DYM
Summary: This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namedymeclin OMIM IDMIM:607461 Ensembl IDEnsembl:ENSG00000141627 HGNC IDHGNC:HGNC:21317 PHARMGKB IDPA134879547 Map Location18q21.1 | |||||
GO terms in DYM
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0007030 | Golgi organization |
| BP | IMP | GO:0007030 | Golgi organization |
| BP | IMP | GO:0060348 | bone development |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005794 | Golgi apparatus |
Gene expression in normal tissue: DYM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DYM
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DYM
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.