Introduction
Gene name | Protein | Function | References |
---|---|---|---|
APTX | Aprataxin | DNA repair | [9] |
CACNA1C | Calcium channel, voltage-dependent, L-type, alpha 1C sub-unit | Sub-unit of the L-type calcium channel | [9] |
CAMK2D | Calcium/calmodulin-dependent protein kinase II delta | Serine/threonine kinase; regulates many cardiac proteins through phosphorylation | |
CAMK2G | Calcium/calmodulin-dependent protein kinase II Gamma | Serine/threonine kinase; regulates many cardiac proteins through phosphorylation | [9] |
DAB1 | Disabled-1 | Neuronal development | [9] |
DNM3 | Dynamin-3 | Actin-membrane budding | [9] |
DST | Dystonin | Adhesion junction plaque protein | [21] |
DTNA | Dystrobrevin alpha | Part of the dystrophin-assoicated complex linking ECM and cytoskeleton | [9] |
ENAH | Protein-enabled homolog | Actin-associated | [21] |
FHOD3 | Formin homology 2 domain-containing 3 | Sarcomeric assembly | [9] |
FNBP1 | Formin-binding protein 1 | Actin cytoskeleton regulation | [9] |
GIT2 | G protein-coupled receptor kinase interactor 2 | Cytoskeletal dynamics | [9] |
IMMT | Inner membrane mitochondrial protein | Part of the mitochondrial inner membrane complex | [21] |
KALRN | Kalirin | Serine/threonine protein kinase | [9] |
KCNIP2 | KV channel-interacting protein 2 | Sub-unit of voltage-gated potassium channel complex | [9] |
LDB3 | LIM domain binding 3 | Sarcomeric stabilization | |
LMO7 | LIM domain only protein 7 | - | [21] |
LRRFIP1 | Leucine-rich repeat flightless-interacting protein 1 | Transcriptional repressor | [21] |
MECP2 | Methyl CpG–binding protein 2 | Transcriptional regulator; highly expressed in neuronal cells | [9] |
MLIP | Muscular-enriched A-type laminin-interacting protein | Interacts with lamin A/C; potentially involved in cardiac homeostasis | [21] |
MTMR1 | Myotubularin-related protein 1 | - | [9] |
MYH7 | Myosin heavy chain 7 | Cardiac slow twitch myosin heavy chain beta isoform; muscle contraction | [21] |
MYOM1 | Myomesin-1 | Sarcomeric; links titin and thick filament | [21] |
NEXN | Nexilin | Actin-associated; DCM-associated | [21] |
NFIA | Nuclear factor I A | Transcription factor | [9] |
NPRL3 | Nitrogen permease regulator-like 3 | Inhibits mTORC1; necessary for cardiovascular development | |
NTRK3 | Tropomyosin receptor kinase C | Neutrophin-3-receptor | [9] |
OBSCN | Obscurin | Sarcomeric signaling | [21] |
PDLIM3 | PDZ and LIM domain protein 3 | Binds alpha actinin-2; relevant for right ventricular function | [21] |
PDLIM5 | PDZ and LIM domain protein 5 | LIM domain protein; protein-protein interaction | |
PLEKHA5 | Pleckstrin homology domain-containing family A member 5 | - | [9] |
RALGPS1 | Ral GEF with PH domain- and SH3-binding motif 1 | - | [9] |
RTN4 | Reticulon 4 | Neurite outgrowth inhibitor in the central nervous system | [21] |
RYR2 | Ryanodine receptor 2 | Calcium receptor in the SR; allows release of Ca2+ into the cytosol | [21] |
SEMA6D | Semaphorin 6D | Neuronal regulation | [9] |
SH3KBP1 | SH3 domain-containing kinase-binding protein 1 | - | [9] |
SLC38A10 | Putative sodium-coupled neutral amino acid transporter 10 | Sodium-dependent amino acid/proton antiporter | [9] |
SORBS1 | Sorbin and SH3 domain-containing 1 | Cytoskeletal formation | [9] |
SPEN | Msx2-interacting protein | Hormone inducible transcriptional repressor | [9] |
TNNT2 | Cardiac troponin T | Part of the cardiac troponin complex regulating muscle contraction dependent on calcium | [21] |
TPM1 | Tropomyosin alpha-1 chain | Cytoskeletal; contraction | [9] |
TRDN | Triadin | Forms a complex with RyR and CASQ2; calcium release from the SR | [9] |
TTN | Titin | Sarcomeric spring; compliance of the heart | |
UBE2F | Ubiquitin-conjugating enzyme E2 F (putative) | - | [9] |
ZNF451 | E3 SUMO-protein ligase ZNF451 | Protein sumoylation | [9] |