ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	PTCH1
Previous Symbol	NBCCS, PTCH
Symbol Alias	BCNS
Approved Name	patched 1
Previous Name	patched (Drosophila) homolog, "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"
Location	9q22.1-q31
Position	chr9:98205262-98279339, -
External Links	HGNC: 9585 Entrez Gene: 5727 Ensembl: ENSG00000185920 UCSC: uc004avk.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
9q22	chr9:90400000-102600000	3 (1/1/1)

Gene related GO terms (count: 54)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 54)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0072001	renal system development	Biological Process	IEP[17850284]	2
GO:0072203	cell proliferation involved in metanephros development	Biological Process		1
GO:0072661	protein targeting to plasma membrane	Biological Process	IDA[11278759]	5
GO:0097108	hedgehog family protein binding	Molecular Function	IPI[9811851]	1
GO:0060644	mammary gland epithelial cell differentiation	Biological Process		2
GO:0061005	cell differentiation involved in kidney development	Biological Process		1
GO:0061053	somite development	Biological Process	IMP[8681379]	2
GO:0071397	cellular response to cholesterol	Biological Process	IMP[11278759]	2
GO:0050680	negative regulation of epithelial cell proliferation	Biological Process		5
GO:0051782	negative regulation of cell division	Biological Process		1
GO:0060037	pharyngeal system development	Biological Process	IMP[8981943]	5
GO:0060603	mammary gland duct morphogenesis	Biological Process		1
GO:0045668	negative regulation of osteoblast differentiation	Biological Process	IMP[16229683]	6
GO:0043616	keratinocyte proliferation	Biological Process		4
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[11278759]	87
GO:0045879	negative regulation of smoothened signaling pathway	Biological Process	TAS[11001584]	2
GO:0042593	glucose homeostasis	Biological Process		18
GO:0040015	negative regulation of multicellular organism growth	Biological Process		6
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	Biological Process	IMP[16229683]	6
GO:0043231	intracellular membrane-bounded organelle	Cellular Component	IDA[11278759]	62
GO:0032880	regulation of protein localization	Biological Process		5
GO:0032403	protein complex binding	Molecular Function		27
GO:0035137	hindlimb morphogenesis	Biological Process		2
GO:0035108	limb morphogenesis	Biological Process	IMP[8681379]	2
GO:0030326	embryonic limb morphogenesis	Biological Process		8
GO:0021997	neural plate axis specification	Biological Process		2
GO:0030496	midbody	Cellular Component		14
GO:0030332	cyclin binding	Molecular Function	IPI[11331587]	4
GO:0010875	positive regulation of cholesterol efflux	Biological Process		2
GO:0015485	cholesterol binding	Molecular Function		10
GO:0009953	dorsal/ventral pattern formation	Biological Process		12
GO:0010157	response to chlorate	Biological Process		1
GO:0021532	neural tube patterning	Biological Process	IMP[8681379]	1
GO:0021904	dorsal/ventral neural tube patterning	Biological Process		1
GO:0016021	integral to membrane	Cellular Component		845
GO:0016485	protein processing	Biological Process		8
GO:0007420	brain development	Biological Process		33
GO:0008158	hedgehog receptor activity	Molecular Function		4
GO:0007224	smoothened signaling pathway	Biological Process	IEP[17850284]	10
GO:0007346	regulation of mitotic cell cycle	Biological Process		6
GO:0008589	regulation of smoothened signaling pathway	Biological Process		3
GO:0009887	organ morphogenesis	Biological Process		19
GO:0008201	heparin binding	Molecular Function		26
GO:0008544	epidermis development	Biological Process		12
GO:0005119	smoothened binding	Molecular Function	IPI[9811851]	1
GO:0005113	patched binding	Molecular Function		2
GO:0003007	heart morphogenesis	Biological Process		5
GO:0001843	neural tube closure	Biological Process		10
GO:0005901	caveola	Cellular Component	IDA[11278759]	12
GO:0005886	plasma membrane	Cellular Component	IDA[12635140]	772
GO:0005794	Golgi apparatus	Cellular Component	IDA[11278759]	157
GO:0005515	protein binding	Molecular Function	IPI[11278759]	910
GO:0001658	branching involved in ureteric bud morphogenesis	Biological Process		8
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process	IMP[16229683]	78

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04340	Hedgehog signaling pathway	8	The Hedgehog (Hh) family of secreted signaling proteins play...... The Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and organs. Hh signaling is also involved in control of stem cell proliferation in adult tissues and aberrant activation of the Hh pathway has been linked to multiple types of human cancer. Members of the Hh family bind to patched (ptc), thus releasing smoothened (smo) to transduce a signal. Transcriptional activation occurs through the GLI family of proteins resulting in activation of target genes. More...
hsa05217	Basal cell carcinoma	8	Cancer of the skin is the most common cancer in Caucasians a...... Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC. More...
hsa05200	Pathways in cancer	52

Genes shared at least 5 GO terms with PTCH1 (count: 17)

Gene Symbol	Pathway Count	Pathway List
TMED2	6	protein targeting to plasma membrane; intracellular membrane-bounded organelle; integral to membrane; neural tube closure; Golgi apparatus; protein binding;
CTGF	6	perinuclear region of cytoplasm; intracellular membrane-bounded organelle; heparin binding; epidermis development; plasma membrane; Golgi apparatus;
NPC1	6	perinuclear region of cytoplasm; cholesterol binding; integral to membrane; hedgehog receptor activity; Golgi apparatus; protein binding;
IHH	5	somite development; cholesterol binding; smoothened signaling pathway; patched binding; plasma membrane;
LRP5	5	negative regulation of osteoblast differentiation; embryonic limb morphogenesis; integral to membrane; plasma membrane; protein binding;
MEN1	5	negative regulation of osteoblast differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; brain development; protein binding; negative regulation of transcription from RNA polymerase II promoter;
CDK5RAP2	5	perinuclear region of cytoplasm; protein complex binding; brain development; Golgi apparatus; protein binding;
PDE2A	5	perinuclear region of cytoplasm; plasma membrane; Golgi apparatus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
PICALM	5	perinuclear region of cytoplasm; intracellular membrane-bounded organelle; regulation of protein localization; Golgi apparatus; protein binding;
STX6	5	perinuclear region of cytoplasm; integral to membrane; plasma membrane; Golgi apparatus; protein binding;
CAV3	5	glucose homeostasis; protein complex binding; caveola; plasma membrane; protein binding;
STS	5	intracellular membrane-bounded organelle; integral to membrane; epidermis development; plasma membrane; Golgi apparatus;
FLCN	5	protein complex binding; midbody; plasma membrane; protein binding; negative regulation of transcription from RNA polymerase II promoter;
STRN3	5	protein complex binding; plasma membrane; Golgi apparatus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
TMED10	5	protein complex binding; integral to membrane; plasma membrane; Golgi apparatus; protein binding;
DYNC2H1	5	embryonic limb morphogenesis; dorsal/ventral pattern formation; protein processing; plasma membrane; Golgi apparatus;
ABCA1	5	positive regulation of cholesterol efflux; cholesterol binding; plasma membrane; Golgi apparatus; protein binding;

Genes shared at least 2 KEGG pathways with PTCH1 (count: 7)

Gene Symbol	Pathway Count	Pathway List
GSK3B	3	Hedgehog signaling pathway; Basal cell carcinoma; Pathways in cancer;
STK36	3	Hedgehog signaling pathway; Basal cell carcinoma; Pathways in cancer;
WNT10A	3	Hedgehog signaling pathway; Basal cell carcinoma; Pathways in cancer;
WNT11	3	Hedgehog signaling pathway; Basal cell carcinoma; Pathways in cancer;
WNT6	3	Hedgehog signaling pathway; Basal cell carcinoma; Pathways in cancer;
APC	2	Basal cell carcinoma; Pathways in cancer;
FZD4	2	Basal cell carcinoma; Pathways in cancer;

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Region: chr9:98205262..98279339 View in gBrowse