MARVEL domain-containing protein 2 (MARVELD2)
The protein contains 558 amino acids for an estimated molecular weight of 64168 Da.
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). (updated: Nov. 7, 2018)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs1185246 |
Biological Process
Bicellular tight junction assembly
Cell-cell junction organization
Establishment of endothelial barrier
Sensory perception of sound
Cellular Component
Apical plasma membrane
Basolateral plasma membrane
Bicellular tight junction
Cell junction
Cytoplasm
Cytoplasmic vesicle
Integral component of membrane
Paranodal junction
Schmidt-Lanterman incisure
Tricellular tight junction
Molecular Function
The reference OMIM entry for this protein is 610153
Deafness, autosomal recessive 49; dfnb49
A number sign (#) is used with this entry because of evidence that DFNB49 is caused by mutation in the gene encoding tricellulin (MARVELD2; 610572).
MAPPING
Ramzan et al. (2005) reported 2 large consanguineous Pakistani families with autosomal recessive congenital profound sensorineural hearing loss of all frequencies. Genomewide linkage analysis followed by fine mapping of both families showed linkage to a candidate disease locus, termed DFNB49, on chromosome 5q12.3-q14.1 (maximum 2-point lod scores of 4.44 and 5.94 at D5S2055 and D5S424 in the 2 families, respectively). Haplotype analysis delineated an 11-cM interval flanked by D5S647 and D5S1501. Direct sequencing excluded mutations in coding regions of the SLC30A5 (607819) and SLC12A2 (600840) genes. Riazuddin et al. (2006) identified 6 additional DFNB49 families and refined the critical interval to 2.4 Mb. They found homozygous mutations in the MARVELD2 gene to be the cause of the disorder in all families. Four families were homozygous for the same disease haplotype and carried the same mutation located in the splice donor site of exon 4 (610572.0003). Two families segregated a deletion of this same splice donor site (610572.0002), and 1 family segregated a mutation in the splice acceptor site of exon 4 (610572.0001). Affected members of the remaining family carried a nonsense mutation in exon 5 (610572.0004). All of these mutations resulted in proteins that lacked the ability to bind to the scaffolding protein ZO1 (601009) because of the loss of the conserved C-terminal occludin-ELL domain. In affected members of 3 consanguineous Pakistani kindreds with autosomal recessive nonsyndromic deafness, Chishti et al. (2008) identified 2 different homozygous mutations in the MARVELD2 gene (612572.0003, 610572.0005), one of which had previously been reported. The authors estimated that the prevalence of autosomal recessive deafness due to MARVELD2 mutations in Pakistani families is 1.06%. ... More on the omim web site
Dec. 10, 2018: Protein entry updated
Automatic update: model status changed
Nov. 16, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 25, 2017: Additional information
No protein expression data in P. Mayeux work for MARVELD2
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 610153 was added.