ARHGEF40 (Rho guanine nucleotide exchange factor 40)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55701 |
| Gene name | Rho guanine nucleotide exchange factor 40 |
| Gene symbol | ARHGEF40 |
| Synonyms (NCBI Gene) |
SOLO
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| Chromosome | 14 |
| Chromosome location | 14q11.2 |
| Summary | This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts tha |
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miRNA
miRNA information provided by mirtarbase database.
219
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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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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Q8TER5 | ||||||||||
| Protein name | Rho guanine nucleotide exchange factor 40 (Protein SOLO) | ||||||||||
| Protein function | May act as a guanine nucleotide exchange factor (GEF). | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level). {ECO:0000269|PubMed:16143467}. | ||||||||||
| Sequence |
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| Sequence length | 1519 | ||||||||||
| 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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