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Aliases for ZNHIT3 Gene

Aliases for ZNHIT3 Gene

  • Zinc Finger HIT-Type Containing 3 2 3 5
  • Thyroid Hormone Receptor Interactor 3 2 3 4
  • TR-Interacting Protein 3 3 4
  • Zinc Finger, HIT Type 3 2 3
  • HNF-4a Coactivator 3 4
  • TRIP-3 3 4
  • TRIP3 3 4
  • Zinc Finger HIT Domain-Containing Protein 3 3
  • Thyroid Receptor Interacting Protein 3 3
  • Thyroid Receptor-Interacting Protein 3 4
  • Zinc Finger, HIT Domain Containing 3 3
  • PEHO 3

External Ids for ZNHIT3 Gene

Previous HGNC Symbols for ZNHIT3 Gene

  • TRIP3

Previous GeneCards Identifiers for ZNHIT3 Gene

  • GC17P031917
  • GC17P034842
  • GC17P030779

Summaries for ZNHIT3 Gene

GeneCards Summary for ZNHIT3 Gene

ZNHIT3 (Zinc Finger HIT-Type Containing 3) is a Protein Coding gene. Diseases associated with ZNHIT3 include Peho Syndrome and Chromosome 17Q12 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include thyroid hormone receptor binding.

Additional gene information for ZNHIT3 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 ZNHIT3 Gene

Genomics for ZNHIT3 Gene

GeneHancer (GH) Regulatory Elements for ZNHIT3 Gene

Promoters and enhancers for ZNHIT3 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
GH17I036485 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 572.5 +0.1 146 1.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNHIT3 LOC105371749 PIR32973 LOC105371748 RNA5SP439 GC17M036499
GH17I036589 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18 +109.9 109919 13.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B E2F8 DHRS11 GC17P036618 MRM1 ZNHIT3 MYO19 CCL4L2 GGNBP2
GH17I036543 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.5 +59.2 59153 4.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 SLC30A9 POLR2B GGNBP2 GC17P036546 ZNHIT3 MYO19 DHRS11 GC17M036499
GH17I036482 Enhancer 1.4 FANTOM5 Ensembl ENCODE 17.5 -3.6 -3624 1.2 ATF1 SIN3A ZNF2 ZNF48 SLC30A9 ZNF121 CBX5 E2F8 ARID2 ZNF207 LOC105371748 LINC02001 MYO19 ZNHIT3 AP2B1 LOC105371749 GC17M036461 GC17M036499
GH17I036119 Enhancer 0.4 FANTOM5 5.1 -367.5 -367505 0.1 ZNF610 NRF1 LOC100419980 CCL18 CCL5 ZNHIT3 ENSG00000276241 LOC101927369 GC17P036146
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZNHIT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNHIT3 gene promoter:

Genomic Locations for ZNHIT3 Gene

Genomic Locations for ZNHIT3 Gene
chr17:36,486,627-36,499,310
(GRCh38/hg38)
Size:
12,684 bases
Orientation:
Plus strand
chr17:34,842,473-34,855,154
(GRCh37/hg19)

Genomic View for ZNHIT3 Gene

Genes around ZNHIT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNHIT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNHIT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNHIT3 Gene

Proteins for ZNHIT3 Gene

  • Protein details for ZNHIT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15649-ZNHI3_HUMAN
    Recommended name:
    Zinc finger HIT domain-containing protein 3
    Protein Accession:
    Q15649
    Secondary Accessions:
    • A8K493
    • K7EQP1
    • Q8WVJ3

    Protein attributes for ZNHIT3 Gene

    Size:
    155 amino acids
    Molecular mass:
    17607 Da
    Quaternary structure:
    • Thyroid receptor interacting proteins (TRIPs) specifically interact with the ligand binding domain of the thyroid receptor (TR). Requires the presence of thyroid hormone for its interaction. Interacts with NUFIP1 (PubMed:28335020).

    Three dimensional structures from OCA and Proteopedia for ZNHIT3 Gene

    Alternative splice isoforms for ZNHIT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNHIT3 Gene

Post-translational modifications for ZNHIT3 Gene

  • Ubiquitination at isoforms=25, posLast=9393, and isoforms=123
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNHIT3 Gene

Domains & Families for ZNHIT3 Gene

Gene Families for ZNHIT3 Gene

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

Protein Domains for ZNHIT3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNHIT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ZNHIT3: view

No data available for UniProtKB/Swiss-Prot for ZNHIT3 Gene

Function for ZNHIT3 Gene

Phenotypes From GWAS Catalog for ZNHIT3 Gene

Gene Ontology (GO) - Molecular Function for ZNHIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25170085
GO:0046872 metal ion binding IEA --
GO:0046966 thyroid hormone receptor binding TAS 7776974
genes like me logo Genes that share ontologies with ZNHIT3: view
genes like me logo Genes that share phenotypes with ZNHIT3: view

Human Phenotype Ontology for ZNHIT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNHIT3 Gene

Localization for ZNHIT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNHIT3 Gene

Cytoplasm. Nucleus.

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 ZNHIT3 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNHIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 7776974
GO:0005634 nucleus IEA,IDA 28335020
GO:0005737 cytoplasm IDA,IEA 28335020
genes like me logo Genes that share ontologies with ZNHIT3: view

Pathways & Interactions for ZNHIT3 Gene

SuperPathways for ZNHIT3 Gene

No Data Available

Interacting Proteins for ZNHIT3 Gene

Gene Ontology (GO) - Biological Process for ZNHIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 7776974
genes like me logo Genes that share ontologies with ZNHIT3: view

No data available for Pathways by source and SIGNOR curated interactions for ZNHIT3 Gene

Drugs & Compounds for ZNHIT3 Gene

No Compound Related Data Available

Transcripts for ZNHIT3 Gene

Unigene Clusters for ZNHIT3 Gene

Zinc finger, HIT-type containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNHIT3 Gene

No ASD Table

Relevant External Links for ZNHIT3 Gene

GeneLoc Exon Structure for
ZNHIT3
ECgene alternative splicing isoforms for
ZNHIT3

Expression for ZNHIT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNHIT3 Gene

Protein differential expression in normal tissues from HIPED for ZNHIT3 Gene

This gene is overexpressed in Lung (50.3) and Bone marrow mesenchymal stem cell (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNHIT3 Gene



Protein tissue co-expression partners for ZNHIT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNHIT3 Gene:

ZNHIT3

SOURCE GeneReport for Unigene cluster for ZNHIT3 Gene:

Hs.2210

Evidence on tissue expression from TISSUES for ZNHIT3 Gene

  • Nervous system(2.6)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with ZNHIT3: 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 ZNHIT3 Gene

Orthologs for ZNHIT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNHIT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNHIT3 33
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia ZNHIT3 33
  • 87.1 (n)
cow
(Bos Taurus)
Mammalia ZNHIT3 33
  • 85.28 (n)
rat
(Rattus norvegicus)
Mammalia Znhit3 33
  • 82.43 (n)
mouse
(Mus musculus)
Mammalia Znhit3 33 16
  • 81.9 (n)
chicken
(Gallus gallus)
Aves ZNHIT3 33
  • 61.2 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia znhit3 33
  • 56.72 (n)
zebrafish
(Danio rerio)
Actinopterygii znhit3 33
  • 56.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011858 33
  • 51.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8204 33
  • 47.95 (n)
Species where no ortholog for ZNHIT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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 ZNHIT3 Gene

ENSEMBL:
Gene Tree for ZNHIT3 (if available)
TreeFam:
Gene Tree for ZNHIT3 (if available)

Paralogs for ZNHIT3 Gene

No data available for Paralogs for ZNHIT3 Gene

Variants for ZNHIT3 Gene

Sequence variations from dbSNP and Humsavar for ZNHIT3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs148890852 pathogenic, PEHO syndrome, PEHO syndrome (PEHO) [MIM:260565] 36,486,940(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000168740 -- 36,499,644(+) T/C downstream_transcript_variant
rs1000208710 -- 36,495,475(+) C/G 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000656577 -- 36,487,875(+) G/A intron_variant
rs1000722858 -- 36,494,298(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ZNHIT3 Gene

Variant ID Type Subtype PubMed ID
dgv3154n100 CNV gain 25217958
dgv3155n100 CNV gain 25217958
dgv573e214 CNV gain 21293372
esv2763162 CNV gain 21179565
esv3640471 CNV gain 21293372
esv3640472 CNV gain 21293372
nsv457734 CNV gain 19166990
nsv469796 CNV gain+loss 16826518
nsv469853 CNV gain+loss 16826518
nsv471697 CNV gain 15918152
nsv516100 CNV gain+loss 19592680
nsv574909 CNV gain 21841781

Variation tolerance for ZNHIT3 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNHIT3 Gene

Human Gene Mutation Database (HGMD)
ZNHIT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNHIT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNHIT3 Gene

Disorders for ZNHIT3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNHIT3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peho syndrome
  • peho
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZNHI3_HUMAN
  • PEHO syndrome (PEHO) [MIM:260565]: An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe mental retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death. {ECO:0000269 PubMed:28335020}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZNHIT3

genes like me logo Genes that share disorders with ZNHIT3: view

No data available for Genatlas for ZNHIT3 Gene

Publications for ZNHIT3 Gene

  1. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. (PMID: 7776974) Lee JW … Moore DD (Molecular endocrinology (Baltimore, Md.) 1995) 2 3 4 58
  2. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. (PMID: 28335020) Anttonen AK … Lehesjoki AE (Brain : a journal of neurology 2017) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. 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
  5. Thyroid hormone receptor interacting protein 3 (trip3) is a novel coactivator of hepatocyte nuclear factor-4alpha. (PMID: 11916906) Iwahashi H … Matsuzawa Y (Diabetes 2002) 3 4 58

Products for ZNHIT3 Gene

Sources for ZNHIT3 Gene

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