PTCH2:Protein patched homolog 2

Gene Name
Protein patched homolog 2
Protein ID
Q9Y6C5
Chromosome ID
1
HPP Status
2
Protein Name
Protein patched homolog 2
Synonyms

patched homolog 2

PTC2

patched homolog 2 (Drosophila)

protein patched homolog 2

patched 2

patched (Drosophila) homolog 2


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2 ]
Chromosomal Position
1p34.1 | Start:44819844 End:44819844
Sequence
Q9Y6C5.fasta
Description

Entrez Gene Summary for PTCH2
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.(provided by RefSeq, Oct 2009)

UniProtKB Summary for PTCH2
Function: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2 ]
External IDs
Hgnc ID: 9586 EntrezGene ID: 8643 Ensembl ID: ENSG00000117425
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
14613484PTCH2 isoforms have distinct roles in Hedgehog signalling.2010-01-21
18285427PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway.2010-01-21
19208383A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported.2010-01-21
19221557Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19237606Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2009-03-25
20634891Observational study of gene-disease association. (HuGE Navigator)2010-09-15
23479190Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.2014-07-05
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
PTC2_HUMANIPR003392GO:0008158FamilyPatchedMolecular Functionhedgehog receptor activity
PTC2_HUMANIPR003392GO:0016020FamilyPatchedCellular Componentmembrane
PTC2_HUMANIPR004766GO:0008158FamilyTransmembrane receptor, patchedMolecular Functionhedgehog receptor activity
PTC2_HUMANIPR004766GO:0016021FamilyTransmembrane receptor, patchedCellular Componentintegral to membrane
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

KEGG Pathways

Pathway IDDatabase NamePathway Name
hsa04340KEGG PATHWAYHedgehog signaling pathway
hsa05200KEGG PATHWAYPathways in cancer
hsa05217KEGG PATHWAYBasal cell carcinoma
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




gpmDB

Evidence File
/mnt/mpp/ms_data/Q9Y6C5_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


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PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
VQVSLYGK20.93,Mascot:score;0.0185388890077532,Mascot:expectation;PXD000039_27349_4179_Q9Y6C5_VQVSLYGKPXD000039;PRIDE_Exp_Complete_Ac_27349.xml;spectrum=4179
Evidence File
/mnt/mpp/ms_data/Q9Y6C5_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q9Y6C5_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB