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Aliases for PTCHD4 Gene

Aliases for PTCHD4 Gene

  • Patched Domain Containing 4 2 3 5
  • P53-Regulated Patched Protein 3 4
  • C6orf138 3 4
  • PTCH53 3 4
  • Patched Domain-Containing Protein C6orf138 3
  • Chromosome 6 Open Reading Frame 138 2
  • Patched Domain-Containing Protein 4 3
  • DJ402H5.2 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. Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD1.

UniProtKB/Swiss-Prot for PTCHD4 Gene

  • Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.

Additional gene information for PTCHD4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCHD4 Gene

Genomics for PTCHD4 Gene

GeneHancer (GH) Regulatory Elements for PTCHD4 Gene

Promoters and enhancers for PTCHD4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I048068 Promoter 1.2 EPDnew Ensembl 550.3 +42.3 42331 0.4 MXI1 EZH2 PTCHD4 RNU1-105P
GH06I048109 Enhancer 1 Ensembl ENCODE 555.5 +0.5 525 2.5 ELF3 FOXA2 MLX ARID4B DMAP1 DNMT3B ZNF48 ZSCAN9 SLC30A9 ZNF366 PTCHD4 RNU1-105P
GH06I047167 Enhancer 1.4 Ensembl ENCODE dbSUPER 11 +941.9 941878 4 FEZF1 GLI4 ZNF2 BRCA1 GLIS2 ZNF213 ZNF548 FOS DEK REST SLC25A27 TDRD6 PTCHD4 LOC105375081 TNFRSF21
GH06I048765 Enhancer 0.6 ENCODE 11 -655.1 -655103 2 SIX4 CTCF ZNF654 ZNF384 RAD21 JUND KLF16 SMC3 FOSL2 FOS PTCHD4 RNU1-105P MUT PIR62700 ENSG00000278736
GH06I048032 Enhancer 0.6 Ensembl ENCODE 4.4 +78.7 78739 0.4 JUN ATF2 PTCHD4 RNU1-105P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTCHD4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PTCHD4 Gene

Genomic Locations for PTCHD4 Gene
chr6:47,877,421-48,111,132
(GRCh38/hg38)
Size:
233,712 bases
Orientation:
Minus strand
chr6:47,845,764-48,036,425
(GRCh37/hg19)

Genomic View for PTCHD4 Gene

Genes around PTCHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD4 Gene

Proteins for PTCHD4 Gene

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

    Protein Symbol:
    Q6ZW05-PTHD4_HUMAN
    Recommended name:
    Patched domain-containing protein 4
    Protein Accession:
    Q6ZW05
    Secondary Accessions:
    • A0A0A7EN49
    • B0QZ29
    • B2RPC0
    • B4DRK3
    • B4DTR9
    • Q5T884

    Protein attributes for PTCHD4 Gene

    Size:
    846 amino acids
    Molecular mass:
    96371 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI37360.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI37365.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCHD4 Gene

Post-translational modifications for PTCHD4 Gene

  • Glycosylation at Asn762
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PTCHD4 Gene

Domains & Families for PTCHD4 Gene

Gene Families for PTCHD4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PTCHD4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTCHD4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZW05

UniProtKB/Swiss-Prot:

PTHD4_HUMAN :
  • Belongs to the patched family.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCHD4: view

Function for PTCHD4 Gene

Molecular function for PTCHD4 Gene

UniProtKB/Swiss-Prot Function:
Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.
UniProtKB/Swiss-Prot Induction:
Induced by TP53.

Phenotypes From GWAS Catalog for PTCHD4 Gene

Gene Ontology (GO) - Molecular Function for PTCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with PTCHD4: view
genes like me logo Genes that share phenotypes with PTCHD4: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTCHD4 gene
Compartment Confidence
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTCHD4 Gene

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

Pathways & Interactions 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:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PTCHD4: view

No data available for Pathways by source and SIGNOR curated interactions for PTCHD4 Gene

Drugs & Compounds for PTCHD4 Gene

No Compound Related Data Available

Transcripts for PTCHD4 Gene

mRNA/cDNA for PTCHD4 Gene

(9) 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:

Clone Products

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

No ASD Table

Relevant External Links for PTCHD4 Gene

GeneLoc Exon Structure for
PTCHD4
ECgene alternative splicing isoforms for
PTCHD4

Expression for PTCHD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTCHD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTCHD4 Gene



Protein tissue co-expression partners for PTCHD4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTCHD4 Gene:

PTCHD4

SOURCE GeneReport for Unigene cluster for PTCHD4 Gene:

Hs.659409

Evidence on tissue expression from TISSUES for PTCHD4 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with PTCHD4: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PTCHD4 33 34
  • 99.08 (n)
dog
(Canis familiaris)
Mammalia PTCHD4 33 34
  • 95.47 (n)
oppossum
(Monodelphis domestica)
Mammalia PTCHD4 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptchd4 33
  • 92.87 (n)
mouse
(Mus musculus)
Mammalia Ptchd4 33 16 34
  • 92.57 (n)
cow
(Bos Taurus)
Mammalia C23H6orf138 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTCHD4 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H6ORF138 33 34
  • 81.95 (n)
lizard
(Anolis carolinensis)
Reptilia PTCHD4 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptchd4 33
  • 74.57 (n)
zebrafish
(Danio rerio)
Actinopterygii ptchd4 33 34
  • 71.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ptr 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptr-10 34
  • 21 (a)
ManyToMany
ptr-2 34
  • 21 (a)
ManyToMany
daf-6 34
  • 19 (a)
ManyToMany
ptr-15 34
  • 19 (a)
ManyToMany
ptr-9 34
  • 19 (a)
ManyToMany
ptr-19 34
  • 18 (a)
ManyToMany
ptr-17 34
  • 17 (a)
ManyToMany
ptr-18 34
  • 17 (a)
ManyToMany
ptr-1 34
  • 16 (a)
ManyToMany
ptr-13 34
  • 16 (a)
ManyToMany
ptr-14 34
  • 16 (a)
ManyToMany
ptr-20 34
  • 16 (a)
ManyToMany
ptr-22 34
  • 16 (a)
ManyToMany
ptr-4 34
  • 16 (a)
ManyToMany
ptr-6 34
  • 16 (a)
ManyToMany
ptr-11 34
  • 15 (a)
ManyToMany
ptr-12 34
  • 14 (a)
ManyToMany
ptr-16 34
  • 14 (a)
ManyToMany
ptr-21 34
  • 14 (a)
ManyToMany
ptr-23 34
  • 14 (a)
ManyToMany
ptr-3 34
  • 14 (a)
ManyToMany
ptr-5 34
  • 14 (a)
ManyToMany
ptr-8 34
  • 14 (a)
ManyToMany
Species where no ortholog for PTCHD4 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PTCHD4 (if available)
TreeFam:
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.org 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 Variation AA Info Type
rs1000013743 -- 47,927,222(-) AAAAA/AA intron_variant
rs1000021414 -- 48,038,682(-) G/A/T intron_variant
rs1000022864 -- 48,056,989(-) G/T intron_variant
rs1000039318 -- 47,901,098(-) G/A/T 3_prime_UTR_variant, intron_variant
rs1000044960 -- 48,018,332(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTCHD4 Gene

Variant ID Type Subtype PubMed ID
esv21548 CNV loss 19812545
esv22426 CNV loss 19812545
esv2671865 CNV deletion 23128226
esv2672027 CNV deletion 23128226
esv3608907 CNV loss 21293372
esv3608909 CNV loss 21293372
nsv1017113 CNV gain 25217958
nsv474998 CNV novel sequence insertion 20440878
nsv603035 CNV loss 21841781
nsv830656 CNV gain 17160897

Variation tolerance for PTCHD4 Gene

Residual Variation Intolerance Score: 1.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTCHD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTCHD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCHD4 Gene

Disorders for PTCHD4 Gene

Additional Disease Information for PTCHD4

No disorders were found for PTCHD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTCHD4 Gene

Publications for PTCHD4 Gene

  1. A PTCH1 homolog transcriptionally activated by p53 suppresses Hedgehog signaling. (PMID: 25296753) Chung JH … Bunz F (The Journal of biological chemistry 2014) 2 3 4 58
  2. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W … Steffen LM (Circulation. Cardiovascular genetics 2014) 3 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 58
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58

Products for PTCHD4 Gene

Sources for PTCHD4 Gene

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