Description: Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. RefSeq Summary (NM_012414): The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr1:220,382,749-220,445,843 Size: 63,095 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr1:220,383,721-220,445,679 Size: 61,959 Coding Exon Count: 7
Abdominal Fat Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
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.
Protein Domain and Structure Information
Pfam Domains: PF14655 - Rab3 GTPase-activating protein regulatory subunit N-terminus
ModBase Predicted Comparative 3D Structure on Q9H2M9-2
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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.
AK021928 - Homo sapiens cDNA FLJ11866 fis, clone HEMBA1006973, highly similar to Homo sapiens rab3-GAP regulatory domain mRNA. AF255648 - Homo sapiens rGAP-iso mRNA, complete cds. BC036513 - Homo sapiens cDNA clone IMAGE:4822549, containing frame-shift errors. BC146760 - Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic), mRNA (cDNA clone MGC:166829 IMAGE:9007199), complete cds. AB020646 - Homo sapiens KIAA0839 mRNA for KIAA0839 protein. BC098383 - Homo sapiens cDNA clone IMAGE:30520261, containing frame-shift errors. BC131573 - Homo sapiens cDNA clone IMAGE:40108635. AK291234 - Homo sapiens cDNA FLJ78421 complete cds, highly similar to Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. AF004828 - Homo sapiens rab3-GAP regulatory domain mRNA, complete cds. AB384006 - Synthetic construct DNA, clone: pF1KSDA0839, Homo sapiens RAB3GAP2 gene for RAB3 GTPase-activating protein non-catalytic subunit, complete cds, without stop codon, in Flexi system. BC050630 - Homo sapiens cDNA clone IMAGE:5580410, containing frame-shift errors. JD108759 - Sequence 89783 from Patent EP1572962. JD376199 - Sequence 357223 from Patent EP1572962. JD404897 - Sequence 385921 from Patent EP1572962. JD462534 - Sequence 443558 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9H2M9 (Reactome details) participates in the following event(s):
R-HSA-8850040 RAB3GAP1:RAB3GAP2 recruits RAB18:GCDP to ER R-HSA-8850041 RAB3GAP1:RAB3GAP2 promotes nucleotide exchange on RAB18 R-HSA-8877998 RAB3GAP1:RAB3GAP2 exchanges GTP for GDP on RAB18 R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-9007101 Rab regulation of trafficking R-HSA-199991 Membrane Trafficking R-HSA-5653656 Vesicle-mediated transport