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Aliases for ZNF346 Gene

Aliases for ZNF346 Gene

  • Zinc Finger Protein 346 2 3 5
  • Just Another Zinc Finger Protein 3 4
  • JAZ 3 4
  • Double-Stranded RNA-Binding Zinc Finger Protein JAZ 3
  • Zfp346 3

External Ids for ZNF346 Gene

Previous GeneCards Identifiers for ZNF346 Gene

  • GC05P176431
  • GC05P176382
  • GC05P171371
  • GC05P176451

Summaries for ZNF346 Gene

Entrez Gene Summary for ZNF346 Gene

  • The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for ZNF346 Gene

ZNF346 (Zinc Finger Protein 346) is a Protein Coding gene. Diseases associated with ZNF346 include Kabuki Syndrome 1. GO annotations related to this gene include nucleic acid binding and enzyme binding. An important paralog of this gene is ZMAT4.

UniProtKB/Swiss-Prot for ZNF346 Gene

  • Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity.

Gene Wiki entry for ZNF346 Gene

Additional gene information for ZNF346 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF346 Gene

Genomics for ZNF346 Gene

Regulatory Elements for ZNF346 Gene

Enhancers for ZNF346 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H177402 1.4 ENCODE dbSUPER 90.4 +381.0 380975 3 HDGF ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZNF143 ZNF207 ZNF346 ENSG00000247679 LOC202181 FAF2 ZNF346-IT1 NSD1 ENSG00000248484 UIMC1 LOC105377752 OR1X5P
GH05H177453 1.7 Ensembl ENCODE dbSUPER 43 +434.2 434185 6 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF346 NSD1 ZNF346-IT1 LOC202181 UIMC1 ENSG00000247679 SLC34A1 F12 GRK6 PFN3
GH05H177004 1.1 ENCODE 42.6 -16.5 -16459 2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 FAF2 NSD1 ENSG00000250909 ENSG00000251414 ENSG00000247679 FAM193B ZNF346 LOC202181 ZNF346-IT1 UIMC1
GH05H177021 1.1 ENCODE 37.8 -0.1 -140 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF143 FAF2 NSD1 ENSG00000251414 ENSG00000250909 ENSG00000247679 ZNF346 FAM193B LOC202181 ZNF346-IT1 RPL21P60
GH05H176895 1.3 Ensembl ENCODE dbSUPER 29.9 -123.7 -123652 7 ZNF146 ZSCAN26 BATF ZIC2 ZBTB40 POLR2A FOXK2 EED ATF7 PRDM10 ZNF346 FGFR4 UNC5A ZNF346-IT1 UIMC1 HK3 GC05M176812
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF346 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF346 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191290 20 1401 HDGF ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF416

Genomic Location for ZNF346 Gene

Chromosome:
5
Start:
177,022,680 bp from pter
End:
177,081,189 bp from pter
Size:
58,510 bases
Orientation:
Plus strand

Genomic View for ZNF346 Gene

Genes around ZNF346 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF346 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF346 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF346 Gene

Proteins for ZNF346 Gene

  • Protein details for ZNF346 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL40-ZN346_HUMAN
    Recommended name:
    Zinc finger protein 346
    Protein Accession:
    Q9UL40
    Secondary Accessions:
    • B7Z367
    • Q68CV9
    • Q6ZMW1

    Protein attributes for ZNF346 Gene

    Size:
    294 amino acids
    Molecular mass:
    32933 Da
    Quaternary structure:
    • Forms a heteromeric complex with XPO5 and ILF3. Found in a nuclear export complex with XPO5, RAN, ILF3, ZNF346 and double-stranded RNA. Interacts with XPO5. Interacts with ILF3 in an RNA-independent manner.

    Three dimensional structures from OCA and Proteopedia for ZNF346 Gene

    Alternative splice isoforms for ZNF346 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF346 Gene

Post-translational modifications for ZNF346 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ZNF346 Gene

Domains & Families for ZNF346 Gene

Gene Families for ZNF346 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZNF346 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UL40

UniProtKB/Swiss-Prot:

ZN346_HUMAN :
  • The zinc-finger domains are required for binding to dsRNA, and also for nuclear localization.
Domain:
  • The zinc-finger domains are required for binding to dsRNA, and also for nuclear localization.
genes like me logo Genes that share domains with ZNF346: view

Function for ZNF346 Gene

Molecular function for ZNF346 Gene

UniProtKB/Swiss-Prot Function:
Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity.

Phenotypes From GWAS Catalog for ZNF346 Gene

Gene Ontology (GO) - Molecular Function for ZNF346 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 22681889
GO:0003725 double-stranded RNA binding IEA,IDA 10488071
GO:0005515 protein binding IPI 21903422
genes like me logo Genes that share ontologies with ZNF346: view
genes like me logo Genes that share phenotypes with ZNF346: view

Animal Models for ZNF346 Gene

MGI Knock Outs for ZNF346:

Animal Model Products

CRISPR Products

miRNA for ZNF346 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF346
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF346 Gene

Localization for ZNF346 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF346 Gene

Nucleus, nucleolus. Cytoplasm. Note=Nuclear at steady state, primarily in the nucleolus. Shuttles between the nucleus and cytoplasm when associated with XPO5.

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 ZNF346 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF346 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10488071
GO:0005730 nucleolus IEA,IDA 10488071
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ZNF346: view

Pathways & Interactions for ZNF346 Gene

SuperPathways for ZNF346 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF346 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043065 positive regulation of apoptotic process IEA --
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IBA --
genes like me logo Genes that share ontologies with ZNF346: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF346 Gene

Drugs & Compounds for ZNF346 Gene

(1) Drugs for ZNF346 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2359
genes like me logo Genes that share compounds with ZNF346: view

Transcripts for ZNF346 Gene

Unigene Clusters for ZNF346 Gene

Zinc finger protein 346:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF346
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF346 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - - - - - - - - - - - - -
SP11: - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:

ExUns: 11c · 11d · 11e · 11f ^ 12a · 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - - - -
SP7:
SP8:
SP9:
SP10: - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for ZNF346 Gene

GeneLoc Exon Structure for
ZNF346
ECgene alternative splicing isoforms for
ZNF346

Expression for ZNF346 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF346 Gene

Protein differential expression in normal tissues from HIPED for ZNF346 Gene

This gene is overexpressed in Lung (37.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF346 Gene



Protein tissue co-expression partners for ZNF346 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF346 Gene:

ZNF346

SOURCE GeneReport for Unigene cluster for ZNF346 Gene:

Hs.484259

Evidence on tissue expression from TISSUES for ZNF346 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ZNF346: view

Primer Products

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 ZNF346 Gene

Orthologs for ZNF346 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF346 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF346 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia ZNF346 33 34
  • 92.63 (n)
cow
(Bos Taurus)
Mammalia ZNF346 33 34
  • 92.38 (n)
mouse
(Mus musculus)
Mammalia Zfp346 33 16 34
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Zfp346 33
  • 85.21 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF346 34
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF346 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF346 33 34
  • 73.25 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF346 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf346 33
  • 62.62 (n)
Str.8765 33
African clawed frog
(Xenopus laevis)
Amphibia jaz-prov 33
zebrafish
(Danio rerio)
Actinopterygii LOC100538272 33
  • 61.43 (n)
CU914629.1 34
  • 46 (a)
OneToMany
znf346 34
  • 41 (a)
OneToMany
-- 33
Species where no ortholog for ZNF346 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 ZNF346 Gene

ENSEMBL:
Gene Tree for ZNF346 (if available)
TreeFam:
Gene Tree for ZNF346 (if available)

Paralogs for ZNF346 Gene

Paralogs for ZNF346 Gene

(1) SIMAP similar genes for ZNF346 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ZNF346: view

Variants for ZNF346 Gene

Sequence variations from dbSNP and Humsavar for ZNF346 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000081300 -- 177,067,064(+) GTCTC(-/AAAAT)AAATA intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000097001 -- 177,058,909(+) GTTTT(G/T)GTTTT intron-variant
rs1000129732 -- 177,058,586(+) AGATA(G/T)GATTT intron-variant
rs1000153445 -- 177,037,423(+) CCACC(-/TA)TATAT intron-variant
rs1000185971 -- 177,042,109(+) ACCCA(A/G)TTCAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ZNF346 Gene

Variant ID Type Subtype PubMed ID
dgv363n21 CNV gain 19592680
esv3607682 CNV gain 21293372
esv995054 CNV deletion 20482838
nsv509101 CNV insertion 20534489

Variation tolerance for ZNF346 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF346 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF346

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF346 Gene

Disorders for ZNF346 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF346 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZNF346

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF346
genes like me logo Genes that share disorders with ZNF346: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF346 Gene

Publications for ZNF346 Gene

  1. Nucleocytoplasmic shuttling of JAZ, a new cargo protein for exportin-5. (PMID: 15254228) Chen T … Macara IG (Molecular and cellular biology 2004) 3 4 22 60
  2. JAZ requires the double-stranded RNA-binding zinc finger motifs for nuclear localization. (PMID: 10488071) Yang M … Ito T (The Journal of biological chemistry 1999) 2 3 4 60
  3. Structural characterization of interactions between the double-stranded RNA-binding zinc finger protein JAZ and nucleic acids. (PMID: 24521053) Burge RG … Wright PE (Biochemistry 2014) 3 4 60
  4. Human IgG antibody profiles differentiate between symptomatic patients with and without colorectal cancer. (PMID: 19828471) Kijanka G … Kenny D (Gut 2010) 3 22 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ZNF346 Gene

Sources for ZNF346 Gene

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