Table 4 Muscular activity

atp2a1

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

-

Muscle contraction

Abnormal locomotion

[51]

atp2a2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2a

-

regulation of heart contraction

Abnormal heart development

[31]

casq1a

calsequestrin 1a

-

Calcium homeostasis

jph1a

junctophilin 1a

-

structural constituent of muscle

jph1b

junctophilin 1b

-

structural constituent of muscle

myl2a

myosin, light chain 2a, regulatory, cardiac, slow

-

Striated Muscle Contraction

mybpc2a

myosin binding protein C, fast type a

-

Striated Muscle Contraction

mybpc3

myosin binding protein C, cardiac

-

Cardiac muscle contraction

Abnormal heart development

[52]

myhb

myosin, heavy chain b

-

Striated Muscle Contraction

myl10

myosin, light chain 10, regulatory

-

Regulation of actin cytoskeleton; Focal adhesion

myl12.2

myosin, light chain 12, genome duplicate 2

-

Striated Muscle Contraction

mylk2

myosin light chain kinase 2

-

Focal adhesion; Regulation of actin cytoskeleton

mylk3

myosin light chain kinase 3

-

Focal adhesion; Regulation of actin cytoskeleton

Cardiac sarcomere disruption

[53]

mylpfb

myosin light chain, phosphorylatable, fast skeletal muscle b

-

Focal adhesion; Regulation of actin cytoskeleton

myo18ab

myosin XVIIIAb

-

Signaling by FGFR

myoz3a

myozenin 3a

-

Calcineurin signaling

nexn

nexilin (F actin binding protein)

-

cardiac muscle fiber development

parvb

parvin, beta

-

Focal adhesion; Cell junction organization

Abnormal trunk musculature development

[54]

pdlim3b

PDZ and LIM domain 3b

-

pdlim5b

PDZ and LIM domain 5b

-

pvalb3

parvalbumin 3

-

calcium ion homeostasis

ryr1a

ryanodine receptor 1a (skeletal)

-

calcium ion channel transport

Abnormal trunk musculature development

[32]

ryr1b

ryanodine receptor 1b (skeletal)

-

calcium ion channel transport

Abnormal trunk musculature development

[33]

tnnc2

troponin C type 2 (fast)

-

Striated Muscle Contraction

smpx

small muscle protein, X-linked

-

Striated Muscle Contraction

smyd1b

SET and MYND domain containing 1b

-

Muscle Development

Thick myosin filament disorganization

[55]

srl

sarcalumenin

-

calcium ion homeostasis

stac3

SH3 and cysteine rich domain 3

-

Striated Muscle Contraction

Excitation–contraction coupling disruption

[34]

tcap

titin-cap (telethonin)

-

Striated Muscle Contraction

Myofibril disorganization

[30]

tmod4

tropomodulin 4 (muscle)

-

Muscle contraction

tnnc1b

troponin C type 1b (slow)

-

Muscle contraction

tnni2b.2

troponin I type 2b (skeletal, fast), tandem duplicate 2

-

Striated Muscle Contraction

tnnt1

troponin T type 1 (skeletal, slow)

-

Muscle contraction

tnnt3b

troponin T type 3b (skeletal, fast)

-

Striated Muscle Contraction

tpm1

tropomyosin 1 (alpha)

-

Striated Muscle Contraction

tpm2

tropomyosin 2 (beta)

-

Striated Muscle Contraction

trdn

triadin

-

Muscle contraction

trim54

tripartite motif containing 54

-

Titin-kinase regulation

xirp1

xin actin-binding repeat containing 1

-

myl13

myosin, light chain 13

-