PTCHD2 Gene
protein-coding GIFtS: 45
GCID: GC01P011442
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|
patched domain containing 2
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Aliases
for PTCHD2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Patched Domain Containing 21 2 | | DISP31 2 3 5 | | KIAA13371 3 5 | | Protein Dispatched Homolog 32 3 | | Dispatched 32 | | Patched Domain-Containing Protein 22 |
Export aliases for PTCHD2 gene to outside databasesPrevious GC identifer: GC01P010692 |
Summaries
for PTCHD2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for PTCHD2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PTCHD2 gene promoter:
AhR Egr-3 SRF Pax-5 SRF (504 AA) NRSF form 1 NRSF form 2 Arnt Egr-2 Chx10
Other transcription factors
Search SABiosciences Chromatin IP Primers for PTCHD2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTCHD2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.22 Ensembl cytogenetic band: 1p36.22 HGNC cytogenetic band: 1p36.22PTCHD2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P011442: view genomic region
(about GC identifiers)
Start:
|
11,539,223 bp from pter |
End:
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11,597,641 bp from pter |
Size:
|
58,419 bases |
Orientation:
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plus strand |
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Proteins
for PTCHD2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9 (See
protein sequence)Recommended Name: Patched domain-containing protein 2 Size: 1392 amino acids; 153048 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Developmental stage: Expressed in fetal brain
Sequence caution: Sequence=BAA92575.1; Type=Erroneous initiation; Sequence=CAB55303.1; Type=Erroneous initiation;Sequence=CAH70606.1; Type=Erroneous gene model prediction; Sequence=CAI22474.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5VTU9 Q9UJD6Alternative splicing: 2 isoforms: Q9P2K9-1 Q9P2K9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PTCHD2: NX_Q9P2K9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P2K9
PTCHD2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065831.1
ENSEMBL proteins: ENSP00000294484 ENSP00000303400 ENSP00000374226
Human Recombinant Protein Products for PTCHD2:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PTCHD2 for ontologies About GeneDecksing
PTCHD2 Antibody Products:
Assay Products for PTCHD2: |
Protein
Domains /
Families
for PTCHD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PTCHD2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9P2K9ProtoNet protein and cluster: Q9P2K9 1 Blocks protein family: IPB003392 Patched family
UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9Similarity: Belongs to the patched familySimilarity: Contains 1 SSD (sterol-sensing) domain |
Function
for PTCHD2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0008158 | hedgehog receptor activity |
IEA | -- |
PTCHD2 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PTCHD2 (NM_020780) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTCHD2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCHD2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD2 |
|
Pathways & Interactions
for PTCHD2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PTCHD2
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/6 Interacting proteins for PTCHD2 (Q9P2K92, 3 ENSP000002944844) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
PTCHD2 for ontologies About GeneDecksing
|
Drugs & Compounds
for PTCHD2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PTCHD2
Search CenterWatch for drugs/clinical trials and news about PTCHD2 / PTHD2
|
Transcripts
for PTCHD2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PTCHD2 gene: NM_020780.1 Unigene Cluster for PTCHD2: Patched domain containing 2 Hs.202355 [show with all ESTs]Unigene Representative Sequence: AB5931174 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000423056(uc009vmz.1) ENST00000294484(uc001ash.4) ENST00000304391
ENST00000389575(uc001asi.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PTCHD2 (NM_020780) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTCHD2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCHD2 |
Additional cDNA sequence: AB037758.1 AB593117.1 AL117235.1 AL117236.1 3 DOTS entries: DT.453469 DT.86852209 DT.95147760 9 AceView cDNA sequences: AL117236 AL117235 AB037758 BI916161 BU170953 BG910338 BI196393 H16623 BI916241
GeneLoc Exon Structure
|
Expression
for PTCHD2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PTCHD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGGCCGCCT
About this image
See PTCHD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PTCHD2
SOURCE GeneReport for Unigene cluster: Hs.202355
UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9Tissue specificity: Expressed in brain and testis
SABiosciences Expression via Pathway-Focused PCR Arrays including PTCHD2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTCHD2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PTCHD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTCHD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTCHD2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD2 |
Orthologs
for PTCHD2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for PTCHD2 gene from 3/12 species (see all 12) About this table
ENSEMBL Gene Tree for PTCHD2 (if available)
TreeFam Gene Tree for PTCHD2 (if available) |
Paralogs
for PTCHD2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PTCHD2 gene
- DISP12 DISP22
PTCHD2 for paralogs About GeneDecksing
|
Genomic Variants
for PTCHD2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PTCHD2 (11539223 - 11597641 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PTCHD2
2 Indels: 72729 97291 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTCHD2 |
|
Disorders
/ Diseases
for PTCHD2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PTCHD2 for disorders About GeneDecksing
OMIM gene information: 611251
OMIM disorders: --
3  diseases for PTCHD2: About MalaCardsgastric cancer cholesterol thyroiditis
Export disorders for PTCHD2 gene to outside databases
|
Publications
for PTCHD2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PTCHD2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with PTCHD2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of DISP3 gene in silico. (PubMed id 15645143)1, 2, 9 Katoh Y. and Katoh M. (2005)
- Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors. (PubMed id 15738394)1, 3 Peart M.J....Johnstone R.W. (2005)
- 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. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
- Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
- DISP3, a sterol-sensing domain-containing protein tha t links thyroid hormone action and cholesterol metabolism. (PubMed id 19179482)1 Zikova M....Bartunek P. (2009)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- Hedgehog signaling pathway and gastric cancer. (PubMed id 16258256)1 Katoh Y. and Katoh M. (2005)
- The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
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External Searches for PTCHD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PTCHD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PTCHD2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing PTCHD2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PTCHD2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PTCHD2 gene:
Search GeneIP for patents involving PTCHD2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PTCHD2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PTCHD2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTCHD2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTCHD2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PTCHD2 | | OriGene 3'-UTR Clone for PTCHD2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTCHD2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for PTCHD2 | | OriGene Custom Protein Services for PTCHD2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PTCHD2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTCHD2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTCHD2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTCHD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTCHD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTCHD2 |
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 | | | PTCHD2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCHD2 |
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