SAMD4A (sterile alpha motif domain containing 4A)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23034 |
| Gene name | Sterile alpha motif domain containing 4A |
| Gene symbol | SAMD4A |
| Synonyms (NCBI Gene) |
SAMD4SMAUGSMAUG1SMGSMGA
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| Chromosome | 14 |
| Chromosome location | 14q22.2 |
| Summary | Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Sma |
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miRNA
miRNA information provided by mirtarbase database.
690
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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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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Q9UPU9 | ||||||||||
| Protein name | Protein Smaug homolog 1 (Smaug 1) (hSmaug1) (Sterile alpha motif domain-containing protein 4A) (SAM domain-containing protein 4A) | ||||||||||
| Protein function | Acts as a translational repressor of SRE-containing messengers. | ||||||||||
| PDB | 8OIK | ||||||||||
| Family and domains |
Pfam
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| Sequence |
MMFRDQVGVLAGWFKGWNECEQTVALLSLLKRVSQTQARFLQLCLEHSLADCAELHVLER |
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| Sequence length | 718 | ||||||||||
| Interactions | View interactions | ||||||||||
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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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Related Genes
Genes most often co-reported with SAMD4A across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SAMD4A (see Related Genes above), that are NOT already directly curated for SAMD4A itself -- a lead worth checking, not a confirmed association.
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