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Aliases for ZC3H14 Gene

Aliases for ZC3H14 Gene

  • Zinc Finger CCCH-Type Containing 14 2 3 5
  • Mammalian Suppressor Of Tau Pathology-2 3 4
  • Renal Carcinoma Antigen NY-REN-37 3 4
  • MSUT-2 3 4
  • Zinc Finger CCCH Domain-Containing Protein 14 3
  • Nuclear Protein UKp68 3
  • NY-REN-37 3
  • MRT56 3
  • UKp68 3
  • SUT2 3

External Ids for ZC3H14 Gene

Previous GeneCards Identifiers for ZC3H14 Gene

  • GC14P088100
  • GC14P089029
  • GC14P069199

Summaries for ZC3H14 Gene

Entrez Gene Summary for ZC3H14 Gene

  • The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]

GeneCards Summary for ZC3H14 Gene

ZC3H14 (Zinc Finger CCCH-Type Containing 14) is a Protein Coding gene. Diseases associated with ZC3H14 include Autosomal Recessive Non-Syndromic Intellectual Disability. GO annotations related to this gene include poly(A) RNA binding and poly(A) binding.

UniProtKB/Swiss-Prot for ZC3H14 Gene

  • Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZC3H14 Gene

Genomics for ZC3H14 Gene

Regulatory Elements for ZC3H14 Gene

Enhancers for ZC3H14 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
GH14G089032 0.8 FANTOM5 20.3 +469.3 469341 0.2 USF1 MAX ZBTB40 DIDO1 L3MBTL2 BHLHE40 ELF4 USF2 NFYC ELF1 ZC3H14 LOC105370615 PIR56234
GH14G088612 1.1 Ensembl ENCODE 12.1 +51.0 51008 2.6 FOXA2 ARID4B RAD21 YY1 GATA2 FOS CREM MIXL1 HMG20B CEBPB ZC3H14 ENSG00000278576 PIR31268
GH14G088492 1 Ensembl ENCODE 10.7 -70.1 -70148 1.0 CTCF FOXA2 ARID4B RAD21 TEAD3 GATA3 POLR2A FOXK2 ZNF143 SMC3 ZC3H14 SPATA7 LOC105370614
GH14G088534 0.7 ENCODE 11.5 -27.4 -27423 1.3 ELF3 SOX13 CTCF ARID4B CEBPG THRB TEAD3 ZNF335 HOMEZ SOX5 ZC3H14 SPATA7 ENSG00000258789 RNU4-22P
GH14G088562 1 ENCODE 0.7 +0.5 471 2.4 HNRNPUL1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 FAM35CP ZC3H14 ENSG00000278576
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZC3H14 on UCSC Golden Path with GeneCards custom track

Promoters for ZC3H14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071721 491 1601 HNRNPUL1 ATF1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 GTF3C2

Genomic Location for ZC3H14 Gene

Chromosome:
14
Start:
88,562,909 bp from pter
End:
88,627,596 bp from pter
Size:
64,688 bases
Orientation:
Plus strand

Genomic View for ZC3H14 Gene

Genes around ZC3H14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZC3H14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZC3H14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZC3H14 Gene

Proteins for ZC3H14 Gene

  • Protein details for ZC3H14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJT7-ZC3HE_HUMAN
    Recommended name:
    Zinc finger CCCH domain-containing protein 14
    Protein Accession:
    Q6PJT7
    Secondary Accessions:
    • A8MY46
    • B4DXU8
    • B4DZW7
    • B4E2H4
    • G3V5R4
    • Q6MZU4
    • Q6PJ32
    • Q6PUI6
    • Q6PUI8
    • Q86TQ5
    • Q86TW0
    • Q86TW1
    • Q8NCT6
    • Q8NCZ3
    • Q8TDE2
    • Q9HAC9
    • Q9Y5A0

    Protein attributes for ZC3H14 Gene

    Size:
    736 amino acids
    Molecular mass:
    82876 Da
    Quaternary structure:
    • Interacts with HOOK2.
    Miscellaneous:
    • ZC3H14 can functionally substitute for Nab2 in fly neurons and can rescue defects in development and locomotion that are present in dNab2 null flies.
    SequenceCaution:
    • Sequence=AAL83289.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAS90302.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAS90302.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AK021868; Type=Frameshift; Positions=199; Evidence={ECO:0000305}; Sequence=CAE45933.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZC3H14 Gene

neXtProt entry for ZC3H14 Gene

Post-translational modifications for ZC3H14 Gene

  • Ubiquitination at isoforms=10, 2, 3, 4, 5, 999, posLast=139139, posLast=245245, isoforms=10, 11, 2, 3, 4, 5, 9283, posLast=368368, posLast=378378, posLast=489489, and posLast=728728
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZC3H14 Gene

Domains & Families for ZC3H14 Gene

Gene Families for ZC3H14 Gene

Protein Domains for ZC3H14 Gene

Suggested Antigen Peptide Sequences for ZC3H14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PJT7

UniProtKB/Swiss-Prot:

ZC3HE_HUMAN :
  • Belongs to the ZC3H14 family.
Family:
  • Belongs to the ZC3H14 family.
genes like me logo Genes that share domains with ZC3H14: view

Function for ZC3H14 Gene

Molecular function for ZC3H14 Gene

UniProtKB/Swiss-Prot Function:
Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides.

Gene Ontology (GO) - Molecular Function for ZC3H14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 19273536
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZC3H14: view
genes like me logo Genes that share phenotypes with ZC3H14: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZC3H14 Gene

Localization for ZC3H14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZC3H14 Gene

Nucleus speckle.
Isoform 1: Nucleus speckle.
Isoform 3: Nucleus speckle.
Isoform 6: Cytoplasm.

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 ZC3H14 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ZC3H14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19303045
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ZC3H14: view

Pathways & Interactions for ZC3H14 Gene

SuperPathways for ZC3H14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZC3H14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with ZC3H14: view

No data available for Pathways by source and SIGNOR curated interactions for ZC3H14 Gene

Drugs & Compounds for ZC3H14 Gene

No Compound Related Data Available

Transcripts for ZC3H14 Gene

Unigene Clusters for ZC3H14 Gene

Zinc finger CCCH-type containing 14:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZC3H14 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - -
SP5:
SP6: - - -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11: - - - -
SP12: - - - -
SP13: -
SP14:
SP15: - - -
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21: -

ExUns: 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - - - - - - - -
SP6: - -
SP7:
SP8:
SP9: - - - - - - - -
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14: - - -
SP15: -
SP16: -
SP17: -
SP18:
SP19:
SP20:
SP21:

Relevant External Links for ZC3H14 Gene

GeneLoc Exon Structure for
ZC3H14
ECgene alternative splicing isoforms for
ZC3H14

Expression for ZC3H14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZC3H14 Gene

mRNA differential expression in normal tissues according to GTEx for ZC3H14 Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for ZC3H14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.6), Testis (9.5), and Breast (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZC3H14 Gene



Protein tissue co-expression partners for ZC3H14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZC3H14 Gene:

ZC3H14

SOURCE GeneReport for Unigene cluster for ZC3H14 Gene:

Hs.686171

mRNA Expression by UniProt/SwissProt for ZC3H14 Gene:

Q6PJT7-ZC3HE_HUMAN
Tissue specificity: Isoform 1 and isoform 6 are expressed in fetal and adult brain. Isoform 1 and isoform 6 are expressed in fetal and adult temporal lobe.

Evidence on tissue expression from TISSUES for ZC3H14 Gene

  • Liver(4.3)
  • Skin(4.3)
  • Muscle(4.2)
  • Nervous system(3.9)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZC3H14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with ZC3H14: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZC3H14 Gene

Orthologs for ZC3H14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ZC3H14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZC3H14 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia ZC3H14 34 35
  • 93.88 (n)
mouse
(Mus musculus)
Mammalia Zc3h14 34 16 35
  • 90.61 (n)
rat
(Rattus norvegicus)
Mammalia Zc3h14 34
  • 90.61 (n)
cow
(Bos Taurus)
Mammalia ZC3H14 34 35
  • 88.92 (n)
oppossum
(Monodelphis domestica)
Mammalia ZC3H14 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves ZC3H14 34 35
  • 72.23 (n)
lizard
(Anolis carolinensis)
Reptilia ZC3H14 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zc3h14 34
  • 59.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23969 34
zebrafish
(Danio rerio)
Actinopterygii zc3h14 34 35
  • 57.08 (n)
Dr.13570 34
fruit fly
(Drosophila melanogaster)
Insecta Nab2 35
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sut-2 35
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAB2 37
Species where no ortholog for ZC3H14 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)
  • 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)
  • 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)

Evolution for ZC3H14 Gene

ENSEMBL:
Gene Tree for ZC3H14 (if available)
TreeFam:
Gene Tree for ZC3H14 (if available)

Paralogs for ZC3H14 Gene

Pseudogenes.org Pseudogenes for ZC3H14 Gene

genes like me logo Genes that share paralogs with ZC3H14: view

No data available for Paralogs for ZC3H14 Gene

Variants for ZC3H14 Gene

Sequence variations from dbSNP and Humsavar for ZC3H14 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs886037950 Pathogenic 88,572,606(+) CAACC(C/T)GACTA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs1469602 Likely benign 88,575,836(-) GTCTA(A/C)AAGAG intron-variant
rs77755006 Likely benign 88,572,575(+) TTAAA(C/T)AGACA intron-variant
rs139980286 Uncertain significance 88,610,865(+) AAGAC(C/T)GGACT nc-transcript-variant, reference, missense
rs144843433 Uncertain significance 88,611,746(+) TCAGC(A/G)AATAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ZC3H14 Gene

Variant ID Type Subtype PubMed ID
esv2748994 CNV deletion 23290073
esv2748995 CNV deletion 23290073
esv2748997 CNV deletion 23290073
esv3635277 CNV gain 21293372
nsv1049685 CNV gain 25217958
nsv1108915 CNV deletion 24896259
nsv456391 CNV gain 19166990
nsv565512 CNV gain 21841781
nsv820243 CNV gain 19587683

Variation tolerance for ZC3H14 Gene

Residual Variation Intolerance Score: 9.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZC3H14 Gene

Human Gene Mutation Database (HGMD)
ZC3H14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZC3H14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZC3H14 Gene

Disorders for ZC3H14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZC3H14 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZC3HE_HUMAN
  • Mental retardation, autosomal recessive 56 (MRT56) [MIM:617125]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21734151}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZC3H14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZC3H14
genes like me logo Genes that share disorders with ZC3H14: view

No data available for Genatlas for ZC3H14 Gene

Publications for ZC3H14 Gene

  1. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 4 64
  2. A conserved role for the zinc finger polyadenosine RNA binding protein, ZC3H14, in control of poly(A) tail length. (PMID: 24671764) Kelly S.M. … Corbett A.H. (RNA 2014) 3 4 64
  3. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. (PMID: 21734151) Pak C. … Kuss A.W. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  4. SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. (PMID: 19273536) Guthrie C.R. … Kraemer B.C. (Hum. Mol. Genet. 2009) 3 4 64
  5. Splice variants of the human ZC3H14 gene generate multiple isoforms of a zinc finger polyadenosine RNA binding protein. (PMID: 19303045) Leung S.W. … Corbett A.H. (Gene 2009) 3 4 64

Products for ZC3H14 Gene

Sources for ZC3H14 Gene

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