ACTN2 (actinin alpha 2) - Rat Genome Database

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Pathways
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Gene: ACTN2 (actinin alpha 2) Sus scrofa
Analyze
Symbol: ACTN2
Name: actinin alpha 2
RGD ID: 14216399
Description: ENCODES a protein that exhibits structural constituent of postsynaptic actin cytoskeleton (ortholog); INVOLVED IN actin cytoskeleton organization (inferred); actin filament uncapping (inferred); cardiac muscle cell development (inferred); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); cardiomyopathy (ortholog); catecholaminergic polymorphic ventricular tachycardia (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynaptic actin cytoskeleton (ortholog); postsynaptic density membrane (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: alpha-actinin-2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11454,670,727 - 54,742,717 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21458,645,069 - 58,717,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References
Additional References at PubMed
PMID:14681463   PMID:17145712   PMID:17407547   PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
ACTN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11454,670,727 - 54,742,717 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21458,645,069 - 58,717,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,686,499 - 236,764,631 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,664,141 - 236,764,631 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,849,799 - 236,927,931 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361234,916,422 - 234,993,863 (+)NCBINCBI36Build 36hg18NCBI36
Build 341233,175,848 - 233,253,281NCBI
Celera1210,097,994 - 210,176,743 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1207,337,725 - 207,384,040 (+)NCBIHuRef
CHM1_11238,123,313 - 238,199,388 (+)NCBICHM1_1
T2T-CHM13v2.01236,087,386 - 236,175,684 (+)NCBIT2T-CHM13v2.0
Actn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391312,284,312 - 12,355,613 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1312,284,312 - 12,355,641 (-)EnsemblGRCm39 Ensembl
GRCm381312,269,426 - 12,340,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1312,269,426 - 12,340,760 (-)EnsemblGRCm38mm10GRCm38
MGSCv371312,361,693 - 12,432,999 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361312,323,759 - 12,395,065 (-)NCBIMGSCv36mm8
Celera1312,189,170 - 12,257,137 (-)NCBICelera
Cytogenetic Map13A1NCBI
cM Map134.54NCBI
Actn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81762,835,055 - 62,902,331 (+)NCBIGRCr8
mRatBN7.21758,143,334 - 58,210,622 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1758,142,625 - 58,210,622 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1761,331,681 - 61,398,784 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01765,334,806 - 65,401,909 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01759,489,000 - 59,556,099 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01766,304,530 - 66,397,647 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1766,304,501 - 66,397,653 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01768,050,946 - 68,143,522 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41768,705,160 - 68,773,261 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11768,681,756 - 68,784,094 (+)NCBI
Celera1762,323,048 - 62,390,681 (-)NCBICelera
Cytogenetic Map17q12.1NCBI
Actn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554923,483,511 - 3,555,190 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554923,483,704 - 3,554,831 (-)NCBIChiLan1.0ChiLan1.0
ACTN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,395,471 - 12,501,244 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,611,346 - 12,711,988 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01212,245,742 - 212,323,387 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11217,276,899 - 217,321,103 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1217,272,597 - 217,321,103 (+)Ensemblpanpan1.1panPan2
ACTN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.143,348,529 - 3,415,275 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl43,348,449 - 3,415,273 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha43,395,551 - 3,461,987 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.043,368,361 - 3,435,149 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl43,366,635 - 3,434,981 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.143,368,494 - 3,434,944 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.043,498,915 - 3,565,693 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.043,719,762 - 3,786,237 (-)NCBIUU_Cfam_GSD_1.0
Actn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934440,023,215 - 40,083,168 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648416,186,642 - 16,248,400 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648416,186,844 - 16,248,394 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12573,827,900 - 73,904,516 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2573,827,874 - 73,905,146 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605575,920,990 - 76,003,746 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477513,916,883 - 13,989,153 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477513,917,215 - 13,989,093 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACTN2
1808 total Variants

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 hemolymphoid system musculoskeletal system nervous system renal system reproductive system respiratory system
High
Medium 2 2 2
Low 7 2 3 5 23 2 3 3
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001243666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AEMK02000096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK351083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK398779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN107101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY405095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW037425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW231494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW237844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW269553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW270716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW310579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW445404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW593430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EW675477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FS703735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GFLN01005105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSSSCT00000011106   ⟹   ENSSSCP00000010818
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000023830   ⟹   ENSSSCP00000021816
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000037537   ⟹   ENSSSCP00000047684
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000061348   ⟹   ENSSSCP00000056168
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,640 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000066734   ⟹   ENSSSCP00000066718
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000069068   ⟹   ENSSSCP00000065015
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: ENSSSCT00000085409   ⟹   ENSSSCP00000059726
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl1454,666,623 - 54,742,778 (-)Ensembl
RefSeq Acc Id: NM_001243666   ⟹   NP_001230595
RefSeq Status: VALIDATED
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.11454,670,727 - 54,742,717 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001230595   ⟸   NM_001243666
- UniProtKB: F1RHL9 (UniProtKB/TrEMBL),   A0A8D0XC36 (UniProtKB/TrEMBL),   A0A4X1UNV2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSSSCP00000056168   ⟸   ENSSSCT00000061348
RefSeq Acc Id: ENSSSCP00000010818   ⟸   ENSSSCT00000011106
RefSeq Acc Id: ENSSSCP00000065015   ⟸   ENSSSCT00000069068
RefSeq Acc Id: ENSSSCP00000066718   ⟸   ENSSSCT00000066734
RefSeq Acc Id: ENSSSCP00000047684   ⟸   ENSSSCT00000037537
RefSeq Acc Id: ENSSSCP00000059726   ⟸   ENSSSCT00000085409
RefSeq Acc Id: ENSSSCP00000021816   ⟸   ENSSSCT00000023830
Protein Domains
Calponin-homology (CH)   EF-hand


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSSCG00000010144 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015078358 UniProtKB/TrEMBL
  ENSSSCG00025049817 UniProtKB/TrEMBL
  ENSSSCG00030051377 UniProtKB/TrEMBL
  ENSSSCG00035034126 UniProtKB/TrEMBL
  ENSSSCG00040026416 UniProtKB/TrEMBL
  ENSSSCG00045010446 UniProtKB/TrEMBL
  ENSSSCG00050056201 UniProtKB/TrEMBL
  ENSSSCG00055011986 UniProtKB/TrEMBL
  ENSSSCG00060018310 UniProtKB/TrEMBL
  ENSSSCG00065028386 UniProtKB/TrEMBL
  ENSSSCG00070018084 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000011106 ENTREZGENE
  ENSSSCT00000011106.5 UniProtKB/TrEMBL
  ENSSSCT00000023830.4 UniProtKB/TrEMBL
  ENSSSCT00000037537.3 UniProtKB/TrEMBL
  ENSSSCT00000061348.3 UniProtKB/TrEMBL
  ENSSSCT00000066734.2 UniProtKB/TrEMBL
  ENSSSCT00000069068.2 UniProtKB/TrEMBL
  ENSSSCT00000085409.2 UniProtKB/TrEMBL
  ENSSSCT00015106313.1 UniProtKB/TrEMBL
  ENSSSCT00025068045.1 UniProtKB/TrEMBL
  ENSSSCT00030071629.1 UniProtKB/TrEMBL
  ENSSSCT00035045239.1 UniProtKB/TrEMBL
  ENSSSCT00040035413.1 UniProtKB/TrEMBL
  ENSSSCT00045017717.1 UniProtKB/TrEMBL
  ENSSSCT00050076679.1 UniProtKB/TrEMBL
  ENSSSCT00055023733.1 UniProtKB/TrEMBL
  ENSSSCT00060024579.1 UniProtKB/TrEMBL
  ENSSSCT00065038283.1 UniProtKB/TrEMBL
  ENSSSCT00070035741.1 UniProtKB/TrEMBL
  ENSSSCT00070035754.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/TrEMBL
  1.20.58.60 UniProtKB/TrEMBL
  EF-hand UniProtKB/TrEMBL
InterPro Actinin_actin-bd_CS UniProtKB/TrEMBL
  CH-domain UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/TrEMBL
  EF-hand_Ca_insen UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/TrEMBL
  Spectrin_repeat UniProtKB/TrEMBL
KEGG Report ssc:100157406 UniProtKB/TrEMBL
NCBI Gene ACTN2 ENTREZGENE
PANTHER ALPHA-ACTININ-2 UniProtKB/TrEMBL
  SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/TrEMBL
  EFhand_Ca_insen UniProtKB/TrEMBL
  PF00307 UniProtKB/TrEMBL
  Spectrin UniProtKB/TrEMBL
PROSITE ACTININ_1 UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/TrEMBL
  PS50021 UniProtKB/TrEMBL
SMART EFh UniProtKB/TrEMBL
  efhand_Ca_insen UniProtKB/TrEMBL
  SM00033 UniProtKB/TrEMBL
  SPEC UniProtKB/TrEMBL
Superfamily-SCOP Spectrin repeat UniProtKB/TrEMBL
  SSF47473 UniProtKB/TrEMBL
  SSF47576 UniProtKB/TrEMBL
UniProt A0A287AU97_PIG UniProtKB/TrEMBL
  A0A287BIH3_PIG UniProtKB/TrEMBL
  A0A4X1UMI7_PIG UniProtKB/TrEMBL
  A0A4X1UNV2 ENTREZGENE, UniProtKB/TrEMBL
  A0A5G2QLU2_PIG UniProtKB/TrEMBL
  A0A5G2QN32_PIG UniProtKB/TrEMBL
  A0A5G2QP94_PIG UniProtKB/TrEMBL
  A0A8D0XC36 ENTREZGENE, UniProtKB/TrEMBL
  F1RHL9 ENTREZGENE, UniProtKB/TrEMBL
  I3LCP0_PIG UniProtKB/TrEMBL
VGNC ID VGNC:85046 ENTREZGENE