ptch2 patched 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ptch2provided by ZNC
Official Full Name: patched 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-44
See related: Ensembl:ENSDARG00000055026 AllianceGenome:ZFIN:ZDB-GENE-980526-44
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: blw; ptc1; ptc-1; ptch1; blowout; etlD309849.2
Summary: Predicted to enable hedgehog family protein binding activity; hedgehog receptor activity; and smoothened binding activity. Acts upstream of or within several processes, including negative regulation of smoothened signaling pathway; osteoblast differentiation; and retinal ganglion cell axon guidance. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; digestive system; head; mesoderm; and musculature system. Used to study coloboma. Human ortholog(s) of this gene implicated in basal cell carcinoma and medulloblastoma. Orthologous to human PTCH2 (patched 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (33969212..33993636, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (33985994..34010418, complement)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We have identified 18 recessive mutations affecting development of the zebrafish visual system and we have characterized a novel splice-acceptor site mutation in patched2 that results in enhanced Hh pathway activity and colobomas.
Title: An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas.
Results demonstrate a direct link between overproliferation and retinal dysplasia in the ptc2-/- juvenile retina and establish ectopic proliferation as the likely cellular underpinning of retinal dysplasia in juvenile ptc2-/- mutants.
Title: Ectopic proliferation contributes to retinal dysplasia in the juvenile zebrafish patched2 mutant eye.
The Hedgehog co-receptors patched1 and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
Title: Hedgehog signalling is required for perichondral osteoblast differentiation in zebrafish.
Positional cloning of blowout identified a nonsense mutation in patched1, a negative regulator of the Hedgehog pathway, as the underlying cause of the blowout phenotype.
Title: Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye.
The generation and characterization of the ptc1;ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Title: Genetic analysis of the two zebrafish patched homologues identifies novel roles for the hedgehog signaling pathway.

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General gene information

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Markers

G39394 (e-PCR)
- UniSTS:30859

ptc1 (e-PCR), detects polymorphism
- UniSTS:187023

ptc1 (e-PCR), detects polymorphism
- UniSTS:205526

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables hedgehog family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables hedgehog receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables hedgehog receptor activity	IEA Inferred from Electronic Annotation more info
enables smoothened binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardioblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of muscle organ development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal ganglion cell axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein patched homolog 1

Names: etID309849.2; patched 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_130988.2 → NP_571063.2 protein patched homolog 1

Status: VALIDATED

Source sequence(s)

BX649493

UniProtKB/Swiss-Prot

Q98864

UniProtKB/TrEMBL

A0A8M1P6L9, F1Q8S0

Related

ENSDARP00000071771.4, ENSDART00000077304.6

Conserved Domains (3) summary

TIGR00918
Location:31 → 1182

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:445 → 595

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

cl00456
Location:1004 → 1151

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain