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Aliases for ZFAT Gene

Aliases for ZFAT Gene

  • Zinc Finger And AT-Hook Domain Containing 2 3 5
  • Zinc Finger Protein 406 2 3 4
  • ZNF406 3 4
  • ZFAT1 3 4
  • Zinc Finger Gene In Autoimmune Thyroid Disease 3
  • Zinc-Finger Gene In AITD Susceptibility Region 3
  • Zinc Finger Gene In AITD Susceptibility Region 4
  • Zinc Finger And AT Hook Domain Containing 2
  • Zinc Finger Protein ZFAT 3
  • KIAA1485 4
  • AITD3 3

External Ids for ZFAT Gene

Previous HGNC Symbols for ZFAT Gene

  • ZNF406
  • ZFAT1

Previous GeneCards Identifiers for ZFAT Gene

  • GC08M135561
  • GC08M130805
  • GC08M135490

Summaries for ZFAT Gene

Entrez Gene Summary for ZFAT Gene

  • This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

GeneCards Summary for ZFAT Gene

ZFAT (Zinc Finger And AT-Hook Domain Containing) is a Protein Coding gene. Diseases associated with ZFAT include Autoimmune Thyroid Disease 3 and Croup. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ZNF236.

UniProtKB/Swiss-Prot for ZFAT Gene

  • May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity).

Additional gene information for ZFAT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZFAT Gene

Genomics for ZFAT Gene

GeneHancer (GH) Regulatory Elements for ZFAT Gene

Promoters and enhancers for ZFAT 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
GH08I134711 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 564 -0.1 -139 3.6 PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZFAT GC08M134707 MIR30B ENSG00000272456
GH08I134696 Promoter 0.6 EPDnew 550.4 +16.5 16477 0.1 USF1 ZFAT ENSG00000271048
GH08I134830 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 37.2 -119.1 -119062 4.1 HDGF FOXA2 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 GC08M134740 LOC102723694 ENSG00000254028 ZFAT ENSG00000259820 MIR30D MIR30B
GH08I134682 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.8 +28.4 28445 3.6 ELF3 PKNOX1 FOXA2 RB1 SIN3A IRF4 THRB RAD21 RFX5 YY1 ZFAT MIR30B ENSG00000272456 ENSG00000271048
GH08I134765 Enhancer 0.8 ENCODE 11.4 -52.7 -52732 1.2 ELF3 FOXA2 ARID4B THRB RAD21 RARA YY1 CBX5 THAP11 MIXL1 ENSG00000278898 MIR30B ZFAT GC08P134784 GC08M134740
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZFAT on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ZFAT Gene

Genomic Locations for ZFAT Gene
chr8:134,477,788-134,713,049
(GRCh38/hg38)
Size:
235,262 bases
Orientation:
Minus strand
chr8:135,490,031-135,725,292
(GRCh37/hg19)

Genomic View for ZFAT Gene

Genes around ZFAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ZFAT Gene

Proteins for ZFAT Gene

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

    Protein Symbol:
    Q9P243-ZFAT_HUMAN
    Recommended name:
    Zinc finger protein ZFAT
    Protein Accession:
    Q9P243
    Secondary Accessions:
    • B7ZL15
    • E9PER3
    • Q3MIM5
    • Q6PJ01
    • Q75PJ6
    • Q75PJ7
    • Q75PJ9
    • Q86X64

    Protein attributes for ZFAT Gene

    Size:
    1243 amino acids
    Molecular mass:
    139034 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZFAT Gene

    Alternative splice isoforms for ZFAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFAT Gene

Post-translational modifications for ZFAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZFAT Gene

Domains & Families for ZFAT Gene

Gene Families for ZFAT Gene

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

Protein Domains for ZFAT Gene

Suggested Antigen Peptide Sequences for ZFAT Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ZFAT Gene

Molecular function for ZFAT Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity).

Phenotypes From GWAS Catalog for ZFAT Gene

Gene Ontology (GO) - Molecular Function for ZFAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFAT: view
genes like me logo Genes that share phenotypes with ZFAT: view

Animal Models for ZFAT Gene

MGI Knock Outs for ZFAT:

Animal Model Products

miRNA for ZFAT Gene

miRTarBase miRNAs that target ZFAT

Clone Products

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

Localization for ZFAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFAT Gene

Nucleus. Cytoplasm, cytosol.

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 ZFAT gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ZFAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ZFAT: view

Pathways & Interactions for ZFAT Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZFAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0030097 hemopoiesis IEA --
genes like me logo Genes that share ontologies with ZFAT: view

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

Drugs & Compounds for ZFAT Gene

No Compound Related Data Available

Transcripts for ZFAT Gene

Unigene Clusters for ZFAT Gene

Zinc finger and AT hook domain containing:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - - - -
SP6: -
SP7: - - - -
SP8:

Relevant External Links for ZFAT Gene

GeneLoc Exon Structure for
ZFAT
ECgene alternative splicing isoforms for
ZFAT

Expression for ZFAT Gene

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

Protein differential expression in normal tissues from HIPED for ZFAT Gene

This gene is overexpressed in Placenta (43.2) and Pancreatic juice (21.5).

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



Protein tissue co-expression partners for ZFAT Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFAT Gene:

ZFAT

SOURCE GeneReport for Unigene cluster for ZFAT Gene:

Hs.446172

mRNA Expression by UniProt/SwissProt for ZFAT Gene:

Q9P243-ZFAT_HUMAN
Tissue specificity: Isoform 1 is strongly expressed in placenta, spleen, kidney, testis and peripheral blood leukocytes. Expressed in CD4+ and CD8+ T-cells, CD19+ B-cells and CB14+ monocytes. Isoform 3 is strongly expressed in placenta, ovary, tonsil, CD19+ B-cells and CD14+ monocytes.

Evidence on tissue expression from TISSUES for ZFAT Gene

  • Nervous system(4.2)
  • Skin(4)
  • Pancreas(3.3)
genes like me logo Genes that share expression patterns with ZFAT: view

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

Orthologs for ZFAT Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZFAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFAT 33 34
  • 99.54 (n)
mouse
(Mus musculus)
Mammalia Zfat 33 16 34
  • 85.9 (n)
dog
(Canis familiaris)
Mammalia ZFAT 33 34
  • 85.85 (n)
rat
(Rattus norvegicus)
Mammalia Zfat 33
  • 85.47 (n)
cow
(Bos Taurus)
Mammalia ZFAT 33 34
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFAT 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFAT 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFAT 33 34
  • 71.24 (n)
lizard
(Anolis carolinensis)
Reptilia ZFAT 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfat 33
  • 66.92 (n)
Str.17491 33
zebrafish
(Danio rerio)
Actinopterygii zfat 33 34
  • 64.54 (n)
Species where no ortholog for ZFAT 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)
  • 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 ZFAT Gene

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

Paralogs for ZFAT Gene

Variants for ZFAT Gene

Sequence variations from dbSNP and Humsavar for ZFAT Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs112892337 uncertain-significance, not specified 134,602,310(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000010895 -- 134,614,022(-) C/T intron_variant
rs1000011504 -- 134,651,772(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000030647 -- 134,714,407(-) T/C upstream_transcript_variant
rs1000036243 -- 134,514,551(-) T/G genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1297525 CNV deletion 17803354
esv25625 CNV loss 19812545
esv25822 CNV gain+loss 19812545
esv2660261 CNV deletion 23128226
esv2737626 CNV deletion 23290073
esv2737627 CNV deletion 23290073
esv2737628 CNV deletion 23290073
esv2737630 CNV deletion 23290073
esv3353370 CNV duplication 20981092
esv3407459 CNV duplication 20981092
esv3434172 CNV duplication 20981092
esv3618908 CNV loss 21293372
esv3618909 CNV loss 21293372
esv3891486 CNV gain 25118596
nsv1129813 CNV tandem duplication 24896259
nsv1139945 CNV duplication 24896259
nsv397081 CNV deletion 16902084
nsv525439 CNV loss 19592680
nsv612335 CNV loss 21841781
nsv820465 CNV deletion 20802225

Variation tolerance for ZFAT Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.76; 73.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFAT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ZFAT Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZFAT Gene - From: HGMD, OMIM, ClinVar, GTR, and DISEASES

Disorder Aliases PubMed IDs
autoimmune thyroid disease 3
  • autoimmune thyroid disease, susceptibility to, 3
croup
  • acute laryngotracheobronchitis
childhood type dermatomyositis
  • childhood dermatomyositis
- elite association - COSMIC cancer census association via MalaCards
Search ZFAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZFAT

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 ZFAT: view

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

Publications for ZFAT Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A … Haiman CA (PLoS genetics 2011) 3 44 58
  3. Detecting rare variants for complex traits using family and unrelated data. (PMID: 19847924) Zhu X … Elston RC (Genetic epidemiology 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58

Products for ZFAT Gene

Sources for ZFAT Gene

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