Ras-related protein R-Ras2 (RRAS2)

The protein contains 204 amino acids for an estimated molecular weight of 23400 Da.

 

GTP-binding protein with GTPase activity involved in the regulation of MAPK signaling pathway, thereby controlling multiple cellular processes (PubMed:31130282). Involved in the regulation of MAPK signaling pathway (PubMed:31130282, PubMed:31130285). Regulation of craniofacial development (PubMed:31130282, PubMed:31130285). (updated: April 22, 2020)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. 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.
  3. 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.
  4. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  5. 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.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

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.

No sequence conservation computed yet.

This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.


Interpro domains
Total structural coverage: 100%
Model score: 0
No model available.

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VariantDescription
NS12
NS12; increased MAPK signaling
NS12
NS12; associated in cis with C-75; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish; results in cranio
Likely benign variant; associated in cis with H-72 in a patient with Noonan syndrome; has no effect on MAPK signaling; has no effect on craniofacial p

The reference OMIM entry for this protein is 167000

Ovarian cancer ovarian cancer, epithelial, included

A number sign (#) is used with this entry because ovarian cancer has been associated with somatic changes in several genes, including OPCML (600632), PIK3CA (171834), AKT1 (164730), CTNNB1 (116806), RRAS2 (600098), CDH1 (192090), ERBB2 (164870), and PARK2 (602544). See also 607893 for an ovarian cancer susceptibility locus (OVCAS1) that has been mapped to chromosome 3p25-p22. Familial ovarian cancer may be part of other cancer syndromes. See susceptibility to familial breast-ovarian cancer 1 and 2 (604370 and 612555), due to mutations in the BRCA1 (113705) and BRCA2 (600185) genes, respectively; and Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1; 120435), due to mutations in DNA mismatch repair genes such as MSH2 (609309), MSH3 (600887), MSH6 (600678), and MLH1 (120436).

DESCRIPTION

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

INHERITANCE

There are several early reports of familial ovarian cancer showing autosomal dominant inheritance. Some of these families may have had the breast-ovarian cancer syndrome or Lynch syndrome. Liber (1950) described a family with histologically proven papillary adenocarcinoma of the ovary in 5 sisters and their mother. Jackson (1967) reported a Jamaican family in which grandmother, mother, and daughter developed ovarian tumors; 2 tumors were known to have been dysgerminomas (see 603737). Lewis and Davison (1969) described a family in which 5 of 6 sisters and their mother had ovarian cancer. One of the 5 had a malignant ovarian cyst but subsequently died of colon cancer. Prophylactic oophorectomy was performed in the sixth sister and in 5 females of the following generation. Li et al. (1970) reported a family in which 7 women, including 4 sisters, had ovarian carcinoma. Ovarian cancer was suspected in 3 other women of the family. Philip (1979) described a family with multiple cases of poorly differentiated cystadenocarcinoma of the ovary. The 4 relatives with ovarian carcinoma were the proband's mother, maternal aunt, that woman's daughter, and the daughter of another maternal aunt.

CYTOGENETICS

Whang-Peng et al. (1984) performed cytogenetic studies on ovarian tumor tissue from 44 patients with various forms of epithelial ovarian cancer. All 44 samples had numerical abnormalities, and 39 had structural abnormalities involving multiple chromosomes. Clone formation and the number of chromosomes involved in structural abnormalities increased with duration of disease and were more extensive in patients treated with chemotherapy compared to patients treated with surgery alone. Aneuploidy was observed in all patients and there was considerable variation in the chromosome numbers, often ranging from diploidy to triploidy to tetraploidy.

MAPPING

- Chromosome 2q22.1 Because both ovarian and breast ... More on the omim web site

Subscribe to this protein entry history

April 25, 2020: 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

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 167000 was added.

Jan. 28, 2016: Protein entry updated
Automatic update: model status changed

Jan. 25, 2016: Protein entry updated
Automatic update: model status changed