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Aliases for PTCHD2 Gene

Aliases for PTCHD2 Gene

  • Patched Domain Containing 2 2 3
  • DISP3 3 4 6
  • Protein Dispatched Homolog 3 3 4
  • KIAA1337 4 6
  • Patched Domain-Containing Protein 2 3
  • Dispatched 3 3

External Ids for PTCHD2 Gene

Previous GeneCards Identifiers for PTCHD2 Gene

  • GC01P011442
  • GC01P010692

Summaries for PTCHD2 Gene

GeneCards Summary for PTCHD2 Gene

PTCHD2 (Patched Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is DISP2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCHD2 Gene

Genomics for PTCHD2 Gene

Regulatory Elements for PTCHD2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTCHD2 Gene

11,479,166 bp from pter
11,537,584 bp from pter
58,419 bases
Plus strand

Genomic View for PTCHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTCHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD2 Gene

Proteins for PTCHD2 Gene

  • Protein details for PTCHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patched domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q5VTU9
    • Q9UJD6

    Protein attributes for PTCHD2 Gene

    1392 amino acids
    Molecular mass:
    153048 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92575.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB55303.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70606.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22474.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PTCHD2 Gene


neXtProt entry for PTCHD2 Gene

Proteomics data for PTCHD2 Gene at MOPED

Post-translational modifications for PTCHD2 Gene

  • Glycosylation at Asn163 and Asn1021
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTCHD2 Gene

Domains for PTCHD2 Gene

Protein Domains for PTCHD2 Gene


Suggested Antigen Peptide Sequences for PTCHD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SSD (sterol-sensing) domain.
  • Belongs to the patched family.
  • Contains 1 SSD (sterol-sensing) domain.
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCHD2: view

No data available for Gene Families for PTCHD2 Gene

Function for PTCHD2 Gene

Gene Ontology (GO) - Molecular Function for PTCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008158 hedgehog receptor activity IEA --
genes like me logo Genes that share ontologies with PTCHD2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCHD2

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PTCHD2 Gene

Localization for PTCHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCHD2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for PTCHD2 Gene COMPARTMENTS Subcellular localization image for PTCHD2 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PTCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS 19179482
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 15645143
GO:0031965 nuclear membrane ISS 19179482
genes like me logo Genes that share ontologies with PTCHD2: view

Pathways for PTCHD2 Gene

SuperPathways for PTCHD2 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for PTCHD2 Gene

Gene Ontology (GO) - Biological Process for PTCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway NAS 16258256
GO:0032368 regulation of lipid transport NAS 15645143
GO:0042632 cholesterol homeostasis ISS 19179482
genes like me logo Genes that share ontologies with PTCHD2: view

No data available for Pathways by source for PTCHD2 Gene

Transcripts for PTCHD2 Gene

mRNA/cDNA for PTCHD2 Gene

(4) Additional mRNA sequences :
(9) REFSEQ mRNAs :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTCHD2 Gene

Patched domain containing 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCHD2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTCHD2 Gene

No ASD Table

Relevant External Links for PTCHD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTCHD2 Gene

mRNA expression in normal human tissues for PTCHD2 Gene

mRNA differential expression in normal tissues according to GTEx for PTCHD2 Gene

This gene is overexpressed in Testis (5.2), Brain - Putamen (basal ganglia) (5.2), Brain - Nucleus accumbens (basal ganglia) (5.2), Brain - Caudate (basal ganglia) (4.9), and Brain - Cortex (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PTCHD2 Gene

SOURCE GeneReport for Unigene cluster for PTCHD2 Gene Hs.202355

mRNA Expression by UniProt/SwissProt for PTCHD2 Gene

Tissue specificity: Expressed in brain and testis.
genes like me logo Genes that share expressions with PTCHD2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Expression partners for PTCHD2 Gene

Orthologs for PTCHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTCHD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PTCHD2 35
  • 88.57 (n)
  • 91.37 (a)
  • 90 (a)
(Canis familiaris)
Mammalia PTCHD2 35
  • 89.11 (n)
  • 91.09 (a)
  • 90 (a)
(Mus musculus)
Mammalia Ptchd2 35
  • 86.34 (n)
  • 91.69 (a)
Ptchd2 16
Ptchd2 36
  • 90 (a)
(Pan troglodytes)
Mammalia PTCHD2 35
  • 98.26 (n)
  • 98.31 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ptchd2 35
  • 86.5 (n)
  • 91.49 (a)
(Monodelphis domestica)
Mammalia PTCHD2 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia PTCHD2 36
  • 83 (a)
(Gallus gallus)
Aves PTCHD2 35
  • 76.9 (n)
  • 82.36 (a)
DISP3 36
  • 81 (a)
(Anolis carolinensis)
Reptilia PTCHD2 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491297 35
  • 65.62 (n)
  • 73.48 (a)
(Danio rerio)
Actinopterygii ptchd2 35
  • 60.34 (n)
  • 58.03 (a)
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta disp 36
  • 13 (a)
(Caenorhabditis elegans)
Secernentea che-14 36
  • 12 (a)
ptd-2 36
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 13 (a)
Species with no ortholog for PTCHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTCHD2 Gene

Gene Tree for PTCHD2 (if available)
Gene Tree for PTCHD2 (if available)

Paralogs for PTCHD2 Gene

Paralogs for PTCHD2 Gene

genes like me logo Genes that share paralogs with PTCHD2: view

Variants for PTCHD2 Gene

Sequence variations from dbSNP and Humsavar for PTCHD2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2004576 -- 11,488,414(+) CTGCT(C/T)CCCAC intron-variant
rs2007215 -- 11,477,920(-) TAGAC(A/G)CATTG upstream-variant-2KB
rs2072993 - 11,519,447(-) TGGGG(C/G)CCTGG missense, reference
rs2072994 - 11,519,413(-) GGGAG(C/T)GGCAA missense, reference
rs2072995 -- 11,519,287(-) CAGGG(C/T)CCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTCHD2 Gene

Variant ID Type Subtype PubMed ID
nsv832536 CNV Loss 17160897
dgv138n71 CNV Loss 21882294
nsv2632 CNV Insertion 18451855
esv2657750 CNV Deletion 23128226
nsv871932 CNV Gain 21882294
nsv832647 CNV Loss 17160897
nsv465505 CNV Loss 19166990
nsv465727 CNV Loss 19166990
nsv470692 CNV Gain 18288195
nsv521736 CNV Loss 19592680
esv2628262 CNV Insertion 19546169
esv26916 CNV Loss 19812545

Relevant External Links for PTCHD2 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCHD2 Gene

Disorders for PTCHD2 Gene

No disorders were found for PTCHD2 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for PTCHD2 Gene

Publications for PTCHD2 Gene

  1. Identification and characterization of DISP3 gene in silico. (PMID: 15645143) Katoh Y. … Katoh M. (Int. J. Oncol. 2005) 3 4 23
  2. Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors. (PMID: 15738394) Peart M.J. … Johnstone R.W. (Proc. Natl. Acad. Sci. U.S.A. 2005) 2 3
  3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3
  5. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3

Products for PTCHD2 Gene

Sources for PTCHD2 Gene

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