RAP1GAP2 (RAP1 GTPase activating protein 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23108 |
| Gene name | RAP1 GTPase activating protein 2 |
| Gene symbol | RAP1GAP2 |
| Synonyms (NCBI Gene) |
GARNL4RAP1GA3
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| Chromosome | 17 |
| Chromosome location | 17p13.3 |
| Summary | This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at site |
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miRNA
miRNA information provided by mirtarbase database.
353
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q684P5 | ||||||||||
| Protein name | Rap1 GTPase-activating protein 2 (Rap1GAP2) (GTPase-activating Rap/Ran-GAP domain-like protein 4) | ||||||||||
| Protein function | GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in platelets with isoform 2 being the predominant form. Expressed in lymphocytes, heart, testis and pancreas. {ECO:0000269|PubMed:15632203}. | ||||||||||
| Sequence |
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| Sequence length | 730 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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