PTCHD3 (patched domain containing 3 (gene/pseudogene))
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 374308 |
| Gene name | Patched domain containing 3 (gene/pseudogene) |
| Gene symbol | PTCHD3 |
| Synonyms (NCBI Gene) |
PTRSLC65C3
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| Chromosome | 10 |
| Chromosome location | 10p12.1 |
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miRNA
miRNA information provided by mirtarbase database.
124
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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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Q3KNS1 | ||||||||||
| Protein name | Patched domain-containing protein 3 (Patched-related protein) | ||||||||||
| Protein function | May play a role in sperm development or sperm function (PubMed:17904097). However, does not appear to have an essential role in spermatogenesis or male fertility (PubMed:21439084). | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in germ cells of the testis (at protein level) (PubMed:17904097). Detected in blood lymph, colon, small intestine, ovary, testis, prostate, thymus and spleen with highest levels in testis (PubMed:21439084). {ECO:0000269|PubMe | ||||||||||
| Sequence |
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| Sequence length | 767 | ||||||||||
| 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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