBI
CHM1_11939,139,079 - 39,221,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004924   ⟹   NP_004915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,647,649 - 38,731,589 (+)NCBI
GRCh371939,138,256 - 39,221,336 (+)NCBI
Build 361943,830,167 - 43,913,010 (+)NCBI Archive
HuRef1935,584,836 - 35,667,954 (+)ENTREZGENE
CHM1_11939,139,079 - 39,221,980 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259281   ⟹   XP_005259338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,647,687 - 38,730,122 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723406   ⟹   XP_006723469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,647,687 - 38,730,144 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027331   ⟹   XP_016882820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,647,687 - 38,730,531 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004915   ⟸   NM_004924
- Peptide Label: isoform 1
- UniProtKB: O43707 (UniProtKB/Swiss-Prot),   A0A0S2Z3G9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259338   ⟸   XM_005259281
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006723469   ⟸   XM_006723406
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001308962   ⟸   NM_001322033
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_016882820   ⟸   XM_017027331
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000252699   ⟸   ENST00000252699
RefSeq Acc Id: ENSP00000411187   ⟸   ENST00000424234
RefSeq Acc Id: ENSP00000398393   ⟸   ENST00000440400
RefSeq Acc Id: ENSP00000465176   ⟸   ENST00000586538
RefSeq Acc Id: ENSP00000467190   ⟸   ENST00000589528
RefSeq Acc Id: ENSP00000439497   ⟸   ENST00000390009
Protein Domains
Calponin-homology (CH)   EF-hand

Promoters
RGD ID:7239825
Promoter ID:EPDNEW_H25658
Type:initiation region
Name:ACTN4_1
Description:actinin alpha 4
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
GRCh381938,647,687 - 38,647,747EPDNEW
RGD ID:6795102
Promoter ID:HG_KWN:29849
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000268091,   OTTHUMT00000268092,   UC010EGC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361943,829,899 - 43,830,399 (+)MPROMDB
RGD ID:6795104
Promoter ID:HG_KWN:29853
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000268095,   OTTHUMT00000268096
Position:
Human AssemblyChrPosition (strand)Source
Build 361943,910,386 - 43,910,886 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000005753]|not provided [RCV001385888] Chr19:38710286 [GRCh38]
Chr19:39200926 [GRCh37]
Chr19:19q13.2
pathogenic
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000005754]|not provided [RCV000991481] Chr19:38710299 [GRCh38]
Chr19:39200939 [GRCh37]
Chr19:19q13.2
pathogenic
NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000005755] Chr19:38710307 [GRCh38]
Chr19:39200947 [GRCh37]
Chr19:19q13.2
pathogenic
NM_004924.6(ACTN4):c.2400_2401delinsTA (p.Val801Met) indel not provided [RCV000722578] Chr19:38728008..38728009 [GRCh38]
Chr19:39218648..39218649 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu) single nucleotide variant not specified [RCV000517416] Chr19:38724332 [GRCh38]
Chr19:39214972 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_004924.4(ACTN4):c.939C>A (p.Ile313=) single nucleotide variant Malignant melanoma [RCV000072128] Chr19:38717112 [GRCh38]
Chr19:39207752 [GRCh37]
Chr19:43899592 [NCBI36]
Chr19:19q13.2
not provided
NM_004924.4(ACTN4):c.940C>T (p.Pro314Ser) single nucleotide variant Malignant melanoma [RCV000072129] Chr19:38717113 [GRCh38]
Chr19:39207753 [GRCh37]
Chr19:43899593 [NCBI36]
Chr19:19q13.2
not provided
NM_144691.4(CAPN12):c.1602C>T (p.Ile534=) single nucleotide variant Malignant melanoma [RCV000072130] Chr19:38735526 [GRCh38]
Chr19:39226166 [GRCh37]
Chr19:43918006 [NCBI36]
Chr19:19q13.2
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2
pathogenic
NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000224984] Chr19:38708128 [GRCh38]
Chr19:39198768 [GRCh37]
Chr19:19q13.2
pathogenic
NM_004924.6(ACTN4):c.246C>T (p.Leu82=) single nucleotide variant not provided [RCV000710412]|not specified [RCV000243609] Chr19:38700683 [GRCh38]
Chr19:39191323 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.978G>A (p.Gln326=) single nucleotide variant not provided [RCV000971678]|not specified [RCV000246295] Chr19:38717151 [GRCh38]
Chr19:39207791 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000576321]|not specified [RCV000248576] Chr19:38729140 [GRCh38]
Chr19:39219780 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu) single nucleotide variant not provided [RCV000959550]|not specified [RCV000253544] Chr19:38729366 [GRCh38]
Chr19:39220006 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=) single nucleotide variant not provided [RCV000954775]|not specified [RCV000244115] Chr19:38724553 [GRCh38]
Chr19:39215193 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) single nucleotide variant not specified [RCV000249085] Chr19:38727082 [GRCh38]
Chr19:39217722 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1144-11C>A single nucleotide variant not specified [RCV000241935] Chr19:38717916 [GRCh38]
Chr19:39208556 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000576706]|not specified [RCV000252096] Chr19:38724532 [GRCh38]
Chr19:39215172 [GRCh37]
Chr19:19q13.2
likely pathogenic|benign
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000576513]|not specified [RCV000245075] Chr19:38706096 [GRCh38]
Chr19:39196736 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) single nucleotide variant not specified [RCV000252414] Chr19:38728009 [GRCh38]
Chr19:39218649 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) single nucleotide variant Mental retardation, autosomal dominant 14 [RCV001258270]|not provided [RCV000710417]|not specified [RCV000242813] Chr19:38717102 [GRCh38]
Chr19:39207742 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) single nucleotide variant not provided [RCV000955751]|not specified [RCV000247743] Chr19:38723993 [GRCh38]
Chr19:39214633 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000576718]|not specified [RCV000250045] Chr19:38706105 [GRCh38]
Chr19:39196745 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) single nucleotide variant not provided [RCV000973603]|not specified [RCV000252614] Chr19:38723996 [GRCh38]
Chr19:39214636 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1692+10C>G single nucleotide variant not provided [RCV000882777]|not specified [RCV000242985] Chr19:38724087 [GRCh38]
Chr19:39214727 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) single nucleotide variant not provided [RCV000957953]|not specified [RCV000245567] Chr19:38701093 [GRCh38]
Chr19:39191733 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) single nucleotide variant not provided [RCV000947940]|not specified [RCV000247950] Chr19:38724234 [GRCh38]
Chr19:39214874 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.398-16C>T single nucleotide variant not specified [RCV000248084] Chr19:38704918 [GRCh38]
Chr19:39195558 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) single nucleotide variant not specified [RCV000253054] Chr19:38706095 [GRCh38]
Chr19:39196735 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.912+3G>A single nucleotide variant not provided [RCV001367695] Chr19:38714564 [GRCh38]
Chr19:39205204 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2727C>T (p.Ser909=) single nucleotide variant not provided [RCV000593574] Chr19:38729423 [GRCh38]
Chr19:39220063 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) single nucleotide variant not provided [RCV000722653] Chr19:38706056 [GRCh38]
Chr19:39196696 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) deletion Focal segmental glomerulosclerosis 1 [RCV000735654] Chr19:38706067..38706069 [GRCh38]
Chr19:39196707..39196709 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000735721] Chr19:38718062 [GRCh38]
Chr19:39208702 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000735729] Chr19:38704994 [GRCh38]
Chr19:39195634 [GRCh37]
Chr19:19q13.2
likely pathogenic
GRCh37/hg19 19q13.2(chr19:39108036-39165341)x3 copy number gain See cases [RCV000447012] Chr19:39108036..39165341 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.738C>G (p.Ile246Met) single nucleotide variant not provided [RCV000434975] Chr19:38710261 [GRCh38]
Chr19:39200901 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr) single nucleotide variant not provided [RCV000428929] Chr19:38729337 [GRCh38]
Chr19:39219977 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.573_575del (p.Ser191_Trp192delinsArg) deletion not specified [RCV000479348] Chr19:38708116..38708118 [GRCh38]
Chr19:39198757..39198759 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.719T>C (p.Met240Thr) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000490712] Chr19:38709462 [GRCh38]
Chr19:39200102 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) single nucleotide variant not provided [RCV000710408] Chr19:38721671 [GRCh38]
Chr19:39212311 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=) single nucleotide variant not provided [RCV000710411] Chr19:38729046 [GRCh38]
Chr19:39219686 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=) single nucleotide variant not provided [RCV000710413] Chr19:38729348 [GRCh38]
Chr19:39219988 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) single nucleotide variant not provided [RCV000710410] Chr19:38728008 [GRCh38]
Chr19:39218648 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) single nucleotide variant not provided [RCV000710409] Chr19:38725729 [GRCh38]
Chr19:39216369 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) single nucleotide variant not provided [RCV000710414] Chr19:38729375 [GRCh38]
Chr19:39220015 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.738C>T (p.Ile246=) single nucleotide variant not provided [RCV000710415] Chr19:38710261 [GRCh38]
Chr19:39200901 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=) single nucleotide variant not provided [RCV000710416] Chr19:38714543 [GRCh38]
Chr19:39205183 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV001029837] Chr19:38724290 [GRCh38]
Chr19:39214930 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1677C>T (p.Thr559=) single nucleotide variant not provided [RCV000944955] Chr19:38724062 [GRCh38]
Chr19:39214702 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) single nucleotide variant not provided [RCV000881664] Chr19:38718001 [GRCh38]
Chr19:39208641 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.165C>G (p.Thr55=) single nucleotide variant not provided [RCV000976550] Chr19:38700602 [GRCh38]
Chr19:39191242 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.492G>A (p.Ser164=) single nucleotide variant not provided [RCV000904819] Chr19:38706051 [GRCh38]
Chr19:39196691 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.459C>T (p.Phe153=) single nucleotide variant not provided [RCV000983498] Chr19:38704995 [GRCh38]
Chr19:39195635 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV000786904] Chr19:38714481 [GRCh38]
Chr19:39205121 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_144691.4(CAPN12):c.2079C>T (p.His693=) single nucleotide variant not provided [RCV000910660] Chr19:38731019 [GRCh38]
Chr19:39221659 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=) single nucleotide variant not provided [RCV000899503] Chr19:38721587 [GRCh38]
Chr19:39212227 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=) single nucleotide variant not provided [RCV000924274] Chr19:38723686 [GRCh38]
Chr19:39214326 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV001029934] Chr19:38700673 [GRCh38]
Chr19:39191313 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_004924.6(ACTN4):c.306G>T (p.Gly102=) single nucleotide variant not provided [RCV000914929] Chr19:38701030 [GRCh38]
Chr19:39191670 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1443-4G>A single nucleotide variant not provided [RCV000996919] Chr19:38723610 [GRCh38]
Chr19:39214250 [GRCh37]
Chr19:19q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=) single nucleotide variant not provided [RCV000922399] Chr19:38724065 [GRCh38]
Chr19:39214705 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2578-5C>T single nucleotide variant not provided [RCV000897015] Chr19:38729269 [GRCh38]
Chr19:39219909 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.572+7G>A single nucleotide variant not provided [RCV000932891] Chr19:38706138 [GRCh38]
Chr19:39196778 [GRCh37]
Chr19:19q13.2
likely benign
NM_144691.4(CAPN12):c.2040C>T (p.Phe680=) single nucleotide variant not provided [RCV000957954] Chr19:38731141 [GRCh38]
Chr19:39221781 [GRCh37]
Chr19:19q13.2
benign
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=) single nucleotide variant not provided [RCV000912409] Chr19:38724457 [GRCh38]
Chr19:39215097 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3 copy number gain not provided [RCV001007047] Chr19:38512717..39291526 [GRCh37]
Chr19:19q13.13-13.2
uncertain significance
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp) single nucleotide variant Chronic kidney disease [RCV001171359] Chr19:38717101 [GRCh38]
Chr19:39207741 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2190+4C>T single nucleotide variant not provided [RCV001038955] Chr19:38725907 [GRCh38]
Chr19:39216547 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.190C>G (p.Leu64Val) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV001195748] Chr19:38700627 [GRCh38]
Chr19:39191267 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1480C>T (p.Arg494Trp) single nucleotide variant Corticosteroid response [RCV001261428] Chr19:38723651 [GRCh38]
Chr19:39214291 [GRCh37]
Chr19:19q13.2
drug response
NM_004924.6(ACTN4):c.170C>T (p.Thr57Met) single nucleotide variant Corticosteroid response [RCV001261429] Chr19:38700607 [GRCh38]
Chr19:39191247 [GRCh37]
Chr19:19q13.2
drug response
NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile) single nucleotide variant not provided [RCV001337921] Chr19:38724304 [GRCh38]
Chr19:39214944 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.65C>T (p.Ala22Val) single nucleotide variant Nephrotic syndrome [RCV001328112]|not provided [RCV001370037] Chr19:38647810 [GRCh38]
Chr19:39138450 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.675C>A (p.Asn225Lys) single nucleotide variant not provided [RCV001340423] Chr19:38709418 [GRCh38]
Chr19:39200058 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2590G>A (p.Ala864Thr) single nucleotide variant not provided [RCV001370077] Chr19:38729286 [GRCh38]
Chr19:39219926 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2373G>A (p.Lys791=) single nucleotide variant not provided [RCV001392368] Chr19:38727981 [GRCh38]
Chr19:39218621 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.932G>A (p.Arg311His) single nucleotide variant not provided [RCV001358915] Chr19:38717105 [GRCh38]
Chr19:39207745 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2191-3C>T single nucleotide variant not provided [RCV001296654] Chr19:38726954 [GRCh38]
Chr19:39217594 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1340C>T (p.Ser447Leu) single nucleotide variant not provided [RCV001323824] Chr19:38721586 [GRCh38]
Chr19:39212226 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.256C>G (p.Leu86Val) single nucleotide variant not provided [RCV001315506] Chr19:38700693 [GRCh38]
Chr19:39191333 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1443-4G>T single nucleotide variant not provided [RCV001338505] Chr19:38723610 [GRCh38]
Chr19:39214250 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) single nucleotide variant not provided [RCV001288422] Chr19:38729376 [GRCh38]
Chr19:39220016 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.1607G>A (p.Arg536His) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV001336750] Chr19:38723992 [GRCh38]
Chr19:39214632 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.1639G>A (p.Ala547Thr) single nucleotide variant not provided [RCV001346144] Chr19:38724024 [GRCh38]
Chr19:39214664 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2701T>C (p.Phe901Leu) single nucleotide variant not provided [RCV001304836] Chr19:38729397 [GRCh38]
Chr19:39220037 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2487A>G (p.Gln829=) single nucleotide variant not provided [RCV001356572] Chr19:38729064 [GRCh38]
Chr19:39219704 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.343G>A (p.Ala115Thr) single nucleotide variant not provided [RCV001337356] Chr19:38701067 [GRCh38]
Chr19:39191707 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2708C>T (p.Thr903Met) single nucleotide variant not provided [RCV001363953] Chr19:38729404 [GRCh38]
Chr19:39220044 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2374G>A (p.Ala792Thr) single nucleotide variant not provided [RCV001308806] Chr19:38727982 [GRCh38]
Chr19:39218622 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.2638A>G (p.Ile880Val) single nucleotide variant not provided [RCV001338692] Chr19:38729334 [GRCh38]
Chr19:39219974 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg) single nucleotide variant Focal segmental glomerulosclerosis 1 [RCV001329330] Chr19:38700612 [GRCh38]
Chr19:39191252 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_004924.6(ACTN4):c.1292-16T>C single nucleotide variant not provided [RCV001424607] Chr19:38721522 [GRCh38]
Chr19:39212162 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2419-17C>T single nucleotide variant not provided [RCV001434384] Chr19:38728979 [GRCh38]
Chr19:39219619 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=) single nucleotide variant not provided [RCV001425665] Chr19:38729103 [GRCh38]
Chr19:39219743 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2191-4G>A single nucleotide variant not provided [RCV001416184] Chr19:38726953 [GRCh38]
Chr19:39217593 [GRCh37]
Chr19:19q13.2
likely benign
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=) single nucleotide variant not provided [RCV001424082] Chr19:38729085 [GRCh38]
Chr19:39219725 [GRCh37]
Chr19:19q13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:166 AgrOrtholog
COSMIC ACTN4 COSMIC
Ensembl Genes ENSG00000130402 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282844 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000252699 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398393 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000411187 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000439497 UniProtKB/Swiss-Prot
  ENSP00000467190 UniProtKB/TrEMBL
  ENSP00000488962 UniProtKB/Swiss-Prot
  ENSP00000489220 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252699 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000390009 UniProtKB/Swiss-Prot
  ENST00000424234 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000440400 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000589528 UniProtKB/TrEMBL
  ENST00000634692 UniProtKB/Swiss-Prot
  ENST00000634960 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130402 GTEx
  ENSG00000282844 GTEx
HGNC ID HGNC:166 ENTREZGENE
Human Proteome Map ACTN4 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_1_Ca_BS 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:81 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 81 ENTREZGENE
OMIM 603278 OMIM
  604638 OMIM
Pfam EF-hand_7 UniProtKB/TrEMBL
  EFhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA23 PharmGKB
PROSITE ACTININ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_1 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 A0A0S2Z3C0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3G1_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3G9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3X3_HUMAN UniProtKB/TrEMBL
  ACTN4_HUMAN UniProtKB/Swiss-Prot
  F5GXS2_HUMAN UniProtKB/TrEMBL
  H7C144_HUMAN UniProtKB/TrEMBL
  K7EP19_HUMAN UniProtKB/TrEMBL
  O43707 ENTREZGENE
  Q96BG6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4K467 UniProtKB/Swiss-Prot
  D6PXK4 UniProtKB/Swiss-Prot
  O76048 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 ACTN4  actinin alpha 4  FSGS1  focal segmental glomerulosclerosis 1  Data Merged 737654 PROVISIONAL
2016-01-26 ACTN4  actinin alpha 4    actinin, alpha 4  Symbol and/or name change 5135510 APPROVED