The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015] See more...

Aliases for GPATCH8 Gene

Aliases for GPATCH8 Gene

  • G-Patch Domain Containing 8 2 3 5
  • KIAA0553 2 3 4
  • G Patch Domain-Containing Protein 8 3 4
  • GPATC8 3 4

External Ids for GPATCH8 Gene

Previous HGNC Symbols for GPATCH8 Gene

  • KIAA0553
  • GPATC8

Previous GeneCards Identifiers for GPATCH8 Gene

  • GC17M039831
  • GC17M042472
  • GC17M038236

Summaries for GPATCH8 Gene

Entrez Gene Summary for GPATCH8 Gene

  • The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

GeneCards Summary for GPATCH8 Gene

GPATCH8 (G-Patch Domain Containing 8) is a Protein Coding gene. Diseases associated with GPATCH8 include Hyperuricemia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF804B.

Gene Wiki entry for GPATCH8 Gene

Additional gene information for GPATCH8 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPATCH8 Gene

Genomics for GPATCH8 Gene

GeneHancer (GH) Regulatory Elements for GPATCH8 Gene

Promoters and enhancers for GPATCH8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPATCH8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPATCH8 gene promoter:
  • Chx10
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • HNF-1
  • HNF-1A
  • Pax-4a
  • S8

Genomic Locations for GPATCH8 Gene

Genomic Locations for GPATCH8 Gene
chr17:44,395,277-44,503,602
(GRCh38/hg38)
Size:
108,326 bases
Orientation:
Minus strand
chr17:42,472,645-42,580,957
(GRCh37/hg19)
Size:
108,313 bases
Orientation:
Minus strand

Genomic View for GPATCH8 Gene

Genes around GPATCH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH8 Gene

Proteins for GPATCH8 Gene

  • Protein details for GPATCH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKJ3-GPTC8_HUMAN
    Recommended name:
    G patch domain-containing protein 8
    Protein Accession:
    Q9UKJ3
    Secondary Accessions:
    • B9EGP9
    • O60300
    • Q8TB99

    Protein attributes for GPATCH8 Gene

    Size:
    1502 amino acids
    Molecular mass:
    164197 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI36630.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA25479.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GPATCH8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPATCH8 Gene

Post-translational modifications for GPATCH8 Gene

  • Ubiquitination at Lys1322 and Lys1338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPATCH8 Gene

Domains & Families for GPATCH8 Gene

Gene Families for GPATCH8 Gene

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

Protein Domains for GPATCH8 Gene

Suggested Antigen Peptide Sequences for GPATCH8 Gene

GenScript: Design optimal peptide antigens:
  • G patch domain-containing protein 8 (GPTC8_HUMAN)
genes like me logo Genes that share domains with GPATCH8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GPATCH8 Gene

Function for GPATCH8 Gene

Phenotypes From GWAS Catalog for GPATCH8 Gene

Gene Ontology (GO) - Molecular Function for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 16713569
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GPATCH8: view
genes like me logo Genes that share phenotypes with GPATCH8: view

Animal Model Products

CRISPR Products

miRNA for GPATCH8 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH8 Gene

Localization for GPATCH8 Gene

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 GPATCH8 gene
Compartment Confidence
nucleus 4
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with GPATCH8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GPATCH8 Gene

Pathways & Interactions for GPATCH8 Gene

PathCards logo

SuperPathways for GPATCH8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GPATCH8: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH8 Gene

Drugs & Compounds for GPATCH8 Gene

No Compound Related Data Available

Transcripts for GPATCH8 Gene

mRNA/cDNA for GPATCH8 Gene

(6) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2:
SP3: -
SP4:

Relevant External Links for GPATCH8 Gene

GeneLoc Exon Structure for
GPATCH8
ECgene alternative splicing isoforms for
GPATCH8

Expression for GPATCH8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPATCH8 Gene

Protein differential expression in normal tissues from HIPED for GPATCH8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.3), Liver (20.8), and Lung (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPATCH8 Gene



Protein tissue co-expression partners for GPATCH8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPATCH8 Gene:

GPATCH8

SOURCE GeneReport for Unigene cluster for GPATCH8 Gene:

Hs.463129

Evidence on tissue expression from TISSUES for GPATCH8 Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Skin(4.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with GPATCH8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPATCH8 Gene

Orthologs for GPATCH8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPATCH8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH8 33 32
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPATCH8 33 32
  • 91.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPATCH8 33 32
  • 91.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gpatch8 17 33 32
  • 87.81 (n)
rat
(Rattus norvegicus)
Mammalia Gpatch8 32
  • 85.09 (n)
oppossum
(Monodelphis domestica)
Mammalia GPATCH8 33
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPATCH8 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH8 33
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPATCH8 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10990 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.1934 32
zebrafish
(Danio rerio)
Actinopterygii gpatch8 33
  • 47 (a)
ManyToMany
wufj32a09 32
Species where no ortholog for GPATCH8 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GPATCH8 Gene

ENSEMBL:
Gene Tree for GPATCH8 (if available)
TreeFam:
Gene Tree for GPATCH8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPATCH8: view image

Paralogs for GPATCH8 Gene

Paralogs for GPATCH8 Gene

genes like me logo Genes that share paralogs with GPATCH8: view

Variants for GPATCH8 Gene

Sequence variations from dbSNP and Humsavar for GPATCH8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs727502862 uncertain-significance, not provided, - 44,399,142(-) C/G/T coding_sequence_variant, missense_variant
rs1000007733 -- 44,482,108(-) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000046764 -- 44,456,492(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000055704 -- 44,499,226(-) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000069128 -- 44,493,505(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GPATCH8 Gene

Variant ID Type Subtype PubMed ID
dgv1470n106 CNV deletion 24896259
esv3554454 CNV deletion 23714750
nsv1109082 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1151268 CNV duplication 26484159
nsv820313 CNV loss 19587683
nsv828018 CNV loss 20364138

Variation tolerance for GPATCH8 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPATCH8 Gene

Human Gene Mutation Database (HGMD)
GPATCH8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH8 Gene

Disorders for GPATCH8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPATCH8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperuricemia
  • blood urate raized
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GPATCH8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GPATCH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPATCH8 Gene

Publications for GPATCH8 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  2. Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. (PMID: 21594610) Kaneko H … Ohno K (Human genetics 2011) 3 4 56
  3. 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 43 56
  4. Candidate gene polymorphisms for ischemic stroke. (PMID: 19729601) Matarin M … Meschia JF (Stroke 2009) 3 43 56
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56

Products for GPATCH8 Gene

Sources for GPATCH8 Gene