Description: Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA. RefSeq Summary (NM_002865): The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Transcript (Including UTRs) Position: hg19 chr8:61,429,469-61,536,203 Size: 106,735 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr8:61,429,767-61,533,328 Size: 103,562 Coding Exon Count: 8
ID:RAB2A_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-2A; FUNCTION: Required for protein transport from the endoplasmic reticulum to the Golgi complex. SUBUNIT: Interacts with PRKCI. SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Lipid-anchor. Melanosome. Endoplasmic reticulum membrane; Lipid-anchor (Potential). Golgi apparatus membrane; Lipid-anchor (Potential). Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RAB2A CDC HuGE Published Literature: RAB2A Positive Disease Associations: Cholesterol, HDL Related Studies:
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00025 - ADP-ribosylation factor family PF00071 - Ras family PF01926 - 50S ribosome-binding GTPase PF04670 - Gtr1/RagA G protein conserved region PF08477 - Ras of Complex, Roc, domain of DAPkinase
ModBase Predicted Comparative 3D Structure on P61019
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006888 ER to Golgi vesicle-mediated transport GO:0007030 Golgi organization GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0043687 post-translational protein modification