Q3ZC55

SS
Gene name
ACTN2
Protein name
Alpha-actinin-2
Names
Alpha-actinin skeletal muscle isoform 2, F-actin cross-linking protein
Species
Bos taurus (Bovine)
KEGG Pathway
bta:536607
EC number
Protein Class

Descriptions

ACTN2 is F-actin cross-linking protein. Interaction with the Z-repeat of Titin protein via the C-terminal region of ACTN2 targets ACTN2 to Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region between ABD and R1 acting as a pseudo-Z-repeat, and this region prevents the binding of ACTN2 to the Z-repeat of Titin protein.

Autoinhibitory domains (AIDs)

259-307 (Pseudo-Z-repeat) SS

Target domain

753-890 (EF-hand domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q3ZC55

Entry ID Method Resolution Chain Position Source
AF-Q3ZC55-F1 Predicted AlphaFoldDB

182 variants for Q3ZC55

Variant ID(s) Position Change Description Diseaes Association Provenance
rs434408565 43 T>A No Ensembl
rs453583821 43 T>N No Ensembl
rs475315885 44 F>I No Ensembl
rs435737287 46 A>T No Ensembl
rs437917996 105 D>G No Ensembl
rs458828806 121 E>D No Ensembl
rs477557962 122 I>L No Ensembl
rs461883766 180 W>* No Ensembl
rs444055366 183 G>D No Ensembl
rs473781526 183 G>S No Ensembl
rs463168968 184 L>I No Ensembl
rs478579293 199 D>V No Ensembl
rs516052768 224 D>H No Ensembl
rs446278881 294 L>S No Ensembl
rs527156226 298 R>W No Ensembl
rs464796726 300 T>P No Ensembl
rs435588638 303 W>C No Ensembl
rs475002873 303 W>G No Ensembl
rs476557367 306 N>H No Ensembl
rs458551500 306 N>K No Ensembl
rs443519468 306 N>S No Ensembl
rs470650294 307 R>P No Ensembl
rs481035500 308 T>N No Ensembl
rs459456596 308 T>S No Ensembl
rs448086155 309 P>T No Ensembl
rs463990508 311 K>N No Ensembl
rs482501298 313 M>T No Ensembl
rs446389661 319 K>T No Ensembl
rs435019328 320 L>R No Ensembl
rs464759857 320 L>V No Ensembl
rs446924700 322 D>V No Ensembl
rs468718127 329 K>M No Ensembl
rs435544025 330 H>Q No Ensembl
rs457316473 335 V>A No Ensembl
rs475833715 339 C>R No Ensembl
rs452328528 343 I>V No Ensembl
rs470562566 347 T>P No Ensembl
rs440970569 350 T>P No Ensembl
rs452901590 355 S>T No Ensembl
rs474740722 356 N>D No Ensembl
rs441728643 356 N>T No Ensembl
rs463344124 357 R>L No Ensembl
rs463344124 357 R>P No Ensembl
rs481865181 358 P>L No Ensembl
rs458440720 360 F>L No Ensembl
rs458440720 360 F>L No Ensembl
rs479966043 363 S>T No Ensembl
rs447052767 364 E>D No Ensembl
rs468782426 367 M>I No Ensembl
rs719457795 372 A>V No Ensembl
rs450864017 386 E>G No Ensembl
rs469159381 388 W>G No Ensembl
rs432956216 390 L>V No Ensembl
rs444900247 391 N>K No Ensembl
rs466648606 395 R>G No Ensembl
rs433533269 397 E>G No Ensembl
rs455230200 399 V>G No Ensembl
rs467417961 400 E>G No Ensembl
rs438258195 406 F>V No Ensembl
rs456715609 410 A>G No Ensembl
rs470935042 422 Q>K No Ensembl
rs434787163 424 L>F No Ensembl
rs453905410 425 L>Q No Ensembl
rs472554806 426 Q>* No Ensembl
rs442720015 431 S>A No Ensembl
rs442720015 431 S>P No Ensembl
rs476265534 433 T>A No Ensembl
rs476265534 433 T>S No Ensembl
rs458487857 434 L>Q No Ensembl
rs477011526 435 T>R No Ensembl
rs447261151 442 R>L No Ensembl
rs447261151 442 R>Q No Ensembl
rs481753410 445 E>A No Ensembl
rs1115388882 445 E>K No Ensembl
rs448721958 446 A>D No Ensembl
rs482417703 448 E>D No Ensembl
rs446119884 449 S>R No Ensembl
rs464673980 450 D>A No Ensembl
rs798684514 450 D>N No Ensembl
rs453256973 451 L>R No Ensembl
rs434749001 451 L>V No Ensembl
rs468582239 452 A>D No Ensembl
rs454684496 454 H>P No Ensembl
rs476177559 455 Q>* No Ensembl
rs443403237 456 D>A No Ensembl
rs452064666 457 R>S No Ensembl
rs440928569 458 V>G No Ensembl
rs481125418 460 Q>H No Ensembl
rs459339646 460 Q>K No Ensembl
rs464064315 463 A>P No Ensembl
rs464064315 463 A>S No Ensembl
rs446282807 464 I>F No Ensembl
rs446282807 464 I>L No Ensembl
rs464750792 464 I>S No Ensembl
rs464750792 464 I>T No Ensembl
rs468552687 465 A>D No Ensembl
rs446940432 465 A>P No Ensembl
rs454645696 466 Q>R No Ensembl
rs437088300 467 E>A No Ensembl
rs452177000 467 E>D No Ensembl
rs452177000 467 E>D No Ensembl
rs469933728 467 E>K No Ensembl
rs437088300 467 E>V No Ensembl
rs470813528 468 L>P No Ensembl
rs470813528 468 L>R No Ensembl
rs452932303 469 N>I No Ensembl
rs452932303 469 N>S No Ensembl
rs479825700 509 K>E No Ensembl
rs446782946 517 L>I No Ensembl
rs452064063 520 E>Q No Ensembl
rs470899368 532 M>I No Ensembl
rs462994543 556 T>I No Ensembl
rs482169175 557 A>D No Ensembl
rs464276491 560 Q>E No Ensembl
rs479616431 561 F>S No Ensembl
rs446523531 562 K>R No Ensembl
rs446523531 562 K>T No Ensembl
rs468289884 563 A>P No Ensembl
rs435305265 565 L>R No Ensembl
rs469043020 575 I>N No Ensembl
rs451993521 582 V>G No Ensembl
rs433427595 582 V>L No Ensembl
rs440590054 585 V>G No Ensembl
rs455804540 603 T>A No Ensembl
rs455804540 603 T>P No Ensembl
rs474089902 604 V>G No Ensembl
rs454111956 614 V>G No Ensembl
rs440284154 616 Q>H No Ensembl
rs473966122 617 L>H No Ensembl
rs462057441 617 L>I No Ensembl
rs462762780 618 V>G No Ensembl
rs478419240 620 I>T No Ensembl
rs459930819 620 I>V No Ensembl
rs467927855 623 Q>P No Ensembl
rs483346533 625 L>R No Ensembl
rs450245214 626 Q>H No Ensembl
rs465562202 629 L>R No Ensembl
rs454222694 630 A>G No Ensembl
rs432453186 630 A>P No Ensembl
rs436400270 631 R>S No Ensembl
rs454952177 632 Q>P No Ensembl
rs456313337 633 H>Q No Ensembl
rs444333944 633 H>R No Ensembl
rs474111607 633 H>Y No Ensembl
rs471578490 635 N>D No Ensembl
rs438421650 635 N>T No Ensembl
rs460090507 636 E>* No Ensembl
rs441100346 636 E>D No Ensembl
rs478382035 637 R>G No Ensembl
rs442352740 637 R>L No Ensembl
rs483308693 638 L>M No Ensembl
rs450346173 638 L>P No Ensembl
rs483308693 638 L>V No Ensembl
rs477663571 640 R>S No Ensembl
rs466244988 641 Q>E No Ensembl
rs466244988 641 Q>K No Ensembl
rs436514641 642 F>L No Ensembl
rs454913588 646 A>D No Ensembl
rs437847707 647 N>I No Ensembl
rs471571472 649 I>V No Ensembl
rs453806136 650 G>W No Ensembl
rs442517920 651 P>A No Ensembl
rs457932246 669 G>A No Ensembl
rs450447338 729 T>A No Ensembl
rs468999388 731 I>M No Ensembl
rs445514563 738 V>G No Ensembl
rs434174511 751 T>A No Ensembl
rs455894835 758 F>L No Ensembl
rs467877810 760 A>V No Ensembl
rs438128786 763 N>T No Ensembl
rs453604470 801 V>G No Ensembl
rs480903258 845 I>F No Ensembl
rs451107063 845 I>S No Ensembl
rs469372537 846 L>V No Ensembl
rs451826733 854 L>V No Ensembl
rs434122555 857 D>E No Ensembl
rs455675638 858 Q>P No Ensembl
rs445050530 861 Y>F No Ensembl
rs457251968 864 K>N No Ensembl
rs439409309 878 A>P No Ensembl
rs457971164 892 S>C No Ensembl
rs479554099 892 S>T No Ensembl

No associated diseases with Q3ZC55

10 regional properties for Q3ZC55

Type Name Position InterPro Accession
conserved_site Actinin-type actin-binding domain, conserved site 40 - 49 IPR001589-1
conserved_site Actinin-type actin-binding domain, conserved site 114 - 138 IPR001589-2
domain Calponin homology domain 38 - 142 IPR001715-1
domain Calponin homology domain 151 - 257 IPR001715-2
repeat Spectrin repeat 282 - 390 IPR002017-1
repeat Spectrin repeat 401 - 505 IPR002017-2
repeat Spectrin repeat 517 - 627 IPR002017-3
repeat Spectrin repeat 638 - 739 IPR002017-4
domain EF-hand domain 753 - 824 IPR002048
domain EF-hand, Ca insensitive 824 - 890 IPR014837

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril, sarcomere, Z line
  • Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Z disc Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

2 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
calcium ion binding Binding to a calcium ion (Ca2+).

2 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
muscle cell development The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate.

17 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A5D7D1 ACTN4 Alpha-actinin-4 Bos taurus (Bovine) SS
Q0III9 ACTN3 Alpha-actinin-3 Bos taurus (Bovine) SS
Q3B7N2 ACTN1 Alpha-actinin-1 Bos taurus (Bovine) SS
Q90734 ACTN4 Alpha-actinin-4 Gallus gallus (Chicken) SS
P05094 ACTN1 Alpha-actinin-1 Gallus gallus (Chicken) SS
P20111 ACTN2 Alpha-actinin-2 Gallus gallus (Chicken) SS
P18091 Actn Alpha-actinin, sarcomeric Drosophila melanogaster (Fruit fly) SS
Q08043 ACTN3 Alpha-actinin-3 Homo sapiens (Human) SS
O43707 ACTN4 Alpha-actinin-4 Homo sapiens (Human) SS
P12814 ACTN1 Alpha-actinin-1 Homo sapiens (Human) SS
P35609 ACTN2 Alpha-actinin-2 Homo sapiens (Human) EV
O88990 Actn3 Alpha-actinin-3 Mus musculus (Mouse) SS
P57780 Actn4 Alpha-actinin-4 Mus musculus (Mouse) SS
Q7TPR4 Actn1 Alpha-actinin-1 Mus musculus (Mouse) SS
Q9JI91 Actn2 Alpha-actinin-2 Mus musculus (Mouse) SS
Q9Z1P2 Actn1 Alpha-actinin-1 Rattus norvegicus (Rat) SS
Q9QXQ0 Actn4 Alpha-actinin-4 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MNQIEPGVQY NYVYEDDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
70 80 90 100 110 120
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
130 140 150 160 170 180
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
190 200 210 220 230 240
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
250 260 270 280 290 300
DERAIMTYVS CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
310 320 330 340 350 360
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
370 380 390 400 410 420
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERVE HLAEKFRQKA STHETWAYGK
430 440 450 460 470 480
EQILLQKDYE SSTLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
490 500 510 520 530 540
DRCQKICDQW DRLGTLTQKR REALERTEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
550 560 570 580 590 600
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSILAIQN EVEKVIQSYS IRISSSNPYS
610 620 630 640 650 660
TVTVDEIRSK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
670 680 690 700 710 720
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
730 740 750 760 770 780
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
790 800 810 820 830 840
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
850 860 870 880 890
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YTAFSSALYG ESDL