THAP4 Gene (Protein Coding)

THAP Domain Containing 4

GC02M241584
GIFtS:
34
See more...

Aliases for THAP4 Gene

Aliases for THAP4 Gene

  • THAP Domain Containing 4 2 3 5
  • THAP Domain-Containing Protein 4 3 4
  • Peroxynitrite Isomerase THAP4 3 4
  • Nitrobindin 2 3
  • Nb(III) 2 3
  • CGI-36 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 5.99.-.- 4
  • PP238 3
  • THAP4 5

External Ids for THAP4 Gene

Previous GeneCards Identifiers for THAP4 Gene

  • GC02M242543
  • GC02M242844
  • GC02M242243
  • GC02M234277

Summaries for THAP4 Gene

GeneCards Summary for THAP4 Gene

THAP4 (THAP Domain Containing 4) is a Protein Coding gene. Diseases associated with THAP4 include Venous Hemangioma and Chromosome 2Q37 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for THAP4 Gene

  • In vitro catalyzes the heme-based conversion of peroxynitrite into nitrate/NO3-. May be involved in the detoxification of peroxynitrite which is responsible for the nitration of L-free tyrosine (PubMed:30524950). Also selectively binds nitric oxide/NO in vitro (PubMed:30524950).

Gene Wiki entry for THAP4 Gene

Additional gene information for THAP4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THAP4 Gene

Genomics for THAP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for THAP4 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 THAP4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THAP4

Top Transcription factor binding sites by QIAGEN in the THAP4 gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E47
  • GATA-1
  • HOXA5
  • MEF-2A
  • Pax-6
  • Tal-1
  • YY1

Genomic Locations for THAP4 Gene

Latest Assembly
chr2:241,584,405-241,637,543
(GRCh38/hg38)
Size:
53,139 bases
Orientation:
Minus strand

Previous Assembly
chr2:242,523,820-242,576,573
(GRCh37/hg19 by Entrez Gene)
Size:
52,754 bases
Orientation:
Minus strand

chr2:242,523,820-242,576,864
(GRCh37/hg19 by Ensembl)
Size:
53,045 bases
Orientation:
Minus strand

Genomic View for THAP4 Gene

Genes around THAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for THAP4 Gene

Proteins for THAP4 Gene

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  • Protein details for THAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WY91-THAP4_HUMAN
    Recommended name:
    Peroxynitrite isomerase THAP4
    Protein Accession:
    Q8WY91
    Secondary Accessions:
    • Q53NU7
    • Q6GRN0
    • Q6IPJ3
    • Q9NW26
    • Q9Y325

    Protein attributes for THAP4 Gene

    Size:
    577 amino acids
    Molecular mass:
    62890 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH00247.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH09439.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91560.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for THAP4 Gene

    Alternative splice isoforms for THAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THAP4 Gene

Protein Expression for THAP4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for THAP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THAP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for THAP4 Gene

Domains & Families for THAP4 Gene

Gene Families for THAP4 Gene

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

Protein Domains for THAP4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for THAP4 Gene

GenScript: Design optimal peptide antigens:
  • THAP domain-containing protein 4 (THAP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WY91

UniProtKB/Swiss-Prot:

THAP4_HUMAN :
  • The C-terminal nitrobindin region coordinates a heme and bears the isomerase activity in vitro.
Domain:
  • The C-terminal nitrobindin region coordinates a heme and bears the isomerase activity in vitro.
genes like me logo Genes that share domains with THAP4: view

Function for THAP4 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for THAP4 Gene

UniProtKB/Swiss-Prot Function:
In vitro catalyzes the heme-based conversion of peroxynitrite into nitrate/NO3-. May be involved in the detoxification of peroxynitrite which is responsible for the nitration of L-free tyrosine (PubMed:30524950). Also selectively binds nitric oxide/NO in vitro (PubMed:30524950).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=peroxynitrite = nitrate; Xref=Rhea:RHEA:63116, ChEBI:CHEBI:17632, ChEBI:CHEBI:25941; Evidence={ECO:0000269|PubMed:30524950};.

Enzyme Numbers (IUBMB) for THAP4 Gene

Phenotypes From GWAS Catalog for THAP4 Gene

Gene Ontology (GO) - Molecular Function for THAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 32296183
GO:0016853 isomerase activity IEA --
GO:0020037 heme binding IMP 21387410
genes like me logo Genes that share ontologies with THAP4: view
genes like me logo Genes that share phenotypes with THAP4: view

Animal Models for research

miRNA for THAP4 Gene

miRTarBase miRNAs that target THAP4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THAP4 Gene

Localization for THAP4 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 THAP4 gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 0
mitochondrion 0
endoplasmic reticulum 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for THAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with THAP4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for THAP4 Gene

Pathways & Interactions for THAP4 Gene

PathCards logo

SuperPathways for THAP4 Gene

No Data Available

UniProtKB/Swiss-Prot Q8WY91-THAP4_HUMAN

  • Pathway: Nitrogen metabolism.

Gene Ontology (GO) - Biological Process for THAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006570 tyrosine metabolic process IDA 30524950
GO:0042126 nitrate metabolic process IDA 30524950
genes like me logo Genes that share ontologies with THAP4: view

No data available for Pathways by source and SIGNOR curated interactions for THAP4 Gene

Drugs & Compounds for THAP4 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for THAP4 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for THAP4 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP4

Alternative Splicing Database (ASD) splice patterns (SP) for THAP4 Gene

No ASD Table

Relevant External Links for THAP4 Gene

GeneLoc Exon Structure for
THAP4

Expression for THAP4 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THAP4 Gene

mRNA expression in normal human tissues for THAP4 Gene
mRNA expression by GTEx for THAP4 GenemRNA expression by BioGPS for THAP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THAP4 Gene

This gene is overexpressed in Tonsil (17.8), Skin (11.7), Heart (11.4), Salivary gland (7.2), and Oral epithelium (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for THAP4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THAP4

SOURCE GeneReport for Unigene cluster for THAP4 Gene:

Hs.435759

Evidence on tissue expression from TISSUES for THAP4 Gene

  • Nervous system(4.6)
  • Eye(4.2)
  • Lung(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with THAP4: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THAP4 Gene

Orthologs for THAP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for THAP4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia THAP4 30 31
  • 99.13 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia THAP4 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Thap4 30 17 31
  • 84.39 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Thap4 30
  • 83.95 (n)
Oppossum
(Monodelphis domestica)
 Mammalia THAP4 31
  • 83 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia THAP4 30 31
  • 82.37 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia THAP4 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves THAP4 30 31
  • 80.12 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia THAP4 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia thap4 30
  • 60.32 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.33974 30
Zebrafish
(Danio rerio)
 Actinopterygii thap4 30 31
  • 64.63 (n)
 OneToOne
wufb76g01 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6292 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003313 30
  • 55.84 (n)
Worm
(Caenorhabditis elegans)
 Secernentea C52G5.2 31
  • 29 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G79260 30
  • 49.17 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0679600 30
  • 52.81 (n)
Species where no ortholog for THAP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for THAP4 Gene

ENSEMBL:
Gene Tree for THAP4 (if available)
TreeFam:
Gene Tree for THAP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THAP4: view image

Paralogs for THAP4 Gene

No data available for Paralogs for THAP4 Gene

Variants for THAP4 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THAP4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs7424328 - p.Ser121Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THAP4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for THAP4 Gene

Variant ID Type Subtype PubMed ID
dgv165e55 CNV loss 17911159
dgv2379e59 CNV duplication 20981092
esv1008655 CNV deletion 20482838
esv1033771 CNV insertion 17803354
esv21920 CNV gain 19812545
esv2662519 CNV deletion 23128226
esv2676442 CNV deletion 23128226
esv2722011 CNV deletion 23290073
esv2722012 CNV deletion 23290073
esv2722013 CNV deletion 23290073
esv3561312 CNV deletion 23714750
nsv1116839 CNV deletion 24896259
nsv1118902 CNV deletion 24896259
nsv1133496 CNV deletion 24896259
nsv508901 CNV insertion 20534489
nsv584970 CNV loss 21841781
nsv584974 CNV gain 21841781
nsv834588 CNV loss 17160897
nsv956705 CNV deletion 24416366

Variation tolerance for THAP4 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THAP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THAP4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THAP4 Gene

Disorders for THAP4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for THAP4 Gene - From: COP

Disorder Aliases PubMed IDs
venous hemangioma
chromosome 2q37 deletion syndrome
  • albright hereditary osteodystrophy-like syndrome
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search THAP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THAP4

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with THAP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THAP4 Gene

Publications for THAP4 Gene

  1. Human nitrobindin: the first example of an all-β-barrel ferric heme-protein that catalyzes peroxynitrite detoxification. (PMID: 30524950) De Simone G … Ascenzi P (FEBS open bio 2018) 2 3 4
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  3. Structure of the C-terminal heme-binding domain of THAP domain containing protein 4 from Homo sapiens. (PMID: 21387410) Bianchetti CM … Phillips GN (Proteins 2011) 3 4
  4. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 41
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

ExternalLinks

View latest publications for THAP4 gene in Mastermind

Products for THAP4 Gene

Sources for THAP4 Gene