LMBR1L (limb development membrane protein 1 like)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55716 |
| Gene name | Limb development membrane protein 1 like |
| Gene symbol | LMBR1L |
| Synonyms (NCBI Gene) |
LIMR
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| Chromosome | 12 |
| Chromosome location | 12q13.12 |
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miRNA
miRNA information provided by mirtarbase database.
334
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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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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Q6UX01 | |||||||||||||||
| Protein name | Protein LMBR1L (Limb region 1 protein homolog-like) (Lipocalin-1-interacting membrane receptor) (LIMR) | |||||||||||||||
| Protein function | Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in testis, pituitary gland, adrenal gland, trachea, placenta, thymus, cerebellum, stomach, mammary gland, spinal cord. A weaker expression is detected in colon, pancreas, and prostate. {ECO:0000269|PubMed:11287427}. | |||||||||||||||
| Sequence | ||||||||||||||||
| Sequence length | 489 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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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