UniProtKB - P35609 (ACTN2_HUMAN)
Alpha-actinin-2
ACTN2
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 766 – 777 | 1; possibly ancestralAdd BLAST | 12 | |
Calcium bindingi | 802 – 813 | 2; possibly ancestralAdd BLAST | 12 |
GO - Molecular functioni
- actin filament binding Source: Ensembl
- calcium ion binding Source: InterPro
- cytoskeletal protein binding Source: UniProtKB
- FATZ binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- integrin binding Source: UniProtKB
- ion channel binding Source: UniProtKB
- LIM domain binding Source: Ensembl
- phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
- protein domain specific binding Source: UniProtKB
- structural constituent of muscle Source: ProtInc
- thyroid hormone receptor coactivator activity Source: Ensembl
- titin binding Source: BHF-UCL
- titin Z domain binding Source: UniProtKB
GO - Biological processi
- actin filament uncapping Source: UniProtKB
- cardiac muscle cell development Source: Ensembl
- cell adhesion Source: UniProtKB
- focal adhesion assembly Source: UniProtKB
- MAPK cascade Source: Reactome
- microspike assembly Source: UniProtKB
- muscle filament sliding Source: Reactome
- negative regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
- negative regulation of potassium ion transport Source: BHF-UCL
- negative regulation of protein localization to cell surface Source: BHF-UCL
- phospholipase C-activating angiotensin-activated signaling pathway Source: UniProtKB
- platelet degranulation Source: Reactome
- positive regulation of cation channel activity Source: UniProtKB
- positive regulation of endocytic recycling Source: UniProtKB
- positive regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
- positive regulation of potassium ion transport Source: BHF-UCL
- protein localization to plasma membrane Source: UniProtKB
- regulation of apoptotic process Source: UniProtKB
- regulation of membrane potential Source: BHF-UCL
- regulation of NMDA receptor activity Source: Reactome
- sarcomere organization Source: UniProtKB
Keywordsi
Molecular function | Actin-binding |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P35609 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-373753, Nephrin family interactions R-HSA-390522, Striated Muscle Contraction R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
Protein family/group databases
TCDBi | 8.A.66.1.3, the dystrophin (dystrophin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Alpha-actinin-2Alternative name(s): Alpha-actinin skeletal muscle isoform 2 F-actin cross-linking protein |
Gene namesi | Name:ACTN2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:164, ACTN2 |
MIMi | 102573, gene |
neXtProti | NX_P35609 |
VEuPathDBi | HostDB:ENSG00000077522.12 |
Subcellular locationi
Other locations
- Z line 3 Publications
Note: Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Cytoskeleton
- actin filament Source: ProtInc
- cortical actin cytoskeleton Source: Ensembl
- cytoskeleton Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
Plasma Membrane
- postsynaptic density membrane Source: Ensembl
Other locations
- dendritic spine Source: UniProtKB
- filopodium Source: UniProtKB
- focal adhesion Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- platelet alpha granule lumen Source: Reactome
- postsynaptic density, intracellular component Source: Ensembl
- pseudopodium Source: UniProtKB
- Z disc Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071970 | 119 | A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar. | 1 | |
Natural variantiVAR_074292 | 228 | M → T in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786205144EnsemblClinVar. | 1 | |
Natural variantiVAR_071971 | 495 | T → M in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200248944EnsemblClinVar. | 1 | |
Natural variantiVAR_071972 | 583 | E → A in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200631005EnsemblClinVar. | 1 | |
Natural variantiVAR_071973 | 628 | E → G in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786204951EnsemblClinVar. | 1 |
Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054628 | 9 | Q → R in CMD1AA. 1 PublicationCorresponds to variant dbSNP:rs121434525EnsemblClinVar. | 1 | |
Natural variantiVAR_071970 | 119 | A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar. | 1 |
Myopathy, congenital, with structured cores and Z-line abnormalities (MYOCOZ)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083366 | 727 | L → R in MYOCOZ. 1 Publication | 1 | |
Natural variantiVAR_083367 | 732 – 742 | Missing in MYOCOZ; unknown pathological significance. 1 PublicationAdd BLAST | 11 |
Myopathy, distal, 6, adult onset, autosomal dominant (MPD6)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083364 | 131 | L → P in MPD6; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083365 | 487 | C → R in MPD6. 1 Publication | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 88 |
GeneReviewsi | ACTN2 |
MalaCardsi | ACTN2 |
MIMi | 612158, phenotype 618654, phenotype 618655, phenotype |
OpenTargetsi | ENSG00000077522 |
Orphaneti | 154, Familial isolated dilated cardiomyopathy 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA25 |
Miscellaneous databases
Pharosi | P35609, Tbio |
Genetic variation databases
BioMutai | ACTN2 |
DMDMi | 543742 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073435 | 1 – 894 | Alpha-actinin-2Add BLAST | 894 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 237 | PhosphothreonineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P35609 |
jPOSTi | P35609 |
MassIVEi | P35609 |
MaxQBi | P35609 |
PaxDbi | P35609 |
PeptideAtlasi | P35609 |
PRIDEi | P35609 |
ProteomicsDBi | 3424 55100 [P35609-1] |
PTM databases
iPTMneti | P35609 |
MetOSitei | P35609 |
PhosphoSitePlusi | P35609 |
SwissPalmi | P35609 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000077522, Expressed in muscle of leg and 189 other tissues |
ExpressionAtlasi | P35609, baseline and differential |
Genevisiblei | P35609, HS |
Organism-specific databases
HPAi | ENSG00000077522, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
Interactioni
Subunit structurei
Homodimer; antiparallel. Also forms heterodimers with ACTN3.
Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3.
Interacts via its C-terminal region with the LDB3 PDZ domain.
Interacts with XIRP2.
Interacts with DST isoform 1 (via N-terminus).
Interacts with PARVB.
Interacts with SYNPO2.
8 PublicationsBinary interactionsi
P35609
GO - Molecular functioni
- actin filament binding Source: Ensembl
- cytoskeletal protein binding Source: UniProtKB
- FATZ binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- integrin binding Source: UniProtKB
- ion channel binding Source: UniProtKB
- LIM domain binding Source: Ensembl
- protein domain specific binding Source: UniProtKB
- titin binding Source: BHF-UCL
- titin Z domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 106603, 104 interactors |
DIPi | DIP-383N |
IntActi | P35609, 86 interactors |
MINTi | P35609 |
STRINGi | 9606.ENSP00000443495 |
Miscellaneous databases
RNActi | P35609, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P35609 |
SMRi | P35609 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P35609 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 38 – 142 | Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST | 105 | |
Domaini | 151 – 257 | Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST | 107 | |
Repeati | 281 – 391 | Spectrin 1Add BLAST | 111 | |
Repeati | 401 – 506 | Spectrin 2Add BLAST | 106 | |
Repeati | 516 – 627 | Spectrin 3Add BLAST | 112 | |
Repeati | 637 – 740 | Spectrin 4Add BLAST | 104 | |
Domaini | 753 – 788 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 789 – 824 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 254 | Actin-bindingAdd BLAST | 254 |
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0035, Eukaryota |
GeneTreei | ENSGT00940000153968 |
HOGENOMi | CLU_005217_1_1_1 |
InParanoidi | P35609 |
OMAi | CIMRMPP |
OrthoDBi | 543832at2759 |
PhylomeDBi | P35609 |
TreeFami | TF352676 |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00051, EFh, 1 hit |
Gene3Di | 1.10.418.10, 2 hits |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR002048, EF_hand_dom IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF00307, CH, 2 hits PF08726, EFhand_Ca_insen, 1 hit PF00435, Spectrin, 4 hits |
SMARTi | View protein in SMART SM00033, CH, 2 hits SM00054, EFh, 2 hits SM00150, SPEC, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 1 hit PS00020, ACTININ_2, 1 hit PS50021, CH, 2 hits PS50222, EF_HAND_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS
60 70 80 90 100
HLRKAGTQIE NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV
110 120 130 140 150
NKALDYIASK GVKLVSIGAE EIVDGNVKMT LGMIWTIILR FAIQDISVEE
160 170 180 190 200
TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW KDGLGLCALI HRHRPDLIDY
210 220 230 240 250
SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP DERAIMTYVS
260 270 280 290 300
CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
310 320 330 340 350
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT
360 370 380 390 400
KLRISNRPAF MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE
410 420 430 440 450
HLAEKFRQKA STHETWAYGK EQILLQKDYE SASLTEVRAL LRKHEAFESD
460 470 480 490 500
LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN DRCQKICDQW DRLGTLTQKR
510 520 530 540 550
REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ DMFIVHSIEE
560 570 580 590 600
IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
610 620 630 640 650
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG
660 670 680 690 700
PWIQNKMEEI ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ
710 720 730 740 750
LIQEALVFDN KHTNYTMEHI RVGWELLLTT IARTINEVET QILTRDAKGI
760 770 780 790 800
TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA CLISMGYDLG EAEFARIMTL
810 820 830 840 850
VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS DKPYILAEEL
860 870 880 890
RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C1A0 | A0A494C1A0_HUMAN | Alpha-actinin-2 | ACTN2 | 858 | Annotation score: | ||
F6THM6 | F6THM6_HUMAN | Alpha-actinin-2 | ACTN2 | 686 | Annotation score: | ||
A0A494C060 | A0A494C060_HUMAN | Alpha-actinin-2 | ACTN2 | 588 | Annotation score: | ||
A0A494C033 | A0A494C033_HUMAN | Alpha-actinin-2 | ACTN2 | 182 | Annotation score: | ||
A0A494C0Q3 | A0A494C0Q3_HUMAN | Alpha-actinin-2 | ACTN2 | 131 | Annotation score: | ||
A0A494C166 | A0A494C166_HUMAN | Alpha-actinin-2 | ACTN2 | 263 | Annotation score: | ||
A0A494C031 | A0A494C031_HUMAN | Alpha-actinin-2 | ACTN2 | 61 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054628 | 9 | Q → R in CMD1AA. 1 PublicationCorresponds to variant dbSNP:rs121434525EnsemblClinVar. | 1 | |
Natural variantiVAR_071970 | 119 | A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar. | 1 | |
Natural variantiVAR_083364 | 131 | L → P in MPD6; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_074292 | 228 | M → T in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786205144EnsemblClinVar. | 1 | |
Natural variantiVAR_083365 | 487 | C → R in MPD6. 1 Publication | 1 | |
Natural variantiVAR_071971 | 495 | T → M in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200248944EnsemblClinVar. | 1 | |
Natural variantiVAR_071972 | 583 | E → A in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200631005EnsemblClinVar. | 1 | |
Natural variantiVAR_033487 | 604 | M → V1 PublicationCorresponds to variant dbSNP:rs35997569EnsemblClinVar. | 1 | |
Natural variantiVAR_071973 | 628 | E → G in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786204951EnsemblClinVar. | 1 | |
Natural variantiVAR_083366 | 727 | L → R in MYOCOZ. 1 Publication | 1 | |
Natural variantiVAR_083367 | 732 – 742 | Missing in MYOCOZ; unknown pathological significance. 1 PublicationAdd BLAST | 11 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054923 | 234 – 261 | IVNTP…AGAEQ → LVYTARPDERAIMTYVSCYY HAFAGAQK in isoform 2. 1 PublicationAdd BLAST | 28 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86406 mRNA Translation: AAA51583.1 M86804 Genomic DNA Translation: AAA51584.1 AJ249756 , AJ249757, AJ249758, AJ249759, AJ249760, AJ249761, AJ249762, AJ249763, AJ249764, AJ249765, AJ249766, AJ249767, AJ249768, AJ249769, AJ249770, AJ249771, AJ249772, AJ249773, AJ249774, AJ249775, AJ249776 Genomic DNA Translation: CAB61269.1 AK315250 mRNA Translation: BAG37672.1 AL359185 Genomic DNA No translation available. AL359921 Genomic DNA No translation available. CH471098 Genomic DNA Translation: EAW70064.1 CH471098 Genomic DNA Translation: EAW70065.1 BC047901 mRNA Translation: AAH47901.2 BC051770 mRNA Translation: AAH51770.2 |
CCDSi | CCDS1613.1 [P35609-1] CCDS60455.1 [P35609-2] |
PIRi | A40199, FAHUA2 |
RefSeqi | NP_001094.1, NM_001103.3 [P35609-1] NP_001265272.1, NM_001278343.1 [P35609-2] NP_001265273.1, NM_001278344.1 |
Genome annotation databases
Ensembli | ENST00000366578; ENSP00000355537; ENSG00000077522 [P35609-1] ENST00000542672; ENSP00000443495; ENSG00000077522 [P35609-2] |
GeneIDi | 88 |
KEGGi | hsa:88 |
UCSCi | uc001hyf.4, human [P35609-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86406 mRNA Translation: AAA51583.1 M86804 Genomic DNA Translation: AAA51584.1 AJ249756 , AJ249757, AJ249758, AJ249759, AJ249760, AJ249761, AJ249762, AJ249763, AJ249764, AJ249765, AJ249766, AJ249767, AJ249768, AJ249769, AJ249770, AJ249771, AJ249772, AJ249773, AJ249774, AJ249775, AJ249776 Genomic DNA Translation: CAB61269.1 AK315250 mRNA Translation: BAG37672.1 AL359185 Genomic DNA No translation available. AL359921 Genomic DNA No translation available. CH471098 Genomic DNA Translation: EAW70064.1 CH471098 Genomic DNA Translation: EAW70065.1 BC047901 mRNA Translation: AAH47901.2 BC051770 mRNA Translation: AAH51770.2 |
CCDSi | CCDS1613.1 [P35609-1] CCDS60455.1 [P35609-2] |
PIRi | A40199, FAHUA2 |
RefSeqi | NP_001094.1, NM_001103.3 [P35609-1] NP_001265272.1, NM_001278343.1 [P35609-2] NP_001265273.1, NM_001278344.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1H8B | NMR | - | A | 822-894 | [»] | |
1HCI | X-ray | 2.80 | A/B | 274-746 | [»] | |
1QUU | X-ray | 2.50 | A | 391-637 | [»] | |
4D1E | X-ray | 3.50 | A | 19-894 | [»] | |
5A36 | X-ray | 2.00 | A/B | 19-266 | [»] | |
5A37 | X-ray | 1.88 | A/B | 19-266 | [»] | |
5A38 | X-ray | 1.90 | A/B | 19-266 | [»] | |
5A4B | X-ray | 2.01 | A/B | 19-266 | [»] | |
6SWT | X-ray | 1.20 | A | 19-270 | [»] | |
BMRBi | P35609 | |||||
SMRi | P35609 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106603, 104 interactors |
DIPi | DIP-383N |
IntActi | P35609, 86 interactors |
MINTi | P35609 |
STRINGi | 9606.ENSP00000443495 |
Protein family/group databases
TCDBi | 8.A.66.1.3, the dystrophin (dystrophin) family |
PTM databases
iPTMneti | P35609 |
MetOSitei | P35609 |
PhosphoSitePlusi | P35609 |
SwissPalmi | P35609 |
Genetic variation databases
BioMutai | ACTN2 |
DMDMi | 543742 |
Proteomic databases
EPDi | P35609 |
jPOSTi | P35609 |
MassIVEi | P35609 |
MaxQBi | P35609 |
PaxDbi | P35609 |
PeptideAtlasi | P35609 |
PRIDEi | P35609 |
ProteomicsDBi | 3424 55100 [P35609-1] |
Protocols and materials databases
Antibodypediai | 1323, 366 antibodies |
Genome annotation databases
Ensembli | ENST00000366578; ENSP00000355537; ENSG00000077522 [P35609-1] ENST00000542672; ENSP00000443495; ENSG00000077522 [P35609-2] |
GeneIDi | 88 |
KEGGi | hsa:88 |
UCSCi | uc001hyf.4, human [P35609-1] |
Organism-specific databases
CTDi | 88 |
DisGeNETi | 88 |
GeneCardsi | ACTN2 |
GeneReviewsi | ACTN2 |
HGNCi | HGNC:164, ACTN2 |
HPAi | ENSG00000077522, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
MalaCardsi | ACTN2 |
MIMi | 102573, gene 612158, phenotype 618654, phenotype 618655, phenotype |
neXtProti | NX_P35609 |
OpenTargetsi | ENSG00000077522 |
Orphaneti | 154, Familial isolated dilated cardiomyopathy 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA25 |
VEuPathDBi | HostDB:ENSG00000077522.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0035, Eukaryota |
GeneTreei | ENSGT00940000153968 |
HOGENOMi | CLU_005217_1_1_1 |
InParanoidi | P35609 |
OMAi | CIMRMPP |
OrthoDBi | 543832at2759 |
PhylomeDBi | P35609 |
TreeFami | TF352676 |
Enzyme and pathway databases
PathwayCommonsi | P35609 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-373753, Nephrin family interactions R-HSA-390522, Striated Muscle Contraction R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
Miscellaneous databases
BioGRID-ORCSi | 88, 8 hits in 875 CRISPR screens |
ChiTaRSi | ACTN2, human |
EvolutionaryTracei | P35609 |
GeneWikii | Actinin,_alpha_2 |
GenomeRNAii | 88 |
Pharosi | P35609, Tbio |
PROi | PR:P35609 |
RNActi | P35609, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000077522, Expressed in muscle of leg and 189 other tissues |
ExpressionAtlasi | P35609, baseline and differential |
Genevisiblei | P35609, HS |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00051, EFh, 1 hit |
Gene3Di | 1.10.418.10, 2 hits |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR002048, EF_hand_dom IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF00307, CH, 2 hits PF08726, EFhand_Ca_insen, 1 hit PF00435, Spectrin, 4 hits |
SMARTi | View protein in SMART SM00033, CH, 2 hits SM00054, EFh, 2 hits SM00150, SPEC, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 1 hit PS00020, ACTININ_2, 1 hit PS50021, CH, 2 hits PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ACTN2_HUMAN | |
Accessioni | P35609Primary (citable) accession number: P35609 Secondary accession number(s): B1ANE4 Q86TI8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | February 10, 2021 | |
This is version 225 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families