Property Summary

NCBI Gene PubMed Count 28
PubMed Score 52.74
PubTator Score 173.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 2.97027789550362E-12
atypical teratoid/rhabdoid tumor 1095 2.35648489225085E-5
interstitial cystitis 2299 1.61648255900907E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 3.02144259017782E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 3.19957096578483E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00548021028716764
ductal carcinoma in situ 1745 0.00658741768168912
fibroadenoma 557 0.0111494863929881
invasive ductal carcinoma 2950 0.0210257735461769
spina bifida 1064 0.0358850273591566
Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 4.362 2.2
Disease Target Count
DEAFNESS, AUTOSOMAL RECESSIVE 49 1
Disease Target Count
Deafness, autosomal recessive, 49 1

Expression

Synonym

Accession Q8N4S9 A1BQX0 A1BQX1 A8KA97 Q96NM9
Symbols Tric
DFNB49
MARVD2
MRVLDC2

Gene

PANTHER Protein Class (2)

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Xenopus OMA EggNOG Inparanoid

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
651819 screening 1085 / 0 / 361502 High-Throughput Screening for Modulators of Cytosolic Chaperonin Activity

Gene RIF (19)

PMID Text
25666562 MARVELD2 variants are responsible for about 1.5 % (95 % CI 0.8-2.6) of non-syndromic hearing loss in our cohort of 800 Pakistani families. The c.1331+2T>C allele is recurrent.
25319490 The expressions of MARVELD2, CLDN1 and CLDN3 mRNA were significantly lower in cholesteatoma tissue and may be involved in epithelium permeability.
24652413 High tricellulin expression is associated with hepatocellular carcinoma.
23250572 This study reveals the presence and subcellular distribution of tricellulin in brain endothelial cells.
23239027 The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing.
23073616 The dynamic behavior of tricellulin during the destruction and formation of tight junctions (TJ) under various extracellular calcium conditions seems to be closely associated with the barrier and fence functions of TJs.
22394074 the tricellulin expression profile in normal and neoplastic human pancreas
22097895 DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
21868126 tricellulin and its role in tight junction formation and maintenance
21624353 the expression of tricellulin both in microglia and in the stomach immune cells point to a possible role of this new tight junctions protein in the immune system.
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AA Sequence

MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPA      1 - 70
IAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGS     71 - 140
EGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYNLRYSYMKSWAGLLRILGVVELLLGAGVFAC    141 - 210
VTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMSMYYR    211 - 280
TILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFV    281 - 350
TMIVYLISALVCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMATSGDRQRDSEVNFKELRTAKMK    351 - 420
PELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERYKAVFQDQFSEYKELSAEVQAVLRKFDELDAVM    421 - 490
SRLPHHSESRQEHERISRIHEEFKKKKNDPTFLEKKERCDYLKNKLSHIKQRIQEYDKVMNWDVQGYS      491 - 558
//

Text Mined References (31)

PMID Year Title
25666562 2015 Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
25319490 2015 Increased permeability of the epithelium of middle ear cholesteatoma.
24652413 2014 Tricellulin expression and its prognostic significance in primary liver carcinomas.
23250572 2013 Tricellulin expression in brain endothelial and neural cells.
23239027 2013 Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23073616 2013 Behavior of tricellulin during destruction and formation of tight junctions under various extracellular calcium conditions.
22394074 2012 Tricellulin expression in normal and neoplastic human pancreas.
22097895 2012 DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
21868126 2011 A look at tricellulin and its role in tight junction formation and maintenance.
More...