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PTCH2 patched 2 [ Homo sapiens (human) ]

Gene ID: 8643, updated on 31-Mar-2024

Summary

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Official Symbol
PTCH2provided by HGNC
Official Full Name
patched 2provided by HGNC
Primary source
HGNC:HGNC:9586
See related
Ensembl:ENSG00000117425 MIM:603673; AllianceGenome:HGNC:9586
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTC2
Summary
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]
Expression
Biased expression in salivary gland (RPKM 12.5), testis (RPKM 11.4) and 10 other tissues See more
Orthologs
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Genomic context

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Location:
1p34.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44819845..44843253, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44691074..44714486, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45285517..45308925, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45271492-45272342 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:45272786-45273985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45274044-45274893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 821 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:45284771-45285427 and GRCh37_chr1:45285428-45286084 Neighboring gene uncharacterized LOC107984952 Neighboring gene polo like kinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45286741-45287398 Neighboring gene dynein light chain Tctex-type 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45287399-45288054 Neighboring gene BTB domain containing 19 Neighboring gene RNA, U5E small nuclear 6, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45301586-45302086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 822 Neighboring gene eukaryotic translation initiation factor 2B subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45341567-45342238 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45342239-45342910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45342911-45343582 Neighboring gene MPRA-validated peak197 silencer Neighboring gene RNA, 5S ribosomal pseudogene 47 Neighboring gene cyclin B1 interacting protein 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway. Han J, et al. Biochem Biophys Res Commun, 2022 Oct 30. PMID 36027694
  2. PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. Smith MJ, et al. Fam Cancer, 2022 Jul. PMID 34170463, Free PMC Article
  3. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Fujii K, et al. Fam Cancer, 2013 Dec. PMID 23479190
  4. A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. Fan Z, et al. Am J Med Genet A, 2009 Mar. PMID 19208383
  5. Distinct roles of PTCH2 splice variants in Hedgehog signalling. Rahnama F, et al. Biochem J, 2004 Mar 1. PMID 14613484, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
    Title: Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
  2. Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway.
    Title: Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway.
  3. PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
    Title: PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
  4. Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
    Title: Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
  5. [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
    Title: [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
  6. Pds5b/Ptch2 axis regulates cell proliferation and invasion in pancreatic tumor cells.
    Title: PDS5B regulates cell proliferation and motility via upregulation of Ptch2 in pancreatic cancer cells.
  7. The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN.
    Title: Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
  8. Our data extend these observations and demonstrate a significant increase in Ptch2 expression in the obstructive UPJ segments in a subset of patients with congenital UPJO.
    Title: Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction.
  9. Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma.
    Title: Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
  10. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
    Title: Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Basal cell carcinoma, susceptibility to, 1
MedGen: C2751544 OMIM: 605462 GeneReviews: Not available
Compare labs
Medulloblastoma
MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hedgehog family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hedgehog family protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables hedgehog family protein binding TAS
Traceable Author Statement
more info
 PubMed 
enables hedgehog receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hedgehog receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables smoothened binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables smoothened binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell fate determination IEA
Inferred from Electronic Annotation
more info
  
involved_in epidermal cell fate specification IEA
Inferred from Electronic Annotation
more info
  
involved_in hair cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of epidermal cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skin development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 2
Names
patched homolog 2

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.

Genomic

  1. NG_013369.1 RefSeqGene

    Range
    4692..26007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166292.2 → NP_001159764.1  protein patched homolog 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA781365, AF119569, AI798853, AL136380, AY359016, BX089003
    Consensus CDS
    CCDS53312.1
    UniProtKB/Swiss-Prot
    Q9Y6C5
    Related
    ENSP00000389703.2, ENST00000447098.6
    Conserved Domains (2) summary
    TIGR00918
    Location:12 → 1142
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:418 → 570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

  2. NM_003738.5 → NP_003729.3  protein patched homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_003729.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF119569, AL136380, AL592166, AY359016
    Consensus CDS
    CCDS516.1
    UniProtKB/Swiss-Prot
    O95341, O95856, Q53Z57, Q5QP87, Q6UX14, Q9Y6C5
    Related
    ENSP00000361266.3, ENST00000372192.4
    Conserved Domains (2) summary
    TIGR00918
    Location:12 → 1142
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:418 → 570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    44819845..44843253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    44691074..44714486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6C5.2 GenPept UniProtKB/Swiss-Prot:Q9Y6C5

Gene LinkOut

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