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Aliases for GPATCH3 Gene

Aliases for GPATCH3 Gene

  • G-Patch Domain Containing 3 2 3 5
  • GPATC3 3 4
  • G Patch Domain-Containing Protein 3 3

External Ids for GPATCH3 Gene

Previous HGNC Symbols for GPATCH3 Gene

  • GPATC3

Previous GeneCards Identifiers for GPATCH3 Gene

  • GC01M027090
  • GC01M027216
  • GC01M025470

Summaries for GPATCH3 Gene

GeneCards Summary for GPATCH3 Gene

GPATCH3 (G-Patch Domain Containing 3) is a Protein Coding gene. Diseases associated with GPATCH3 include Corneal Edema. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for GPATCH3 Gene

  • Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768).

Additional gene information for GPATCH3 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 GPATCH3 Gene

Genomics for GPATCH3 Gene

GeneHancer (GH) Regulatory Elements for GPATCH3 Gene

Promoters and enhancers for GPATCH3 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
GH01I026898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.0 1014 2.4 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 GPATCH3 NUDC ARID1A HMGN2 ACTG1P20 PIGV ZNF593 FAM76A NPM1P39 MAP3K6
GH01I026691 Promoter/Enhancer 3.3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.9 +204.0 204007 12.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ARID1A LOC101928728 HMGN2 ACTG1P20 PIGV LOC101928324 GPN2 GPATCH3 TMEM222 RPL17P9
GH01I026856 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.5 +39.3 39322 9.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 SFN ARID1A HMGN2 LOC101928324 GPATCH3 LOC101928728 ACTG1P20 ENSG00000231344 NPM1P39 PIGV
GH01I026618 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.5 +280.7 280669 4 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ARID1A HMGN2 ACTG1P20 GPN2 ZNF593 GPATCH3 AHDC1 RPL17P9 LOC101928324 NPM1P39
GH01I026782 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22 +113.9 113919 9.2 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A PIGV ARID1A HMGN2 ACTG1P20 GPN2 LOC101928324 ENSG00000231344 GPATCH3 RPL17P9 FAM76A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPATCH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPATCH3 gene promoter:

Genomic Locations for GPATCH3 Gene

Genomic Locations for GPATCH3 Gene
chr1:26,890,488-26,901,065
(GRCh38/hg38)
Size:
10,578 bases
Orientation:
Minus strand
chr1:27,216,979-27,226,962
(GRCh37/hg19)

Genomic View for GPATCH3 Gene

Genes around GPATCH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH3 Gene

Proteins for GPATCH3 Gene

  • Protein details for GPATCH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I76-GPTC3_HUMAN
    Recommended name:
    G patch domain-containing protein 3
    Protein Accession:
    Q96I76
    Secondary Accessions:
    • Q5JYH2
    • Q8NDJ2
    • Q9H9Z3

    Protein attributes for GPATCH3 Gene

    Size:
    525 amino acids
    Molecular mass:
    59338 Da
    Quaternary structure:
    • Interacts with mitochondrial MAVS; the interaction is markedly increased upon viral infection.
    SequenceCaution:
    • Sequence=CAD38742.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GPATCH3 Gene

Post-translational modifications for GPATCH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPATCH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPATCH3 Gene

Domains & Families for GPATCH3 Gene

Gene Families for GPATCH3 Gene

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

Protein Domains for GPATCH3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GPATCH3: view

No data available for UniProtKB/Swiss-Prot for GPATCH3 Gene

Function for GPATCH3 Gene

Molecular function for GPATCH3 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768).

Phenotypes From GWAS Catalog for GPATCH3 Gene

Gene Ontology (GO) - Molecular Function for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 28414768
genes like me logo Genes that share ontologies with GPATCH3: view
genes like me logo Genes that share phenotypes with GPATCH3: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH3 Gene

Localization for GPATCH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPATCH3 Gene

Nucleus. Cytoplasm.

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 GPATCH3 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 28397860
GO:0005737 cytoplasm IEA,IDA 28397860
genes like me logo Genes that share ontologies with GPATCH3: view

Pathways & Interactions for GPATCH3 Gene

SuperPathways for GPATCH3 Gene

No Data Available

Interacting Proteins for GPATCH3 Gene

Gene Ontology (GO) - Biological Process for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0032480 negative regulation of type I interferon production IMP 28414768
GO:0039536 negative regulation of RIG-I signaling pathway IMP 28414768
GO:0045893 positive regulation of transcription, DNA-templated IDA 28397860
genes like me logo Genes that share ontologies with GPATCH3: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH3 Gene

Drugs & Compounds for GPATCH3 Gene

No Compound Related Data Available

Transcripts for GPATCH3 Gene

mRNA/cDNA for GPATCH3 Gene

Unigene Clusters for GPATCH3 Gene

G patch domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - -
SP2:
SP3:
SP4:
SP5: -

Relevant External Links for GPATCH3 Gene

GeneLoc Exon Structure for
GPATCH3
ECgene alternative splicing isoforms for
GPATCH3

Expression for GPATCH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPATCH3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPATCH3 Gene



Protein tissue co-expression partners for GPATCH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPATCH3 Gene:

GPATCH3

SOURCE GeneReport for Unigene cluster for GPATCH3 Gene:

Hs.10903

mRNA Expression by UniProt/SwissProt for GPATCH3 Gene:

Q96I76-GPTC3_HUMAN
Tissue specificity: Expressed in ocular tissues including retinal pigment epithelium, cornea, ciliary muscle and non-pigmented ciliary epithelium. Also expressed in optic nerve, cartilage, skin and lymph node.

Evidence on tissue expression from TISSUES for GPATCH3 Gene

  • Nervous system(4.8)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GPATCH3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPATCH3 Gene

Orthologs for GPATCH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPATCH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH3 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia GPATCH3 33 34
  • 87.99 (n)
cow
(Bos Taurus)
Mammalia GPATCH3 33 34
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Gpatch3 33
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Gpatch3 33 16 34
  • 84.07 (n)
oppossum
(Monodelphis domestica)
Mammalia GPATCH3 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH3 33 34
  • 66.09 (n)
lizard
(Anolis carolinensis)
Reptilia GPATCH3 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpatch3 33
  • 61.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16274 33
zebrafish
(Danio rerio)
Actinopterygii gpatch3 33 34
  • 62.39 (n)
Dr.8730 33
worm
(Caenorhabditis elegans)
Secernentea K07B1.7 33 34
  • 48.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7955 33
Species where no ortholog for GPATCH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 GPATCH3 Gene

ENSEMBL:
Gene Tree for GPATCH3 (if available)
TreeFam:
Gene Tree for GPATCH3 (if available)

Paralogs for GPATCH3 Gene

No data available for Paralogs for GPATCH3 Gene

Variants for GPATCH3 Gene

Sequence variations from dbSNP and Humsavar for GPATCH3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs376709877 uncertain-significance, not provided 26,891,164(-) C/T coding_sequence_variant, missense_variant
rs1000217807 -- 26,897,915(-) T/C intron_variant
rs1000321399 -- 26,897,359(-) C/T coding_sequence_variant, missense_variant
rs1000324343 -- 26,898,924(-) C/G intron_variant
rs1000378599 -- 26,898,641(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GPATCH3 Gene

Variant ID Type Subtype PubMed ID
nsv1000012 CNV gain 25217958
nsv834524 CNV gain+loss 17160897

Variation tolerance for GPATCH3 Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPATCH3 Gene

Human Gene Mutation Database (HGMD)
GPATCH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH3 Gene

Disorders for GPATCH3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPATCH3 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
corneal edema
  • corneal oedema
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GPTC3_HUMAN
  • Note=GPATCH3 variants may be involved in the pathogenesis of congenital glaucoma, an ocular disease characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269 PubMed:28397860}.

Additional Disease Information for GPATCH3

genes like me logo Genes that share disorders with GPATCH3: view

No data available for Genatlas for GPATCH3 Gene

Publications for GPATCH3 Gene

  1. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. (PMID: 28397860) Ferre-Fernández JJ … Escribano J (Scientific reports 2017) 3 4 58
  2. GPATCH3 negatively regulates RLR-mediated innate antiviral responses by disrupting the assembly of VISA signalosome. (PMID: 28414768) Nie Y … Wang YY (PLoS pathogens 2017) 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GPATCH3 Gene

Sources for GPATCH3 Gene

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