Protein Summary
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]
- ENST00000269445
- ENSP00000269445
- ENSG00000141627
- ENST00000442713
- ENSP00000395942
- DMC
- SMC
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
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (41)
TPST2
Family: Enzyme
Novelty: 0.02551048
p_int: 0.992037209
p_ni: 0.00796276
p_wrong: 3.1e-8
Data Source: BioPlex
PNKD
Family: Enzyme
Novelty: 0.02456078
p_int: 0.976117351
p_ni: 0.023882648
p_wrong: 1e-9
Data Source: BioPlex
EPHA1
Family: Kinase
Novelty: 0.00136672
p_int: 0.972191649
p_ni: 0.027808334
p_wrong: 1.7e-8
Data Source: BioPlex
VIPR1
Family: GPCR
Novelty: 0.0016529
p_int: 0.959286193
p_ni: 0.040713803
p_wrong: 4e-9
Data Source: BioPlex
CHRM3
Family: GPCR
Novelty: 0.00849776
p_int: 0.956107241
p_ni: 0.04389274
p_wrong: 1.9e-8
Data Source: BioPlex
FPR2
Family: GPCR
Novelty: 0.00228744
p_int: 0.913029557
p_ni: 0.086970442
p_wrong: 1e-9
Data Source: BioPlex
VIPR2
Family: GPCR
Novelty: 0.00463802
p_int: 0.887736956
p_ni: 0.112263044
Data Source: BioPlex
HS2ST1
Family: Enzyme
Novelty: 0.04520207
p_int: 0.886950087
p_ni: 0.113049913
Score: 0.189
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (6)
Functions (1)
Components (3)
Processes (2)
GO Term | Evidence | Assigned by | ||
---|---|---|---|---|
Inferred from Physical Interaction (IPI) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (29)
Items per page:
1 – 5 of 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 | |||||
Items per page:
1 – 5 of 29
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
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 | |||||
Publication Statistics
PubMed Score 44.20
PubMed score by year
PubTator Score 90.24
PubTator score by year
Related Publications
Text Mined References (27)
GeneRif Annotations (10)
Items per page:
0 of 0
PMID | Year | Title |
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