Gene Gene information from NCBI Gene database.
Entrez ID 374308
Gene name Patched domain containing 3 (gene/pseudogene)
Gene symbol PTCHD3
Synonyms (NCBI Gene)
PTRSLC65C3
Chromosome 10
Chromosome location 10p12.1
miRNA miRNA information provided by mirtarbase database.
124
miRTarBase ID miRNA Experiments Reference
MIRT022034 hsa-miR-128-3p Microarray 17612493
MIRT625323 hsa-miR-508-5p HITS-CLIP 23313552
MIRT690698 hsa-miR-6890-3p HITS-CLIP 23313552
MIRT690697 hsa-miR-4267 HITS-CLIP 23313552
MIRT690696 hsa-miR-6840-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA 21439084
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611791 24776 ENSG00000182077
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF02460 Patched 164 760 Patched family Family
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
Sequence length 767
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Asthma Associate 27142222
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Associate 21439084
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 30704464
★☆☆☆☆
Found in Text Mining only