Disco-interacting protein 2 homolog B (DIP2B)
The protein contains 1576 amino acids for an estimated molecular weight of 171492 Da.
Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin. (updated: Feb. 10, 2021)
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.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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.
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| Variant | Description |
|---|---|
| dbSNP:rs11169525 |
No binding partner found
The reference OMIM entry for this protein is 611379
Disco-interacting protein 2, drosophila, homolog of, b; dip2b
Kiaa1463
CLONING
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned DIP2B, which they designated KIAA1463. The transcript contains a repetitive element in its 3-prime UTR. RT-PCR ELISA detected moderate expression in adult brain and in all specific adult brain regions examined. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver, with little to no expression in all other tissues examined. Winnepenninckx et al. (2007) identified DIP2B as the gene associated with fragile site FRA12A (136630) on chromosome 12. The predicted 1,576-amino acid DIP2B protein contains a DMAP1 (DNMAP1; 605077)-binding domain and 2 AMP-binding domains. Northern blot analysis detected a 9-kb transcript in most tissues examined. Within specific brain regions, highest expression was in cerebral cortex and frontal and parietal lobes.GENE STRUCTURE
Winnepenninckx et al. (2007) determined that the DIP2B gene contains 38 exons.MAPPING
By FISH and genomic sequence analysis, Winnepenninckx et al. (2007) mapped the DIP2B gene to chromosome 12q13.12.MOLECULAR GENETICS
In 2 patients with mental retardation associated with FRA12A, Winnepenninckx et al. (2007) identified a CGG repeat expansion in the 5-prime untranslated region of the DIP2B gene (611379.0001). ... More on the omim web site
Feb. 16, 2021: 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 16, 2016: Protein entry updated
Automatic update: OMIM entry 611379 was added.