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

• Q7RTS9
• A8K5I8
• B2RCF9
• B4DKI7
• Q3ZTS8
• Q6P2P5
• Q8N2M0
• Q9BVE9
• Q9NPU7

Gene Name

• DYM

Ensembl ID

• ENST00000269445
• ENSP00000269445
• ENSG00000141627
• ENST00000442713
• ENSP00000395942

Symbol

• DMC
• SMC

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)

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No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

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

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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.

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GlyGen

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

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (41)

Explore Interacting Targets

1 – 10 of 41

• See Interactions on String-DB

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)

Functions (1)

Components (3)

Processes (2)

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GO Term	Evidence	Assigned by
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB

Disease Associations (null)

No disease associations found

GWAS Traits (29)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

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	EFO_0008039	3	37	46		95.3
apolipoprotein A 1 measurement	EFO_0004614	2	8	8		94.6
body height	EFO_0004339	7	5	7		92.8
heel bone mineral density	EFO_0009270	2	3	3		91.4
high density lipoprotein cholesterol measurement	EFO_0004612	2	6	6		91.3

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5

1 – 5 of 29

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
BMI-adjusted hip circumference	EFO_0008039	46		95.3
apolipoprotein A 1 measurement	EFO_0004614	8		94.6
body height	EFO_0004339	7		92.8
heel bone mineral density	EFO_0009270	3		91.4
high density lipoprotein cholesterol measurement	EFO_0004612	6		91.3

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UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Complete proteome
Cytoplasm
Disease mutation
Dwarfism
Golgi apparatus
Lipoprotein
Membrane
Myristate
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
alkaline phosphatase measurement
anthropometric measurement
apolipoprotein A 1 measurement
appendicular lean mass
atrial fibrillation
BMI-adjusted hip circumference
BMI-adjusted waist-hip ratio
body fat distribution
body height
cancer

MGI Phenotype Find Similar Targets

No Header	No Header
cellular phenotype
craniofacial phenotype
growth/size/body region phenotype
limbs/digits/tail phenotype
renal/urinary system phenotype
skeleton phenotype

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	dymeclin	MGI:1918480	69190
Rat	dymeclin	RGD:1309111	291433
Dog	dymeclin	VGNC:40142	480222

Species	Name	OMA	EggNOG	Inparanoid
Chimp	dymeclin
Macaque	dymeclin
Mouse	dymeclin
Rat	dymeclin
Dog	dymeclin

Publication Statistics

PubMed Score 44.20

PubMed score by year

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PubTator Score 90.24

PubTator score by year

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Related Publications

Text Mined References (27)

GeneRif Annotations (10)

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PMID	Year	Title