Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | PTCH2 | contributors: mct/npt - updated : 11-10-2016 |
HGNC name | patched homolog 2 (Drosophila) |
HGNC id | 9586 |
|
EXPRESSION |
Type | restricted |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
cell lineage | highly in spermatocytes |
cell lines | high stage neuroblastoma cell lines |
fluid/secretion |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
conjugated | GlycoP |
HOMOLOGY |
interspecies | homolog to Drosophila segment polarity gene patched (PTC) 2 |
homolog to murine Ptch2 |
intraspecies | homolog to PTCH |
Homologene |
FAMILY |
CATEGORY | signaling , receptor |
SUBCELLULAR LOCALIZATION | plasma membrane |
CELLULAR PROCESS | cell organization/biogenesis |
PHYSIOLOGICAL PROCESS |
text | spermatogenesis epidermal differentiation |
PATHWAY |
metabolism |
signaling | neurotransmission |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | BCNS |
Susceptibility | to macrostomia |
Variant & Polymorphism other | germline PTCH2 mutation (1423G A, resulting in Val471Ile) mutation may be associated with macrostomia (fan 2009) |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |