PTCH2 gene homepage

General information
Gene symbol PTCH2
Gene name patched 2
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference NG_013369.1
Transcript reference NM_003738.4
Exon/intron information NM_003738.4 exon/intron table
Associated with diseases BCC-1, BCNS, MDB
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 42
Individuals with public variants 10
Hidden variants 9
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated June 24, 2020
Version PTCH2:200624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003738.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PTCH2
HGNC 9586
Entrez Gene 8643
PubMed articles PTCH2
OMIM - Gene 603673
OMIM - Diseases BCC-1 (carcinoma, basal cell, susceptibility to, type 1 (BCC-1))
BCNS (basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome))
MDB (medulloblastoma (MDB))
HGMD PTCH2
GeneCards PTCH2
GeneTests PTCH2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017083 1 transcript variant 1 NM_003738.4 NP_003729.3 48


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