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Aliases for DISP3 Gene

Aliases for DISP3 Gene

  • Dispatched RND Transporter Family Member 3 2 3 5
  • Patched Domain-Containing Protein 2 3 4
  • Patched Domain Containing 2 2 3
  • PTCHD2 3 4
  • Dispatched Homolog 3 (Drosophila) 2
  • Protein Dispatched Homolog 3 3
  • Dispatched Homolog 3 3
  • Dispatched 3 3
  • KIAA1337 4

External Ids for DISP3 Gene

Previous HGNC Symbols for DISP3 Gene

  • PTCHD2

Summaries for DISP3 Gene

GeneCards Summary for DISP3 Gene

DISP3 (Dispatched RND Transporter Family Member 3) is a Protein Coding gene. An important paralog of this gene is DISP2.

UniProtKB/Swiss-Prot for DISP3 Gene

  • Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to cholesterol homeostasis in neuronal cells (By similarity).

Additional gene information for DISP3 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 DISP3 Gene

Genomics for DISP3 Gene

Regulatory Elements for DISP3 Gene

Enhancers for DISP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H011700 1.3 FANTOM5 ENCODE dbSUPER 16.6 +222.2 222151 1 ZSCAN5A TAL1 ZSCAN4 INSM2 ZNF195 ZFHX2 MTA3 POLR2A ZBTB48 ZSCAN5C DISP3 DRAXIN MAD2L2 FBXO44 GC01P011722
GH01H011498 0.8 FANTOM5 ENCODE 12.8 +20.5 20532 1 REST EZH2 DISP3 LINC01647
GH01H011332 0.3 FANTOM5 2.7 -146.2 -146214 0 MTOR MTOR-AS1 DISP3 DRAXIN MAD2L2 LOC105376737 LOC105376739
GH01H011478 1 ENCODE 0.7 +0.1 53 0 ATF1 SIN3A ZNF766 GLIS2 ZNF143 ZNF207 ATF7 RUNX3 SP3 REST TARDBP ENSG00000226849 EXOSC10 CLCN6 ENSG00000271895 MTHFR DISP3 LINC01647
GH01H011465 0.6 FANTOM5 0.4 -13.7 -13738 0 ZNF121 ZNF184 ZNF366 ZNF512 ZFP64 DISP3 MTCYBP45
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DISP3 on UCSC Golden Path with GeneCards custom track

Promoters for DISP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001408 -66 601 ATF1 SIN3A ZNF766 GLIS2 ZNF143 ZNF207 ATF7 RUNX3 SP3 REST

Genomic Location for DISP3 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 DISP3 Gene

Genes around DISP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DISP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DISP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DISP3 Gene

Proteins for DISP3 Gene

  • Protein details for DISP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2K9-DISP3_HUMAN
    Recommended name:
    Protein dispatched homolog 3
    Protein Accession:
    Q9P2K9
    Secondary Accessions:
    • Q5VTU9
    • Q9UJD6

    Protein attributes for DISP3 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 DISP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DISP3 Gene

Post-translational modifications for DISP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DISP3 Gene

Domains & Families for DISP3 Gene

Gene Families for DISP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DISP3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DISP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2K9

UniProtKB/Swiss-Prot:

DISP3_HUMAN :
  • The SSD (sterol-sensing) domain is necessary for the increase in cellular cholesterol uptake.
  • Belongs to the patched family.
Domain:
  • The SSD (sterol-sensing) domain is necessary for the increase in cellular cholesterol uptake.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with DISP3: view

Function for DISP3 Gene

Molecular function for DISP3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to cholesterol homeostasis in neuronal cells (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by thyroid hormone T3 (PubMed:19179482).

Gene Ontology (GO) - Molecular Function for DISP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DISP3: view

Phenotypes for DISP3 Gene

genes like me logo Genes that share phenotypes with DISP3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DISP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DISP3 Gene

Localization for DISP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DISP3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Predominantly localized to cholesterol-enriched domains within the membrane (PubMed:19179482). Localizes to cytoplasmic punctate vesicular structures (By similarity). {ECO:0000250 UniProtKB:B9U3F2, ECO:0000269 PubMed:19179482}.

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 DISP3 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DISP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 25281927
GO:0005783 endoplasmic reticulum ISS 19179482
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DISP3: view

Pathways & Interactions for DISP3 Gene

SuperPathways for DISP3 Gene

No Data Available

Interacting Proteins for DISP3 Gene

Selected Interacting proteins: Q9P2K9-DISP3_HUMAN for DISP3 Gene via IID

Gene Ontology (GO) - Biological Process for DISP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007224 smoothened signaling pathway NAS 16258256
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DISP3: view

No data available for Pathways by source and SIGNOR curated interactions for DISP3 Gene

Drugs & Compounds for DISP3 Gene

No Compound Related Data Available

Transcripts for DISP3 Gene

mRNA/cDNA for DISP3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DISP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DISP3 Gene

No ASD Table

Relevant External Links for DISP3 Gene

GeneLoc Exon Structure for
DISP3
ECgene alternative splicing isoforms for
DISP3

Expression for DISP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DISP3 Gene:

DISP3

mRNA Expression by UniProt/SwissProt for DISP3 Gene:

Q9P2K9-DISP3_HUMAN
Tissue specificity: Expressed in brain and testis (PubMed:15645143).

Evidence on tissue expression from TISSUES for DISP3 Gene

  • Nervous system(4.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DISP3 Gene

Orthologs for DISP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DISP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTCHD2 33 34
  • 98.26 (n)
dog
(Canis familiaris)
Mammalia PTCHD2 33 34
  • 89.11 (n)
cow
(Bos Taurus)
Mammalia PTCHD2 33 34
  • 88.57 (n)
rat
(Rattus norvegicus)
Mammalia Ptchd2 33
  • 86.5 (n)
mouse
(Mus musculus)
Mammalia Ptchd2 33 34
  • 86.34 (n)
Disp3 16
oppossum
(Monodelphis domestica)
Mammalia PTCHD2 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTCHD2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DISP3 34
  • 81 (a)
OneToOne
PTCHD2 33
  • 76.9 (n)
lizard
(Anolis carolinensis)
Reptilia PTCHD2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491297 33
  • 65.62 (n)
zebrafish
(Danio rerio)
Actinopterygii ptchd2 33
  • 60.34 (n)
PTCHD2 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta disp 34
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea che-14 34
  • 12 (a)
ManyToMany
ptd-2 34
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 13 (a)
OneToMany
Species where no ortholog for DISP3 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 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 DISP3 Gene

ENSEMBL:
Gene Tree for DISP3 (if available)
TreeFam:
Gene Tree for DISP3 (if available)

Paralogs for DISP3 Gene

Paralogs for DISP3 Gene

genes like me logo Genes that share paralogs with DISP3: view

Variants for DISP3 Gene

Sequence variations from dbSNP and Humsavar for DISP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000262866 -- 11,508,752(+) GCTTT(C/G)CATCC intron-variant
rs1000313115 -- 11,500,921(+) CTGGG(C/T)GAACT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000336271 -- 11,477,613(+) CATAT(C/G)AGATT upstream-variant-2KB
rs1000491241 -- 11,482,808(+) TTGTC(A/G)TTTGA intron-variant
rs1000500704 -- 11,484,407(+) GCTAT(C/T)TATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DISP3 Gene

Variant ID Type Subtype PubMed ID
dgv107n54 CNV loss 21841781
dgv18n100 CNV gain 25217958
esv2628262 CNV insertion 19546169
esv2657750 CNV deletion 23128226
esv26916 CNV loss 19812545
esv3380219 CNV duplication 20981092
nsv2632 CNV insertion 18451855
nsv465505 CNV loss 19166990
nsv465727 CNV loss 19166990
nsv470692 CNV gain 18288195
nsv521736 CNV loss 19592680
nsv545413 CNV loss 21841781
nsv832536 CNV loss 17160897
nsv832647 CNV loss 17160897
nsv955244 CNV deletion 24416366

Variation tolerance for DISP3 Gene

Residual Variation Intolerance Score: 40.2% 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 DISP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DISP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DISP3 Gene

Disorders for DISP3 Gene

Relevant External Links for DISP3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DISP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DISP3

No disorders were found for DISP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DISP3 Gene

Publications for DISP3 Gene

  1. DISP3 promotes proliferation and delays differentiation of neural progenitor cells. (PMID: 25281927) Zíková M … Bartůněk P (FEBS letters 2014) 2 3 4 60
  2. Identification and characterization of DISP3 gene in silico. (PMID: 15645143) Katoh Y … Katoh M (International journal of oncology 2005) 3 4 22 60
  3. DISP3, a sterol-sensing domain-containing protein that links thyroid hormone action and cholesterol metabolism. (PMID: 19179482) Zikova M … Bartunek P (Molecular endocrinology (Baltimore, Md.) 2009) 3 4 60
  4. Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors. (PMID: 15738394) Peart MJ … Johnstone RW (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 60
  5. 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. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60

Products for DISP3 Gene

Sources for DISP3 Gene

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