EGFLAM (EGF like, fibronectin type III and laminin G domains)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 133584 |
| Gene name | EGF like, fibronectin type III and laminin G domains |
| Gene symbol | EGFLAM |
| Synonyms (NCBI Gene) |
AGRINLAGRNLPIKA
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| Chromosome | 5 |
| Chromosome location | 5p13.2-p13.1 |
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miRNA
miRNA information provided by mirtarbase database.
220
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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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Q63HQ2 | ||||||||||||||||||||||||||||||||||||||||
| Protein name | Pikachurin (Agrin-like protein) (EGF-like, fibronectin type-III and laminin G-like domain-containing protein) | ||||||||||||||||||||||||||||||||||||||||
| Protein function | Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglyc | ||||||||||||||||||||||||||||||||||||||||
| PDB | 7ZC9 , 7ZCB , 8D1B | ||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
MDLIRGVLLRLLLLASSLGPGAVSLRAAIRKPGKVGPPLDIKLGALNCTAFSIQWKMPRH |
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| Sequence length | 1017 | ||||||||||||||||||||||||||||||||||||||||
| 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 EGFLAM across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to EGFLAM (see Related Genes above), that are NOT already directly curated for EGFLAM itself -- a lead worth checking, not a confirmed association.
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