Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	374308
Gene name	Patched domain containing 3 (gene/pseudogene)
Gene symbol	PTCHD3
Synonyms (NCBI Gene)	PTRSLC65C3
Chromosome	10
Chromosome location	10p12.1

124

Show/Hide all (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
MIRT690695	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT690694	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT690693	hsa-miR-4726-3p	HITS-CLIP	23313552
MIRT690692	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT690691	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT690690	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT690689	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT690688	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT690687	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT690686	hsa-miR-2116-3p	HITS-CLIP	23313552
MIRT690685	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT690684	hsa-miR-1976	HITS-CLIP	23313552
MIRT690683	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT690682	hsa-miR-4713-5p	HITS-CLIP	23313552
MIRT690681	hsa-miR-4279	HITS-CLIP	23313552
MIRT690680	hsa-miR-498	HITS-CLIP	23313552
MIRT625323	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT625321	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT625323	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT625321	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT625320	hsa-miR-7703	HITS-CLIP	23824327
MIRT617902	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT617901	hsa-miR-4251	HITS-CLIP	23824327
MIRT617900	hsa-miR-4329	HITS-CLIP	23824327
MIRT617899	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT617898	hsa-miR-3655	HITS-CLIP	23824327
MIRT617897	hsa-miR-4294	HITS-CLIP	23824327
MIRT617895	hsa-miR-4303	HITS-CLIP	23824327
MIRT617896	hsa-miR-578	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT690688	hsa-miR-150-5p	PAR-CLIP	27292025
MIRT690695	hsa-miR-1915-3p	PAR-CLIP	27292025
MIRT690684	hsa-miR-1976	PAR-CLIP	27292025
MIRT690686	hsa-miR-2116-3p	PAR-CLIP	27292025
MIRT690685	hsa-miR-3653-5p	PAR-CLIP	27292025
MIRT690681	hsa-miR-4279	PAR-CLIP	27292025
MIRT690682	hsa-miR-4713-5p	PAR-CLIP	27292025
MIRT690692	hsa-miR-4722-3p	PAR-CLIP	27292025
MIRT690693	hsa-miR-4726-3p	PAR-CLIP	27292025
MIRT690680	hsa-miR-498	PAR-CLIP	27292025
MIRT690687	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT690691	hsa-miR-6727-3p	PAR-CLIP	27292025
MIRT690690	hsa-miR-6747-3p	PAR-CLIP	27292025
MIRT690694	hsa-miR-6764-5p	PAR-CLIP	27292025
MIRT690696	hsa-miR-6840-3p	PAR-CLIP	27292025
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
MIRT690695	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT690694	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT690693	hsa-miR-4726-3p	HITS-CLIP	23313552
MIRT690692	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT690691	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT690690	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT690689	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT690688	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT690687	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT690686	hsa-miR-2116-3p	HITS-CLIP	23313552
MIRT690685	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT690684	hsa-miR-1976	HITS-CLIP	23313552
MIRT690683	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT690682	hsa-miR-4713-5p	HITS-CLIP	23313552
MIRT690681	hsa-miR-4279	HITS-CLIP	23313552
MIRT690680	hsa-miR-498	HITS-CLIP	23313552
MIRT625323	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT625321	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT625323	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625322	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT625321	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT625320	hsa-miR-7703	HITS-CLIP	23824327
MIRT617902	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT617901	hsa-miR-4251	HITS-CLIP	23824327
MIRT617900	hsa-miR-4329	HITS-CLIP	23824327
MIRT617899	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT617898	hsa-miR-3655	HITS-CLIP	23824327
MIRT617897	hsa-miR-4294	HITS-CLIP	23824327
MIRT617895	hsa-miR-4303	HITS-CLIP	23824327
MIRT617896	hsa-miR-578	HITS-CLIP	23824327
MIRT617894	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT617893	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT617892	hsa-miR-3606-5p	HITS-CLIP	23824327
MIRT617891	hsa-miR-921	HITS-CLIP	23824327
MIRT617890	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT617889	hsa-miR-6720-5p	HITS-CLIP	23824327

Show/Hide all (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
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0097225	Component	Sperm midpiece	IDA	17904097
GO:0097225	Component	Sperm midpiece	IEA

MIM	HGNC	e!Ensembl
611791	24776	ENSG00000182077

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

MPWVEPKPRPGPEQKPKLTKPDSATGPQWYQESQESESEGKQPPPGPLAPPKSPEPSGPL
ASEQDAPLPEGDDAPPRPSMLDDAPRLPLELDDAPLPEEETPEPTAICRHRHRCHTDCLE
GLLSRTFQWLGWQVGAHPWIFLLAPLMLTAALGTGFLYLPKDEEEDLEEHYTPVGSPAKA
ERRFVQGHFTTNDSYRFSASRRSTEANFVSLLVVSYSDSLLDPATFAEVSKLDGAVQDLR
VAREKGSQIQYQQVCARYRALCVPPNPILYAWQVNKTLNLSSISFPAYNHGRHPLYLTGF
FGGYILGGSLGMGQLLLRAKAMRLLYYLKTEDPEYDVQSKQWLTHLLDQFTNIKNILALK
KIEVVHFTSLSRQLEFEATSVTVIPVFHLAYILIILFAVTSCFRFDCIRNKMCVAAFGVI
SAFLAVVSGFGLLLHIGVPFVIIVANSPFLILGVGVDDMFIMISAWHKTNLADDIRERMS
NVYSKAAVSITITTITNILALYTGIMSSFRSVQCFCIYTGMTLLFCYFYNITCFGAFMAL
DGKREVVCLCWLKKADPKWPSFKKFCCFPFGSVPDEHGTDIHPISLFFRDYFGPFLTRSE
SKYFVVFIYVLYIISSIYGCFHVQEGLDLRNLASDDSYITPYFNVEENYFSDYGPRVMVI
VTKKVDYWDKDVRQKLENCTKIFEKNVYVDKNLTEFWLDAYVQYLKGNSQDPNEKNTFMN
NIPDFLSNFPNFQHDINISSSNEIISSRGFIQTTDVSSSAKKKILLF

Sequence length

767

Interactions

View interactions

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	27142222		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	27142222	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	21439084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21439084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29214788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	21439084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31573569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29108341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	28873560		★★★★★ ★☆☆☆☆ Found in Text Mining only

PTCHD3 (patched domain containing 3 (gene/pseudogene))