Tbio MARVELD2 MARVEL domain-containing protein 2

Protein Summary

Description

Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Uniprot Accession IDs

• Q8N4S9
• A1BQX0
• A1BQX1
• A8KA97
• Q96NM9

Gene Name

• MARVELD2

Ensembl ID

• ENST00000325631
• ENSP00000323264
• ENSG00000152939
• ENST00000454295
• ENSP00000396244
• ENST00000614617
• ENSP00000480044
• ENSG00000274671
• ENST00000622835
• ENSP00000480068
• ENST00000645446
• ENSP00000494616
• ENST00000646733
• ENSP00000496750
• ENST00000647531
• ENSP00000493858

Symbol

• TRIC
• Tric
• DFNB49
• MARVD2
• MRVLDC2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.91
virus perturbation	0.85
disease perturbation	0.79
cellular component	0.75
transcription factor perturbation	0.74

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Transcription Cofactor / Marvel Domain-containing Protein 2

Protein / Cell Junction Protein / Tight Junction / Marvel Domain-containing Protein 2

DTO Classes

Protein / Cell-cell Junction / Tight Junction / Marvel Domain-containing Protein 2

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: 84.87   (req: < 5)

Gene RIFs: 26   (req: <= 3)

Antibodies: 152   (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: 84.87   (req: >= 5)

Gene RIFs: 26   (req: > 3)

Antibodies: 152   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

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)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

Show Full 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 (69)

Explore Interacting Targets

1 – 10 of 69

• See Interactions on String-DB

STK38

Tchem

Family:  Kinase

Novelty:  0.03242123

p_int:  0.999999467

p_ni:  5.25e-7

p_wrong:  8e-9

Score:  0.269

Data Source:  BioPlex,STRINGDB

TTL

Tchem

Family:  Enzyme

Novelty:  0.03494724

p_int:  0.999998646

p_ni:  7.01e-7

p_wrong:  6.54e-7

Score:  0.199

Data Source:  BioPlex,STRINGDB

CTBS

Tbio

Family:  Enzyme

Novelty:  0.00956005

p_int:  0.999997582

p_ni:  0.00000174

p_wrong:  6.79e-7

Score:  0.325

Data Source:  BioPlex,STRINGDB

ACAD9

Tbio

Family:  Enzyme

Novelty:  0.03238308

p_int:  0.972666022

p_ni:  0.027333978

Score:  0.514

Data Source:  BioPlex,STRINGDB

BAIAP2L1

Tbio

Novelty:  0.06381886

p_int:  0.97129349

p_ni:  0.014796904

p_wrong:  0.013909606

Score:  0.25

Data Source:  BioPlex,STRINGDB

NDUFAF1

Tclin

Novelty:  0.05630549

p_int:  0.96107895

p_ni:  0.03892105

Score:  0.552

Data Source:  BioPlex,STRINGDB

RAP2A

Tbio

Family:  Enzyme

Novelty:  0.00541101

p_int:  0.91484625

p_ni:  0.085153721

p_wrong:  2.8e-8

Score:  0.188

Data Source:  BioPlex,STRINGDB

ECSIT

Tbio

Novelty:  0.04690184

p_int:  0.844868744

p_ni:  0.155131255

p_wrong:  1e-9

Score:  0.542

Data Source:  BioPlex,STRINGDB

GAP43

Tbio

Novelty:  0.00091023

p_int:  0.829942659

p_ni:  0.170057326

p_wrong:  1.5e-8

Score:  0.169

Data Source:  BioPlex,STRINGDB

MARVELD3

Tbio

Novelty:  0.10486289

Score:  0.92

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (2)

KEGG (1)

PathwayCommons (1)

Find Similar Targets

Items per page:

5

1 – 1 of 1

Data Source	Name	Explore in Pharos	Explore in Source
KEGG	Tight junction	169 targets	path:hsa04530

Name	Explore in Pharos	Explore in Source
Tight junction	169 targets	path:hsa04530

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (14)

Components (10)

Processes (4)

Find Similar Targets

Items per page:

10

1 – 10 of 10

GO Term	Evidence	Assigned by
apical plasma membrane	Inferred from Direct Assay (IDA)	UniProtKB
basolateral plasma membrane	Inferred from Direct Assay (IDA)	UniProtKB
bicellular tight junction	Inferred from Direct Assay (IDA)	UniProtKB
cell junction	Inferred from Direct Assay (IDA)	HPA
cytoplasm	Inferred from Direct Assay (IDA)	UniProtKB
cytoplasmic vesicle	Inferred from Direct Assay (IDA)	UniProtKB
tricellular tight junction	Inferred from Direct Assay (IDA)	UniProtKB
integral component of membrane	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
paranodal junction	Inferred from Electronic Annotation (IEA)	Ensembl
Schmidt-Lanterman incisure	Inferred from Electronic Annotation (IEA)	Ensembl

Disease Associations (null)

No disease associations found

GWAS Traits (12)

Items per page:

5

1 – 5 of 12

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
neutrophil count	EFO_0004833	ENSG00000274671	1	1	1		82.1
neutrophil count	EFO_0004833	ENSG00000152939	1	1	1		82.1
interleukin 18 measurement	EFO_0004581	ENSG00000274671	1	1	1		79.8
interleukin 18 measurement	EFO_0004581	ENSG00000152939	1	1	1		79.8
myeloid white cell count	EFO_0007988	ENSG00000274671	1	1	1		79.7

Items per page:

5

1 – 5 of 12

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
neutrophil count	EFO_0004833	1		82.1
neutrophil count	EFO_0004833	1		82.1
interleukin 18 measurement	EFO_0004581	1		79.8
interleukin 18 measurement	EFO_0004581	1		79.8
myeloid white cell count	EFO_0007988	1		79.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Cell junction
Cell membrane
Coiled coil
Complete proteome
Deafness
Hearing
Membrane
Non-syndromic deafness

GWAS Trait Find Similar Targets

No Header	No Header
blood urea nitrogen measurement
glomerular filtration rate
interleukin 18 measurement
myeloid white cell count
neutrophil count
urate measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
craniofacial phenotype
digestive/alimentary phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
immune system phenotype
liver/biliary system phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	MARVEL domain containing 2	VGNC:13544	461831
Macaque	MARVEL domain containing 2		700370
Mouse	MARVEL (membrane-associating) domain containing 2	MGI:2446166	218518
Rat	MARVEL domain containing 2	RGD:1306909	365657
Dog	MARVEL domain containing 2	VGNC:43029	487240

Species	Name	OMA	EggNOG	Inparanoid
Chimp	MARVEL domain containing 2
Macaque	MARVEL domain containing 2
Mouse	MARVEL (membrane-associating) domain containing 2
Rat	MARVEL domain containing 2
Dog	MARVEL domain containing 2

Publication Statistics

PubMed Score 84.87

PubMed score by year

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PubTator Score 188.29

PubTator score by year

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Related Publications

Text Mined References (35)

GeneRif Annotations (26)

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10

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PMID	Year	Title