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Tbio
DYM
Dymeclin

Protein Summary
Description
Necessary for correct organization of Golgi apparatus. Involved in bone development. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000269445
  • ENSP00000269445
  • ENSG00000141627
  • ENST00000442713
  • ENSP00000395942

Symbol
  • DMC
  • SMC
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
virus perturbation
0.92
disease perturbation
0.87
histone modification site profile
0.76
transcription factor binding site profile
0.75


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 44.2   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 119   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 44.2   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 119   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (41)
TPST2
Tbio
Family:  Enzyme
Novelty:  0.02551048
p_int:  0.992037209
p_ni:  0.00796276
p_wrong:  3.1e-8
Data Source:  BioPlex
SIGLECL1
Tdark
p_int:  0.980855459
p_ni:  0.019144541
Data Source:  BioPlex
PNKD
Tbio
Family:  Enzyme
Novelty:  0.02456078
p_int:  0.976117351
p_ni:  0.023882648
p_wrong:  1e-9
Data Source:  BioPlex
EPHA1
Tchem
Family:  Kinase
Novelty:  0.00136672
p_int:  0.972191649
p_ni:  0.027808334
p_wrong:  1.7e-8
Data Source:  BioPlex
VIPR1
Tchem
Family:  GPCR
Novelty:  0.0016529
p_int:  0.959286193
p_ni:  0.040713803
p_wrong:  4e-9
Data Source:  BioPlex
CHRM3
Tclin
Family:  GPCR
Novelty:  0.00849776
p_int:  0.956107241
p_ni:  0.04389274
p_wrong:  1.9e-8
Data Source:  BioPlex
CD70
Tbio
Novelty:  0.00420393
p_int:  0.9353447
p_ni:  0.064655299
p_wrong:  2e-9
Data Source:  BioPlex
FPR2
Tchem
Family:  GPCR
Novelty:  0.00228744
p_int:  0.913029557
p_ni:  0.086970442
p_wrong:  1e-9
Data Source:  BioPlex
VIPR2
Tchem
Family:  GPCR
Novelty:  0.00463802
p_int:  0.887736956
p_ni:  0.112263044
Data Source:  BioPlex
HS2ST1
Tbio
Family:  Enzyme
Novelty:  0.04520207
p_int:  0.886950087
p_ni:  0.113049913
Score:  0.189
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (6)
Find Similar Targets
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Disease Associations (null)
No disease associations found
GWAS Traits (29)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted hip circumference
3
37
46
95.3
apolipoprotein A 1 measurement
2
8
8
94.6
body height
7
5
7
92.8
heel bone mineral density
2
3
3
91.4
high density lipoprotein cholesterol measurement
2
6
6
91.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted hip circumference
46
95.3
apolipoprotein A 1 measurement
8
94.6
body height
7
92.8
heel bone mineral density
3
91.4
high density lipoprotein cholesterol measurement
6
91.3
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
dymeclin
VGNC:5163
455412
Macaque
dymeclin
698595
Mouse
MGI:1918480
69190
Rat
RGD:1309111
291433
Dog
dymeclin
VGNC:40142
480222
Species
Name
OMA
EggNOG
Inparanoid
Chimp
dymeclin
Macaque
dymeclin
Mouse
Rat
Dog
dymeclin
Publication Statistics
PubMed Score 44.20
PubMed score by year
PubTator Score 90.24
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title