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Aliases for PTCHD4 Gene

Aliases for PTCHD4 Gene

  • Patched Domain Containing 4 2 3
  • C6orf138 3 4
  • Patched Domain-Containing Protein C6orf138 3
  • Chromosome 6 Open Reading Frame 138 2
  • Patched Domain-Containing Protein 4 3
  • DJ402H5.2 3
  • PTCH53 3

External Ids for PTCHD4 Gene

Previous HGNC Symbols for PTCHD4 Gene

  • C6orf138

Summaries for PTCHD4 Gene

GeneCards Summary for PTCHD4 Gene

PTCHD4 (Patched Domain Containing 4) is a Protein Coding gene. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD1.

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 PTCHD4 Gene

Genomics for PTCHD4 Gene

Epigenetics Products

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

Genomic Location for PTCHD4 Gene

47,878,028 bp from pter
48,069,140 bp from pter
191,113 bases
Minus strand

Genomic View for PTCHD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTCHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD4 Gene

No data available for Regulatory Elements for PTCHD4 Gene

Proteins for PTCHD4 Gene

  • Protein details for PTCHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patched domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • B0QZ29
    • B4DRK3
    • Q5T884

    Protein attributes for PTCHD4 Gene

    846 amino acids
    Molecular mass:
    96371 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC85703.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85703.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAI20456.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX04325.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PTCHD4 Gene


neXtProt entry for PTCHD4 Gene

Proteomics data for PTCHD4 Gene at MOPED

Post-translational modifications for PTCHD4 Gene

  • Glycosylation at Asn762
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCHD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTCHD4 Gene

Domains for PTCHD4 Gene

Protein Domains for PTCHD4 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 PTCHD4: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for PTCHD4 Gene

Function for PTCHD4 Gene

Gene Ontology (GO) - Molecular Function for PTCHD4 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 PTCHD4: view

Phenotypes for PTCHD4 Gene

GenomeRNAi human phenotypes for PTCHD4:
genes like me logo Genes that share phenotypes with PTCHD4: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCHD4

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PTCHD4 Gene

Localization for PTCHD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCHD4 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for PTCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTCHD4: view

No data available for Subcellular locations from COMPARTMENTS for PTCHD4 Gene

Pathways for PTCHD4 Gene

SuperPathways for PTCHD4 Gene

No Data Available

Interacting Proteins for PTCHD4 Gene

Gene Ontology (GO) - Biological Process for PTCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PTCHD4: view

No data available for Pathways by source for PTCHD4 Gene

Transcripts for PTCHD4 Gene

mRNA/cDNA for PTCHD4 Gene

(8) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTCHD4 Gene

Patched domain containing 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCHD4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTCHD4 Gene

No ASD Table

Relevant External Links for PTCHD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTCHD4 Gene

mRNA expression in normal human tissues for PTCHD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PTCHD4 Gene

SOURCE GeneReport for Unigene cluster for PTCHD4 Gene Hs.659409

genes like me logo Genes that share expressions with PTCHD4: view

Expression partners for PTCHD4 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PTCHD4 Gene

Orthologs for PTCHD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTCHD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia PTCHD4 35
  • 95.47 (n)
  • 97.99 (a)
  • 98 (a)
(Mus musculus)
Mammalia Ptchd4 35
  • 92.57 (n)
  • 96.2 (a)
Ptchd4 16
Ptchd4 36
  • 91 (a)
(Pan troglodytes)
Mammalia PTCHD4 35
  • 99.08 (n)
  • 98.79 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Ptchd4 35
  • 92.87 (n)
  • 96.57 (a)
(Bos Taurus)
Mammalia C23H6orf138 36
  • 92 (a)
(Monodelphis domestica)
Mammalia PTCHD4 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia PTCHD4 36
  • 89 (a)
(Gallus gallus)
Aves C3H6ORF138 35
  • 81.95 (n)
  • 88.06 (a)
C3H6ORF138 36
  • 83 (a)
(Anolis carolinensis)
Reptilia PTCHD4 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptchd4 35
  • 74.57 (n)
  • 79.3 (a)
(Danio rerio)
Actinopterygii ptchd4 35
  • 71.27 (n)
  • 73.99 (a)
ptchd4 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ptr 36
  • 17 (a)
(Caenorhabditis elegans)
Secernentea daf-6 36
  • 19 (a)
ptr-1 36
  • 16 (a)
ptr-10 36
  • 21 (a)
ptr-11 36
  • 15 (a)
ptr-12 36
  • 14 (a)
ptr-13 36
  • 16 (a)
ptr-14 36
  • 16 (a)
ptr-15 36
  • 19 (a)
ptr-16 36
  • 14 (a)
ptr-17 36
  • 17 (a)
ptr-18 36
  • 17 (a)
ptr-19 36
  • 18 (a)
ptr-2 36
  • 21 (a)
ptr-20 36
  • 16 (a)
ptr-21 36
  • 14 (a)
ptr-22 36
  • 16 (a)
ptr-23 36
  • 14 (a)
ptr-3 36
  • 14 (a)
ptr-4 36
  • 16 (a)
ptr-5 36
  • 14 (a)
ptr-6 36
  • 16 (a)
ptr-8 36
  • 14 (a)
ptr-9 36
  • 19 (a)
Species with no ortholog for PTCHD4:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PTCHD4 Gene

Gene Tree for PTCHD4 (if available)
Gene Tree for PTCHD4 (if available)

Paralogs for PTCHD4 Gene

Paralogs for PTCHD4 Gene

(2) SIMAP similar genes for PTCHD4 Gene using alignment to 3 proteins: Pseudogenes for PTCHD4 Gene

genes like me logo Genes that share paralogs with PTCHD4: view

Variants for PTCHD4 Gene

Sequence variations from dbSNP and Humsavar for PTCHD4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs112500 -- 48,039,756(-) AAAAA(A/C)CTCAA intron-variant
rs167976 -- 48,052,095(+) GAATA(A/G)TATTC intron-variant
rs332552 -- 48,047,687(-) TCATT(C/T)GTGAG intron-variant
rs332553 -- 48,047,797(+) GCCCA(C/T)ATCAG intron-variant
rs332554 -- 48,047,957(-) AATTC(C/T)TATGT intron-variant

Relevant External Links for PTCHD4 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PTCHD4 Gene

Disorders for PTCHD4 Gene

No disorders were found for PTCHD4 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for PTCHD4 Gene

Publications for PTCHD4 Gene

  1. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3

Products for PTCHD4 Gene

Sources for PTCHD4 Gene

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