Property Summary

NCBI Gene PubMed Count 14
Grant Count 30
R01 Count 21
Funding $2,613,745.41
PubMed Score 47.58
PubTator Score 43.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
facioscapulohumeral dystrophy 1.800 0.008

Gene RIF (7)

PMID Text
23479190 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
20634891 Observational study of gene-disease association. (HuGE Navigator)
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19221557 Observational study of gene-disease association. (HuGE Navigator)
19208383 A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported.
18285427 PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway.
14613484 PTCH2 isoforms have distinct roles in Hedgehog signalling.

AA Sequence

MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALA      1 - 70
LGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAAL     71 - 140
TASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPD    141 - 210
IQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELS    211 - 280
GGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQAST    281 - 350
VLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ    351 - 420
SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQER    421 - 490
MGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQ    491 - 560
RLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDP    561 - 630
LGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLS    631 - 700
LYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVL    701 - 770
PPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT    771 - 840
TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQF    841 - 910
PFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCA    911 - 980
LLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLR    981 - 1050
AAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEV   1051 - 1120
IQMYKESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSS   1121 - 1190
GNLSSRGPGPATG                                                            1191 - 1203
//

Publication (14)

PMID Year Title
23479190 2013 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
19221557 2009 [Studies on keratocystic odontogenic tumors].
19208383 2009 A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.
18285427 2008 A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
14613484 2004 Distinct roles of PTCH2 splice variants in Hedgehog signalling.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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