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Aliases for GPATCH4 Gene

Aliases for GPATCH4 Gene

  • G-Patch Domain Containing 4 2 3 5
  • G Patch Domain-Containing Protein 4 3 4
  • GPATC4 3 4

External Ids for GPATCH4 Gene

Previous HGNC Symbols for GPATCH4 Gene

  • GPATC4

Previous GeneCards Identifiers for GPATCH4 Gene

  • GC01M154831
  • GC01M127921

Summaries for GPATCH4 Gene

GeneCards Summary for GPATCH4 Gene

GPATCH4 (G-Patch Domain Containing 4) is a Protein Coding gene. Diseases associated with GPATCH4 include Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is PINX1.

Additional gene information for GPATCH4 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPATCH4 Gene

Genomics for GPATCH4 Gene

GeneHancer (GH) Regulatory Elements for GPATCH4 Gene

Promoters and enhancers for GPATCH4 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
GH01J156599 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 611.5 +0.2 238 3.5 CTCF ELF3 MNT ZNF148 NKRF ZNF121 POLR2A GTF2F1 ZNF384 ZNF687 GPATCH4 IQGAP3 GON4L RRNAD1 ISG20L2 KHDC4 NAXE MSTO1 MSTO2P CCT3
GH01J156456 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +144.2 144224 2.9 HDGF ZFX SP1 CC2D1A CTCF ELF3 MNT CBFA2T2 POLR2A ZNF121 C1orf61 ENSG00000236947 KHDC4 GON4L ENSG00000271267 RRNAD1 ENSG00000237842 CCT3 LMNA ASH1L
GH01J156590 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.9 +9.7 9686 2.4 SP1 ZFX NKRF POLR2A ZNF121 GTF2F1 ZNF687 ZSCAN21 MAFK SP7 NAXE GON4L KHDC4 BGLAP ENSG00000237842 GPATCH4 RRNAD1 LMNA
GH01J156569 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 6.8 +30.0 29951 3.3 ZNF652 SIX5 NKRF ZNF384 MAFK ZBTB7A SP7 ELF1 CREM CREB1 IQGAP3 NAXE MEF2D BCAN CCT3 TSACC GPATCH4 TTC24 GC01P156524
GH01J156461 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 +137.6 137594 7 ZNF652 CC2D1A ZKSCAN8 CBFA2T2 MLLT1 TRIM24 ZNF639 SMARCA4 GLIS2 DPF2 C1orf61 MIR9-1 NAXE GPATCH4 HAPLN2 MEF2D MRPL24 HDGF ENSG00000223356 RHBG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPATCH4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPATCH4 gene promoter:
  • AP-4
  • CREB
  • deltaCREB
  • Egr-4
  • Evi-1
  • Max1
  • Pax-6
  • USF-1
  • USF1
  • YY1

Genomic Locations for GPATCH4 Gene

Genomic Locations for GPATCH4 Gene
chr1:156,594,308-156,601,496
(GRCh38/hg38)
Size:
7,189 bases
Orientation:
Minus strand
chr1:156,564,100-156,571,288
(GRCh37/hg19)
Size:
7,189 bases
Orientation:
Minus strand

Genomic View for GPATCH4 Gene

Genes around GPATCH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH4 Gene

Proteins for GPATCH4 Gene

  • Protein details for GPATCH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T3I0-GPTC4_HUMAN
    Recommended name:
    G patch domain-containing protein 4
    Protein Accession:
    Q5T3I0
    Secondary Accessions:
    • Q5T3I1
    • Q6ZUE7
    • Q8IWG8
    • Q9NXH4

    Protein attributes for GPATCH4 Gene

    Size:
    446 amino acids
    Molecular mass:
    50381 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH40147.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GPATCH4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPATCH4 Gene

Post-translational modifications for GPATCH4 Gene

  • Ubiquitination at isoforms=321
  • Modification sites at PhosphoSitePlus

Other Protein References for GPATCH4 Gene

No data available for DME Specific Peptides for GPATCH4 Gene

Domains & Families for GPATCH4 Gene

Gene Families for GPATCH4 Gene

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

Protein Domains for GPATCH4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPATCH4 Gene

GenScript: Design optimal peptide antigens:
  • G patch domain-containing protein 4 (GPTC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GPATCH4: view

No data available for UniProtKB/Swiss-Prot for GPATCH4 Gene

Function for GPATCH4 Gene

Phenotypes From GWAS Catalog for GPATCH4 Gene

Gene Ontology (GO) - Molecular Function for GPATCH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GPATCH4: view
genes like me logo Genes that share phenotypes with GPATCH4: view

Animal Model Products

CRISPR Products

miRNA for GPATCH4 Gene

Clone Products

  • Applied Biological Materials (abm): Clones for GPATCH4 - Now 50% OFF >
  • * GPATCH4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GPATCH4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH4 Gene

Localization for GPATCH4 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 GPATCH4 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GPATCH4 Gene

Pathways & Interactions for GPATCH4 Gene

PathCards logo

SuperPathways for GPATCH4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPATCH4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GPATCH4 Gene

Drugs & Compounds for GPATCH4 Gene

No Compound Related Data Available

Transcripts for GPATCH4 Gene

mRNA/cDNA for GPATCH4 Gene

Unigene Clusters for GPATCH4 Gene

G patch domain containing 4:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GPATCH4 - Now 50% OFF >
  • * GPATCH4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GPATCH4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: -
SP3:

Relevant External Links for GPATCH4 Gene

GeneLoc Exon Structure for
GPATCH4
ECgene alternative splicing isoforms for
GPATCH4

Expression for GPATCH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPATCH4 Gene

Protein differential expression in normal tissues from HIPED for GPATCH4 Gene

This gene is overexpressed in Lung (55.9) and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPATCH4 Gene



Protein tissue co-expression partners for GPATCH4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPATCH4 Gene:

GPATCH4

SOURCE GeneReport for Unigene cluster for GPATCH4 Gene:

Hs.193832

Evidence on tissue expression from TISSUES for GPATCH4 Gene

  • Intestine(4.3)
  • Kidney(4.3)
  • Nervous system(2.4)
  • Liver(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with GPATCH4: 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 GPATCH4 Gene

Orthologs for GPATCH4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPATCH4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH4 35 34
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPATCH4 35 34
  • 84.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPATCH4 35 34
  • 81.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpatch4 34
  • 80.14 (n)
mouse
(Mus musculus)
Mammalia Gpatch4 17 35 34
  • 75.21 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 58 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves GPATCH4 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPATCH4 35
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75931 34
zebrafish
(Danio rerio)
Actinopterygii gpatch4 35
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15561 35
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for GPATCH4 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GPATCH4 Gene

ENSEMBL:
Gene Tree for GPATCH4 (if available)
TreeFam:
Gene Tree for GPATCH4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPATCH4: view image

Paralogs for GPATCH4 Gene

Paralogs for GPATCH4 Gene

(1) SIMAP similar genes for GPATCH4 Gene using alignment to 5 proteins:

  • GPTC4_HUMAN
  • E9PAV9_HUMAN
  • E9PPY4_HUMAN
  • F2Z3C6_HUMAN
  • F8W895_HUMAN
genes like me logo Genes that share paralogs with GPATCH4: view

Variants for GPATCH4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH4 Gene

GPTC4_HUMAN-Q5T3I0
This gene contains polymorphic substitutions in the last exon causing a frameshift variant C-terminal sequence compared to the official human genome. However, this variant sequence is in agreement with ortholog sequences.

Sequence variations from dbSNP and Humsavar for GPATCH4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs886041062 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,594,021(-) GAAG/A downstream_transcript_variant
rs886041063 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,593,960(-) C/ downstream_transcript_variant
rs770023429 uncertain-significance, not specified 156,593,950(-) A/C downstream_transcript_variant
rs1000300307 -- 156,602,292(-) A/G upstream_transcript_variant
rs1001226519 -- 156,602,909(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GPATCH4 Gene

Variant ID Type Subtype PubMed ID
nsv523181 CNV loss 19592680

Variation tolerance for GPATCH4 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPATCH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH4

Disorders for GPATCH4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPATCH4 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GPATCH4

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 GPATCH4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPATCH4 Gene

Publications for GPATCH4 Gene

  1. 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 45 58
  2. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 58

Products for GPATCH4 Gene

Sources for GPATCH4 Gene

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