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    PTCH2 patched 2 [ Homo sapiens (human) ]

    Gene ID: 8643, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    See PTCH2 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44819845..44843253, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44691074..44714486, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein patched homolog 2
    Names
    patched homolog 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001166292.2NP_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, ENST00000447098.7
      Conserved Domains (2) summary
      TIGR00918
      Location:121142
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam12349
      Location:418570
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    2. NM_003738.5NP_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:121142
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam12349
      Location:418570
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)