| Gene Information | |
|---|---|
| Gene Name | ACTN2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 894 |
| Protein Names | Alpha-actinin-2 (Alpha-actinin skeletal muscle isoform 2) (F-actin cross-linking protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1292 ( ENSG00000077522 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | P35609 |
| Gene Card | ACTN2 |
| Uniprot ID | P35609 |
| Pfam | PF00307; PF08726; PF00435 |
| In ASD | no |
| Allosteric Prediction | yes (1.096927364) |
| Ortholog in Animals | Alpaca_ ACTN2 ( ortholog_one2one ) Dog_ ACTN2 ( ortholog_one2one ) GuineaPig_ ACTN2 ( ortholog_one2one ) Macaque_ ACTN2 ( ortholog_one2one ) Mouse_ Actn2 ( ortholog_one2one ) Pig_ ACTN2 ( ortholog_one2one ) Rat_ Actn2 ( ortholog_one2one ) Rabbit_ ACTN2 ( ortholog_one2one ) |
| Ohnologs | ACTN1, ACTN4 |
| Paralogs | ACTN3, DSP, SPTBN5, ACTN4, MICAL2, DMD, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, SYNE1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, MICAL1, SPTBN1, MACF1, ACTN1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | heart, skeletal.muscle, left.ventricle |
| Tissue Specificity | Expressed in both skeletal and cardiac muscle. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1H8B (NMR - ) 1HCI (X-ray 2.80A ) 1QUU (X-ray 2.50A ) 4D1E (X-ray 3.50A ) 5A36 (X-ray 2.00A ) 5A37 (X-ray 1.88A ) 5A38 (X-ray 1.90A ) 5A4B (X-ray 2.01A ) 6SWT (X-ray 1.20A ) 6TS3 (X-ray 1.28A ) 7A8T (X-ray 2.69A ) 7A8U (X-ray 3.80A ) 7B55 (X-ray 1.60A ) 7B56 (X-ray 1.45A ) 7B57 (X-ray 1.95A ) |
| DBSNP | rs121434525 rs727502886 rs1572114611 rs786205144 rs1572140109 rs200248944 rs200631005 rs35997569 rs786204951 rs1572148902 |
| Subcellular location [CC] | Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11171996, ECO:0000269|PubMed:19932097, ECO:0000269|PubMed:30701273}. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle. |
| Mouse PG classification | NA |
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