Table 4:
Proteins Involved in Important Signaling Pathways to form Sclerotomal Derivatives
| Vertebra and Cartilaginous End Plate | |||
|---|---|---|---|
| Protein Namea | Abbreviationa | Protein Fucntiona | Skeletal Disordersbc |
| Aggrecan | ACAN | Proteoglycan | Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM #612813; Osteochondritis Dissecans, OMIM# 165800 |
| Bone Morphogenetic Protein | BMP | TGFß superfamily ligand | Brachydactyly, Type A2, OMIM#112600, Osteonecrosis, OMIM #608805, Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies, OMIM #617877 |
| Bone Morphogenetic Protein Receptor Type 1A | BMPR1a | Serine/Threonine kinase transmembrane receptor | n/a |
| Bone Morphogenetic Protein Receptor Type 1B | BMPR1b | Serine/Threonine kinase transmembrane receptor | Brachydactyly, type a1, d, OMIM # 616849, Acromesomelic dysplasia, Demirhan type, OMIM #609441 |
| Chordin | CHRD | BMP antagonist | |
| Collagen Type II Alpha 1 Chain | COL2a1 | Extracellular matrix protein | Kniest Dysplasia, OMIM #156550; Spondyloepiphyseal dysplasia congenital type, OMIM #83900; Achondrogenesis 2, OMIM #200610; Legg-Calve-Perthes disease, OMIM #150600 |
| Crossveinless | CV-2 | BMP inhibitor | Diaphanospondylodysostosis, OMIM #608022; Ischio-Vertebral Syndrome, OMIM #n/a |
| Dachsous Cadherin-Related 1 | DCHS1 | Calcium-dependent cadherin | Van Maldergem syndrome 1, OMIM #601390; Hennekam Syndrome, OMIM #235510 |
| FAT Atypical Cadherin 4 | FAT4 | Protocadherin | Van maldergem syndrome 2, OMIM #615546; Hennekam Syndrome, OMIM #235510 |
| Growth and Differentiation Factor 5 | GDF5 | TGFß superfamily ligand | Acromesomelic chondrodysplasia, Grebe type, OMIM #200700; Brachydactyly C, OMIM #113100; Du Pan syndrome, OMIM #228900; Multiple synostoses syndrome 2, OMIM #610017; Symphalangism, proximal 1B, OMIM #615298 |
| NK3 Homeobox 2 | NKX3.2 (BAXP1) | Transcriptional repressor | Spondylo-megaepiphysealmetaphyseal dysplasia, OMIM #613330 |
| Notch | NOTCH | Type I transmembrane protein | Adams-Oliver syndrome 5, OMIM #616028 |
| Paired Box 1 | PAX1 | PAX family transcription factor | Otofaciocervical syndrome 2, OMIM #615560; Klippel-feil syndrome, OMIM #613702; Diaphanospondylodysostosis, OMIM #608022 |
| Paired Box 9 | PAX9 | PAX family transcription factor | Tooth agenesis, OMIM #604625 |
| Recombination Signal Binding Protein For Immunoglobulin Kappa J | RBPJ | Transcriptional Repressor | Adams-Oliver syndrome , OMIM #100300 |
| SMAD Family Member 1 | SMAD 1 | Transcriptional coactivators | Buschke-Ollendorff Syndrome, OMIM #166700; Osteopoikilosis, OMIM #166705 |
| SMAD Family Member 5 | SMAD 5 | Transcriptional coactivator | n/a |
| Sonic Hedgehog | SHH | Secreted ligand | Laurin-Sandrow syndrome, OMIM #135750; Hypoplasia or aplasia of |
| SRY-Box 5 | SOX5 | SOX family transcription factor | Lamb-Shaffer syndrome, OMIM #616803 |
| SRY-Box 6 | SOX6 | SOX family transcription factor | Multiple synostoses syndrome 1, OMIM #186500 |
| SRY-Box 9 | SOX9 | SOX family transcription factor | Campomelic dysplasia, OMIM #114290 |
| Transforming Growth Factor Beta | TGFBs | TGFR superfamily ligand | Camurati-Engelmann disease, OMIM #131300; Loeys-Dietz syndrome 5, OMIM #615582; Holt-Oram Syndrome, OMIM #142900 |
| Transforming Growth Factor Beta Receptor 2 | TGFBR2 | Serine/Threonine kinase transmembrane receptor | Loeys-Dietz syndrome 2, OMIM #610168 |
| Annulus Fibrosus | |||
|---|---|---|---|
| Protein Namea | Abbreviationa | Protein Fucntiona | Skeletal Disordersbc |
| Bone Morphogenetic Protein | BMP | TGFß superfamily ligand | Brachydactyly, Type A2, OMIM#112600, Osteonecrosis, OMIM #608805, Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies, OMIM #617877 |
| Collagen Type I A | COLla | Extracellular matrix protein | Caffey disease, OMIM #114000; Ehlers-Danlos syndrome, classic type, OMIM #130000; Osteogenesis imperfecta 1, OMIM #166200; Osteoporosis, OMIM #166710 |
| Fibromodulin | FMOD | Proteoglycan | Hypochondrogenesis, OMIM #200610; Pseudoachondroplasia, OMIM #177170 |
| Filamin B | FLNB | Cytoskeleton protein | Atelosteogenesis 1, OMIM #108720; Boomerang dysplasia, OMIM #112310; Larsen syndrome, OMIM #150250; pondylocarpotarsal synostosis syndrome; OMIM #272460 |
| Kelch Like Family Member 14 | Klhl14 | Long non-coding RNA | n/a |
| Mohawk | MKX | IRX family-related homeobox protein | Cleft Palate, Isolated, OMIM #119540 |
| Noggin | NOG | BMP inhibitor | Multiple synostoses syndrome 1, OMIM #186500 |
| NK3 Homeobox 2 | NKX3.2 (BAXP1) | Transcriptional repressor | Spondylo-megaepiphysealmetaphyseal dysplasia, OMIM #613330 |
| Paired Box 1 | PAX1 | PAX family transcription factor | Otofaciocervical syndrome 2, OMIM #615560; Klippel-feil syndrome, OMIM #613702; |
| Paired Box 9 | PAX9 | PAX family transcription factor | Tooth agenesis, OMIM #604625 |
| Scleraxis | SCX | Basic helix loop helix transcription factor | Acrocallosal Syndrome, OMIM #200990; Wilson-Turner X-Linked Mental Retardation Syndrome, OMIM #309585 |
| SMAD Family Member 2 | SMAD 2 | Transcriptional coactivator | Buschke-Ollendorff Syndrome, OMIM #166700; Melorheostosis, OMIM #155950 |
| SMAD Family Member 3 | SMAD 3 | Transcriptional coactivator | Loeys-Dietz syndrome 3, OMIM #613795 |
| Sonic Hedgehog | SHH | Secreted ligand | Laurin-Sandrow syndrome, OMIM #135750; Hypoplasia or aplasia of tibia with polydactyly, OMIM #188740; Solitary median maxillary central incisor, OMIM #147250 |
| SRY-Box6 | SOX6 | SOX family transcription factor | Multiple synostoses syndrome 1, OMIM #186500 |
| SRY-Box9 | SOX9 | SOX family transcription factor | Campomelic dysplasia, OMIM #114290 |
| Syndecan 4 | SDC4 | transmembrane (type I) heparan sulfate proteoglycan | n/a |
| Transforming Growth Factor Beta | TGFß | TGFfc superfamily ligand | Camurati-Engelmann disease, OMIM #131300; Loeys-Dietz syndrome 5, OMIM #615582; Holt-Oram Syndrome, OMIM #142900 |
| Transforming Growth Factor Beta Receptor 2 | TGFßR2 | Serine/Threonine kinase transmembrane receptor | Loeys-Dietz syndrome 2, OMIM #610168 |