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FLASH GENE

Symbol

PTCH2

contributors: mct/npt - updated : 11-10-2016

HGNC name	patched homolog 2 (Drosophila)
HGNC id	9586

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	20.00 kb     22 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003738 22 - 3773 NP_003729 - 1203 - 2004 14613484 variant 4 22 - - - - abundantly expressed in all tissues 2004 14613484 lacking the least exon localized in the cytoplasm and were capable of internalizing the N-terminal fragment of Sonic HH (Shh-N) variant 3 21 - - - - in intestine, prostate and cerebellum 2004 14613484 lacking exon 9, which is a part of a conserved sterol-sensing domain localized in the cytoplasm and were capable of internalizing the N-terminal fragment of Sonic HH (Shh-N) NM_001166292 23 - 4298 NP_001159764 - 1148 - 2004 14613484

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Reproductive male system testis       Skin/Tegument skin       highly

cell lineage	highly in spermatocytes
cell lines	high stage neuroblastoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N and C cytoplasmic termini
	twelve membrane spanning segments
	five of them (TM2 to TM6) forming a sterol sensing domain (SSD)
	a proline-rich motif in the C terminal region
	two large hydrophilic extracellular loops

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to Drosophila segment polarity gene patched (PTC) 2
	homolog to murine Ptch2

intraspecies

homolog to PTCH

Homologene

FAMILY

patched family

CATEGORY

signaling , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in SHH/PTCH cell signaling
	having a tumour-suppressor function
	novel role for PTCH2 as a ciliary localized HH pathway antagonist
	essential role for ligand-dependent feedback inhibition of vertebrate HH signaling governed collectively by PTCH1, PTCH2 and HHIP
	potent tumor suppressor with a role in embryonic development
	PTCH1 and PTCH2 co-operate in regulating cellular responses to SHH
	PTCH1/PTCH2 mediate likely secretion of a SMO-inhibitory cholesterol precursor

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	spermatogenesis epidermal differentiation

PATHWAY

metabolism

signaling

neurotransmission

a component

component of a complex with SMOH and likely with Desert hedgehog receptor

INTERACTION

DNA

RNA

small molecule

protein	binding to all hedgehog family members
	receptor for SHH, a secreted molecule implicated in the formation of embryonic structures and as a tumour-suppressor gene
	is a functional SHH receptor, which regulates SMO localization and activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCNS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in basal cell carcinoma and medulloblastoma tumoral germinal mutation       in Naevoid basal cell carcinoma syndrome (NBCCS) constitutional       loss of function concomitant loss of PTCH1 and PTCH2 activity inhibits epidermal lineage specification and differentiation

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

direct link between overproliferation and retinal dysplasia in the ptc2 -/- juvenile zebrafish retina