C3orf52 (chromosome 3 open reading frame 52)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79669 |
| Gene name | Chromosome 3 open reading frame 52 |
| Gene symbol | C3orf52 |
| Synonyms (NCBI Gene) |
HYPT15TTMP
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| Chromosome | 3 |
| Chromosome location | 3q13.2 |
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miRNA
miRNA information provided by mirtarbase database.
133
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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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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Q5BVD1 | |
| Protein name | TPA-induced transmembrane protein | |
| Protein function | Has a role in LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA). LPA is a bioactive lipid mediator involved in different biological processes, and necessary to promote hair formation and growth. | |
| Family and domains | ||
| Tissue specificity | TISSUE SPECIFICITY: Detected predominantly in the skin, with strongest expression in the inner root sheath of the hair follicle. {ECO:0000269|PubMed:32336749}. | |
| Sequence |
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| Sequence length | 217 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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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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