LEM domain-containing protein 2 (LEMD2)
The protein contains 503 amino acids for an estimated molecular weight of 56975 Da.
Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).', 'Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity). (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
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 predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| CTRCT46 |
No binding partner found
Biological Process
Heart formation
Meiotic attachment of telomere to nuclear envelope
Mitotic nuclear membrane reassembly
Negative regulation of BMP signaling pathway
Negative regulation of MAPK cascade
Negative regulation of protein kinase B signaling
Neurogenesis
Nuclear envelope organization
Protein localization to chromatin
Skeletal muscle cell differentiation
The reference OMIM entry for this protein is 212500
Cataract, congenital or juvenile cataract, juvenile, hutterite type, included
Saebo (1949) studied 17 families with cases of congenital or juvenile cataracts. Two or more sibs were affected in 8 families. In 9 families the parents were related, being first cousins in 5. In 1 family the proband had retinitis pigmentosa (268000), of which cataract is a known complication. In another family the proband had retinitis pigmentosa and congenital deafness (Usher syndrome, 276900). Recessively inherited congenital cataract was found to be frequent in Cyprus by Merin et al. (1972). Shokeir and Lowry (1985) found 9 cases in 4 sibships of an inbred Lehrerleut Hutterite group. Apart from the cataracts, all were healthy, with normal growth and development. Specifically, no metabolic disorder could be identified. Intelligence, hearing, and behavior were normal. The patients were neurologically intact. There were no ocular lesions other than the cataracts. Forsius et al. (1992) found 15 cases of juvenile cataract on the Aland Islands, which have about 23,000 inhabitants. Twelve of the cases belonged to 7 sibships of 2 different pedigrees and 3 cases were apparently sporadic; there were no genealogic connections in the last 6-10 generations to the 2 cataract pedigrees. One of the sporadic cases presented with a corrected cleft palate and a chromosomal anomaly. In another sporadic case, the mother probably had been infected with rubella during early gestation. In the third sporadic case, the cataract was combined with partial aniridia, but the patient had several genealogic connections to one of the cataract pedigrees. Parental consanguinity was detected in 5 of the 7 sibships, in some on multiple ancestral levels. Apart from the cataracts, all patients were healthy, with normal intelligence, behavior, hearing, growth, and development. ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 212500 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).