Identity
HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
DFNB49,MARVD2,MRVLDC2,Tric
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 153562
MIM: 610572
HGNC: 26401
Ensembl: ENSG00000152939
Variants:
dbSNP: 153562
ClinVar: 153562
TCGA: ENSG00000152939
COSMIC: MARVELD2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Tight junction | KEGG | ko04530 |
| Tight junction | KEGG | hsa04530 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36921056 | 2023 | Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT. | 5 |
| 37929963 | 2023 | SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption. | 3 |
| 36921056 | 2023 | Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT. | 5 |
| 37929963 | 2023 | SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption. | 3 |
| 33000262 | 2020 | Association of tricellulin expression with poor colorectal cancer prognosis and metastasis. | 2 |
| 33015857 | 2020 | Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies. | 0 |
| 33000262 | 2020 | Association of tricellulin expression with poor colorectal cancer prognosis and metastasis. | 2 |
| 33015857 | 2020 | Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies. | 0 |
| 29752989 | 2019 | A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. | 4 |
| 29752989 | 2019 | A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. | 4 |
| 28612843 | 2018 | Tricellulin is regulated via interleukin-13-receptor α2, affects macromolecule uptake, and is decreased in ulcerative colitis. | 41 |
| 29659773 | 2018 | Gut Barrier Dysfunction-A Primary Defect in Twins with Crohn's Disease Predominantly Caused by Genetic Predisposition. | 19 |
| 28612843 | 2018 | Tricellulin is regulated via interleukin-13-receptor α2, affects macromolecule uptake, and is decreased in ulcerative colitis. | 41 |
| 29659773 | 2018 | Gut Barrier Dysfunction-A Primary Defect in Twins with Crohn's Disease Predominantly Caused by Genetic Predisposition. | 19 |
| 28436082 | 2017 | Tricellulin is a target of the ubiquitin ligase Itch. | 5 |
Citation
Dessen P
MARVELD2 (MARVEL domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2012-01-01
Online version: http://atlasgeneticsoncology.org/gene/52554/marveld2
