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Aliases for PTCHD3 Gene

Aliases for PTCHD3 Gene

  • Patched Domain Containing 3 2 3 5
  • Patched-Related Protein 3 4
  • PTR 3 4

External Ids for PTCHD3 Gene

Previous GeneCards Identifiers for PTCHD3 Gene

  • GC10M027728

Summaries for PTCHD3 Gene

GeneCards Summary for PTCHD3 Gene

PTCHD3 (Patched Domain Containing 3) is a Protein Coding gene. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is NPC1L1.

UniProtKB/Swiss-Prot for PTCHD3 Gene

  • May play a role in sperm development or sperm function.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCHD3 Gene

Genomics for PTCHD3 Gene

Regulatory Elements for PTCHD3 Gene

Enhancers for PTCHD3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTCHD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTCHD3 Gene

Chromosome:
10
Start:
27,398,187 bp from pter
End:
27,414,368 bp from pter
Size:
16,182 bases
Orientation:
Minus strand

Genomic View for PTCHD3 Gene

Genes around PTCHD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCHD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCHD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD3 Gene

Proteins for PTCHD3 Gene

  • Protein details for PTCHD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KNS1-PTHD3_HUMAN
    Recommended name:
    Patched domain-containing protein 3
    Protein Accession:
    Q3KNS1
    Secondary Accessions:
    • I3L499
    • Q6ZU28

    Protein attributes for PTCHD3 Gene

    Size:
    767 amino acids
    Molecular mass:
    86872 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86399.1; Type=Erroneous termination; Positions=768; Note=Translated as stop.; Evidence={ECO:0000305};

neXtProt entry for PTCHD3 Gene

Proteomics data for PTCHD3 Gene at MOPED

Post-translational modifications for PTCHD3 Gene

  • Glycosylation at Asn 275, Asn 279, and Asn 678
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCHD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTCHD3 Gene

Domains & Families for PTCHD3 Gene

Protein Domains for PTCHD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTCHD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3KNS1

UniProtKB/Swiss-Prot:

PTHD3_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 PTCHD3: view

No data available for Gene Families for PTCHD3 Gene

Function for PTCHD3 Gene

Molecular function for PTCHD3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in sperm development or sperm function.

Phenotypes for PTCHD3 Gene

GenomeRNAi human phenotypes for PTCHD3:
genes like me logo Genes that share phenotypes with PTCHD3: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTCHD3 Gene

Localization for PTCHD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCHD3 Gene

Membrane; Multi-pass membrane protein. Note=Localizes to the midpiece of the sperm tail. {ECO:0000269 PubMed:17904097}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTCHD3 Gene COMPARTMENTS Subcellular localization image for PTCHD3 gene
Compartment Confidence
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PTCHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0097225 sperm midpiece IEA --
genes like me logo Genes that share ontologies with PTCHD3: view

Pathways & Interactions for PTCHD3 Gene

SuperPathways for PTCHD3 Gene

No Data Available

Interacting Proteins for PTCHD3 Gene

Gene Ontology (GO) - Biological Process for PTCHD3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PTCHD3 Gene

Drugs & Compounds for PTCHD3 Gene

No Compound Related Data Available

Transcripts for PTCHD3 Gene

mRNA/cDNA for PTCHD3 Gene

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

Unigene Clusters for PTCHD3 Gene

Patched domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTCHD3 Gene

No ASD Table

Relevant External Links for PTCHD3 Gene

GeneLoc Exon Structure for
PTCHD3
ECgene alternative splicing isoforms for
PTCHD3

Expression for PTCHD3 Gene

mRNA expression in normal human tissues for PTCHD3 Gene

mRNA differential expression in normal tissues according to GTEx for PTCHD3 Gene

This gene is overexpressed in Testis (x14.3), Adipose - Visceral (Omentum) (x9.5), Pancreas (x7.9), and Breast - Mammary Tissue (x5.8).

SOURCE GeneReport for Unigene cluster for PTCHD3 Gene Hs.631832

mRNA Expression by UniProt/SwissProt for PTCHD3 Gene

Q3KNS1-PTHD3_HUMAN
Tissue specificity: Expressed in germ cells of the testis (at protein level).
genes like me logo Genes that share expression patterns with PTCHD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PTCHD3 Gene

Orthologs for PTCHD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTCHD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC516442 35
  • 76.05 (n)
  • 65.6 (a)
-- 36
  • 56 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PTCHD3 35
  • 74.04 (n)
  • 62.81 (a)
-- 36
  • 58 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ptchd3 35
  • 76.08 (n)
  • 70.99 (a)
Ptchd3 16
Ptchd3 36
  • 53 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTCHD3 35
  • 98.87 (n)
  • 98.04 (a)
PTCHD3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptchd3 35
  • 77 (n)
  • 71.76 (a)
oppossum
(Monodelphis domestica)
Mammalia PTCHD3 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTCHD3 35
  • 58.24 (n)
  • 46 (a)
-- 36
  • 32 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 28 (a)
OneToMany
-- 36
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ptchd3 35
  • 52.7 (n)
  • 40.47 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.13837 35
PTCHD3 (1 of 3) 36
  • 33 (a)
OneToMany
PTCHD3 (2 of 3) 36
  • 31 (a)
OneToMany
PTCHD3 (3 of 3) 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010394 35
  • 45.19 (n)
  • 30.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ptr 35
  • 44.19 (n)
  • 29.09 (a)
Ptr 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptr-19 35
  • 41.1 (n)
  • 28.72 (a)
daf-6 36
  • 17 (a)
ManyToMany
ptr-1 36
  • 17 (a)
ManyToMany
ptr-10 36
  • 18 (a)
ManyToMany
ptr-11 36
  • 12 (a)
ManyToMany
ptr-12 36
  • 14 (a)
ManyToMany
ptr-13 36
  • 12 (a)
ManyToMany
ptr-14 36
  • 14 (a)
ManyToMany
ptr-15 36
  • 19 (a)
ManyToMany
ptr-16 36
  • 13 (a)
ManyToMany
ptr-17 36
  • 16 (a)
ManyToMany
ptr-18 36
  • 15 (a)
ManyToMany
ptr-19 36
  • 17 (a)
ManyToMany
ptr-2 36
  • 19 (a)
ManyToMany
ptr-20 36
  • 16 (a)
ManyToMany
ptr-21 36
  • 12 (a)
ManyToMany
ptr-22 36
  • 14 (a)
ManyToMany
ptr-23 36
  • 12 (a)
ManyToMany
ptr-3 36
  • 13 (a)
ManyToMany
ptr-4 36
  • 14 (a)
ManyToMany
ptr-5 36
  • 12 (a)
ManyToMany
ptr-6 36
  • 16 (a)
ManyToMany
ptr-8 36
  • 13 (a)
ManyToMany
ptr-9 36
  • 15 (a)
ManyToMany
Species with no ortholog for PTCHD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 PTCHD3 Gene

ENSEMBL:
Gene Tree for PTCHD3 (if available)
TreeFam:
Gene Tree for PTCHD3 (if available)

Paralogs for PTCHD3 Gene

Paralogs for PTCHD3 Gene

Pseudogenes.org Pseudogenes for PTCHD3 Gene

genes like me logo Genes that share paralogs with PTCHD3: view

Variants for PTCHD3 Gene

Sequence variations from dbSNP and Humsavar for PTCHD3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036918 -
VAR_036919 -
VAR_036920 -
VAR_036921 -
VAR_036922 -

Structural Variations from Database of Genomic Variants (DGV) for PTCHD3 Gene

Variant ID Type Subtype PubMed ID
nsv8614 CNV Loss 18304495
dgv628n71 CNV Loss 21882294
esv2750889 CNV Loss 17911159
esv2676179 CNV Deletion 23128226
dgv74n27 CNV Loss 19166990
nsv470928 CNV Loss 18288195
nsv517741 CNV Loss 19592680
dgv75n27 CNV Loss 19166990
nsv894984 CNV Loss 21882294
esv2750890 CNV Loss 17911159
nsv466854 CNV Loss 19166990
esv1477447 CNV Insertion 17803354

Variation tolerance for PTCHD3 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.99; 97.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTCHD3 Gene

Human Gene Mutation Database (HGMD)
PTCHD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCHD3 Gene

Disorders for PTCHD3 Gene

Relevant External Links for PTCHD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTCHD3

No disorders were found for PTCHD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTCHD3 Gene

Publications for PTCHD3 Gene

  1. Male germ cell-specific expression of a novel patched-domain containing gene Ptchd3. (PMID: 17904097) Fan J. … Zhu G.-Z. (Biochem. Biophys. Res. Commun. 2007) 3 4 67
  2. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. (PMID: 22581228) Manning A.K. … Langenberg C. (Nat. Genet. 2012) 3
  3. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. (PMID: 21439084) Ghahramani Seno M.M. … Scherer S.W. (BMC Med. Genet. 2011) 3
  4. 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

Products for PTCHD3 Gene

Sources for PTCHD3 Gene

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