MARVELD2 (MARVEL domain containing 2)

2012-01-01  

Identity

HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
DFNB49,MARVD2,MRVLDC2,Tric
FUSION GENES

Other Information

Locus ID:

NCBI: 153562
MIM: 610572
HGNC: 26401
Ensembl: ENSG00000152939

Variants:

dbSNP: 153562
ClinVar: 153562
TCGA: ENSG00000152939
COSMIC: MARVELD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152939ENST00000325631Q8N4S9
ENSG00000152939ENST00000413223A1BQX2
ENSG00000152939ENST00000436532A1BQX2
ENSG00000152939ENST00000454295Q8N4S9
ENSG00000152939ENST00000512803D6RA09
ENSG00000152939ENST00000515844D6RAH8
ENSG00000152939ENST00000645446Q8N4S9
ENSG00000152939ENST00000647531Q8N4S9

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201642572010Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions.104
199155902009The chaperonin TRiC blocks a huntingtin sequence element that promotes the conformational switch to aggregation.103
195354562009Tricellulin forms a barrier to macromolecules in tricellular tight junctions without affecting ion permeability.87
232390272013Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.61
218681262011A look at tricellulin and its role in tight junction formation and maintenance.24
205333052010c-Jun N-terminal kinase is largely involved in the regulation of tricellular tight junctions via tricellulin in human pancreatic duct epithelial cells.23
180846942008Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.20
223940742012Tricellulin expression in normal and neoplastic human pancreas.13
155386322005A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.11
195382902009Differential phosphorylation of occludin and tricellulin by CK2 and CK1.11

Citation

Dessen P

MARVELD2 (MARVEL domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52554/marveld2