Property Summary

NCBI Gene PubMed Count 222
Grant Count 379
R01 Count 218
Funding $49,281,531.17
PubMed Score 1236.44
PubTator Score 612.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (55)

Disease Z-score Confidence
Nevoid basal cell carcinoma syndrome 9 8.36 4.0
Focal dermal hypoplasia 9 6.682 3.3
Cancer 2,346 5.591 2.8
Fibroma 16 4.325 2.2
Holoprosencephaly 52 4.213 2.1
Goldenhar syndrome 19 4.09 2.0
Polydactyly 93 3.81 1.9
Ameloblastoma 25 3.806 1.9
Testicular thecoma 1 3.689 1.8
Angioma serpiginosum 3 3.63 1.8
Xeroderma pigmentosum 41 3.417 1.7
Cleft Lip 91 3.404 1.7
Pallister-Hall syndrome 11 3.239 1.6
Familial adenomatous polyposis 31 3.171 1.6
Multiple endocrine neoplasia type 2A 22 3.121 1.6
Tinea capitis 12 3.088 1.5
Synostosis 18 3.079 1.5
Adenoma 165 3.046 1.5
Alobar Holoprosencephaly 14
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO,... 1 
Basal Cell Nevus Syndrome 4
Basal cell carcinoma 29
Brain Neoplasms 23
Breast cancer 3,094
Carcinoma 2,147 1.0
Chronic obstructive pulmonary disease 146 2.0
Cleft palate 125
Craniofacial Abnormalities 147
Endometriosis 535
HIV Infections 100
HOLOPROSENCEPHALY 7 1
Lobar Holoprosencephaly 14
Neuroectodermal Tumor, Primitive 8
Pancreatic Neoplasm 79
Pulmonary function (finding) 33
Rhabdomyosarcoma 29
SOLITARY MEDIAN MAXILLARY CENTRAL INCISO... 14 
Semilobar Holoprosencephaly 14
Skin Neoplasms 49
Skin cancer 37 1.0
atypical teratoid / rhabdoid tumor 4,369
breast carcinoma 1,614
gastric cancer 430
interstitial cystitis 2,299
invasive ductal carcinoma 2,950
lung cancer 4,466
malignant mesothelioma 3,162
medulloblastoma 1,524
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
primary pancreatic ductal adenocarcinoma 1,271
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (16)

Disease log2 FC p
gastric cancer 1.200 0.002
malignant mesothelioma 4.200 0.000
psoriasis -1.800 0.000
osteosarcoma 1.842 0.005
sonic hedgehog group medulloblastoma 2.200 0.000
atypical teratoid / rhabdoid tumor 1.400 0.002
primary pancreatic ductal adenocarcinoma 1.513 0.027
lung cancer 1.400 0.000
interstitial cystitis -2.300 0.000
subependymal giant cell astrocytoma -4.132 0.004
Endometriosis 1.230 0.048
breast carcinoma -1.400 0.000
Breast cancer -2.200 0.000
invasive ductal carcinoma -2.000 0.004
ovarian cancer -2.200 0.000
pancreatic cancer 1.100 0.014

Synonym

Accession Q13635 A3KBI9 E9PEJ8 Q13463 Q5R1U7 Q5R1U9 Q5R1V0 Q5VZC0 Q5VZC2 Q86XG7 PTC
Symbols PTC
BCNS
HPE7
PTC1
PTCH
NBCCS
PTCH11

Gene

PANTHER Protein Class (1)

 IMPC Term (1)

Gene RIF (184)

PMID Text
27245001 after 20 years of the molecular and epidemiological research of RET/PTC in thyroid radiogenic carcinomas the comprehensive evidence of the dose-effect dependence existence indicating a real relationship between the studied parameters and radiation factor
27125030 The Cytoskeletal Protein Zyxin Interacts with the Hedgehog Receptor Patched
26997450 Increased SHH, PTCH, and GLI1 protein correlated positively with tumor grade, tumor depth and lymph node metastasis in Peutz-Jeghers syndrome.
26733130 A genome-wide association study of bone mineral density (BMD) found a new BMD locus that harbors the PTCH1 gene, that associates with reduced spine BMD and the RSPO3 associates with increased spine BMD.
26290144 The results do not support our hypothesis that common germline genetic variants in the PTCH1 genes is associated with the risk of developing medulloblastoma.
26189965 Melittin induces PTCH1 expression by down-regulating MeCP2 and blocking Shh signaling in human hepatocellular carcinoma cells.
26126827 Calcitriol represents a possible endogenous transmitter of Ptch/Smo interaction.
26038600 results indicate that whereas ciliary localization of Patched is essential for suppression of Smoothened activation, the primary event enabling Smoothened activation
25826662 PTCH1 expression is regulated by different 5' untranslated region cis-regulatory elements.
25727044 In this study we presented two cases with Gorlin syndrome. Molecular analysis of the patients showed two frameshift and one nonsense mutations in PTCH1 gene (two germline and one somatic), all of them novel.
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AA Sequence

MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKA      1 - 70
TGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSREL     71 - 140
NYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELI    141 - 210
TETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEE    211 - 280
MLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNS    281 - 350
TGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL    351 - 420
SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSL    421 - 490
IGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFF    491 - 560
MAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAY    561 - 630
TDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQ    631 - 700
SPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTR    701 - 770
VRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL    771 - 840
PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDA    841 - 910
DGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNG    911 - 980
LRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNP    981 - 1050
WTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALE   1051 - 1120
HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGL   1121 - 1190
NRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE   1191 - 1260
NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGH   1261 - 1330
SGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPG   1331 - 1400
YPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN                          1401 - 1447
//

Text Mined References (224)

PMID Year Title
27245001 [Dose-Response Dependences for Frequency of RET/PTC Gene Rearrangements in Papillary Thyroid Carcinoma after Irradiation. Simple Pooling Analysis of Molecular Epidemiological Data].
27125030 [The Cytoskelrtal Protein Zvxin Interacts with the Hedgehog Receptor Patched].
26997450 2016 Aberrant expression of Sonic hedgehog signaling in Peutz-Jeghers syndrome.
26733130 2016 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
26290144 2015 CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.
26189965 2015 Melittin induces PTCH1 expression by down-regulating MeCP2 in human hepatocellular carcinoma SMMC-7721 cells.
26126827 2015 A Functional and Putative Physiological Role of Calcitriol in Patched1/Smoothened Interaction.
26038600 2015 The role of ciliary trafficking in Hedgehog receptor signaling.
25826662 2015 Regulation of human PTCH1b expression by different 5' untranslated region cis-regulatory elements.
25727044 2015 Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.
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