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Aliases for PTCHD2 Gene

Aliases for PTCHD2 Gene

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

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

Chromosome:
1
Start:
11,479,166 bp from pter
End:
11,537,584 bp from pter
Size:
58,419 bases
Orientation:
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:
    Q9P2K9-PTHD2_HUMAN
    Recommended name:
    Patched domain-containing protein 2
    Protein Accession:
    Q9P2K9
    Secondary Accessions:
    • Q5VTU9
    • Q9UJD6

    Protein attributes for PTCHD2 Gene

    Size:
    1392 amino acids
    Molecular mass:
    153048 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCHD2 Gene

Proteomics data for PTCHD2 Gene at MOPED

Post-translational modifications for PTCHD2 Gene

  • Glycosylation at Asn 163 and Asn 1021
  • 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 & Families for PTCHD2 Gene

Protein Domains for PTCHD2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PTCHD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2K9

UniProtKB/Swiss-Prot:

PTHD2_HUMAN :
  • Contains 1 SSD (sterol-sensing) domain.
  • Belongs to the patched family.
Domain:
  • Contains 1 SSD (sterol-sensing) domain.
Family:
  • 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
genes like me logo Genes that share phenotypes 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) , Animal Models , 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

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

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 & Interactions 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 and SIGNOR curated interactions for PTCHD2 Gene

Drugs & Compounds for PTCHD2 Gene

No Compound Related Data Available

Transcripts for PTCHD2 Gene

mRNA/cDNA for PTCHD2 Gene

(9) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(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
PTCHD2
ECgene alternative splicing isoforms for
PTCHD2

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 (x5.2), Brain - Putamen (basal ganglia) (x5.2), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Caudate (basal ganglia) (x4.9), and Brain - Cortex (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9P2K9-PTHD2_HUMAN
Tissue specificity: Expressed in brain and testis.
genes like me logo Genes that share expression patterns 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 Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia PTCHD2 36
  • 99 (a)
OneToOne
PTCHD2 35
  • 98.26 (n)
  • 98.31 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PTCHD2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptchd2 36
  • 90 (a)
OneToOne
Ptchd2 16
Ptchd2 35
  • 86.34 (n)
  • 91.69 (a)
oppossum
(Monodelphis domestica)
Mammalia PTCHD2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTCHD2 36
  • 90 (a)
OneToOne
PTCHD2 35
  • 89.11 (n)
  • 91.09 (a)
cow
(Bos Taurus)
Mammalia PTCHD2 36
  • 90 (a)
OneToOne
PTCHD2 35
  • 88.57 (n)
  • 91.37 (a)
rat
(Rattus norvegicus)
Mammalia Ptchd2 35
  • 86.5 (n)
  • 91.49 (a)
chicken
(Gallus gallus)
Aves DISP3 36
  • 81 (a)
OneToOne
PTCHD2 35
  • 76.9 (n)
  • 82.36 (a)
lizard
(Anolis carolinensis)
Reptilia PTCHD2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491297 35
  • 65.62 (n)
  • 73.48 (a)
zebrafish
(Danio rerio)
Actinopterygii PTCHD2 36
  • 56 (a)
OneToOne
ptchd2 35
  • 60.34 (n)
  • 58.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta disp 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptd-2 36
  • 12 (a)
ManyToMany
che-14 36
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 13 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PTCHD2 (if available)
TreeFam:
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
rs2007215 -- 11,477,920(-) TAGAC(A/G)CATTG upstream-variant-2KB
rs2072993 - 11,519,447(-) TGGGG(C/G)CCTGG missense, reference, nc-transcript-variant
rs2072994 - 11,519,413(-) GGGAG(C/T)GGCAA missense, reference, nc-transcript-variant
rs2072995 -- 11,519,287(-) CAGGG(C/T)CCTGA intron-variant
rs2072996 -- 11,518,916(-) GACGC(A/G)GCTCA 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

Variation tolerance for PTCHD2 Gene

Residual Variation Intolerance Score: 40.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.96; 89.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTCHD2 Gene

HapMap Linkage Disequilibrium report
PTCHD2

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

Disorders for PTCHD2 Gene

Relevant External Links for PTCHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTCHD2
genes like me logo Genes that share disorders with PTCHD2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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) 23 67
  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 67
  3. DISP3 promotes proliferation and delays differentiation of neural progenitor cells. (PMID: 25281927) ZA-kovA! M. … BartA^nA9k P. (FEBS Lett. 2014) 67
  4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 67
  5. DISP3, a sterol-sensing domain-containing protein that links thyroid hormone action and cholesterol metabolism. (PMID: 19179482) Zikova M. … Bartunek P. (Mol. Endocrinol. 2009) 67

Products for PTCHD2 Gene

Sources for PTCHD2 Gene

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