Aliases for ZNHIT2 Gene

Aliases for ZNHIT2 Gene

  • Zinc Finger HIT-Type Containing 2 2 3 5
  • Zinc Finger HIT Domain-Containing Protein 2 3 4
  • Zinc Finger, HIT Domain Containing 2 2 3
  • C11orf5 3 4
  • FON 2 3
  • Chromosome 11 Open Reading Frame 5 2
  • Zinc Finger, HIT Type 2 3
  • Protein FON 4
  • ZNHIT2 5

External Ids for ZNHIT2 Gene

Previous HGNC Symbols for ZNHIT2 Gene

  • C11orf5

Previous GeneCards Identifiers for ZNHIT2 Gene

  • GC11M064640
  • GC11M064883
  • GC11M061210
  • GC11M065117

Summaries for ZNHIT2 Gene

GeneCards Summary for ZNHIT2 Gene

ZNHIT2 (Zinc Finger HIT-Type Containing 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for ZNHIT2 Gene

  • May act as a bridging factor mediating the interaction between the R2TP/Prefoldin-like (R2TP/PFDL) complex and U5 small nuclear ribonucleoprotein (U5 snRNP) (PubMed:28561026). Required for the interaction of R2TP complex subunit RPAP3 and prefoldin-like subunit URI1 with U5 snRNP proteins EFTUD2 and PRPF8 (PubMed:28561026). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNHIT2 Gene

Genomics for ZNHIT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNHIT2 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 ZNHIT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNHIT2

Top Transcription factor binding sites by QIAGEN in the ZNHIT2 gene promoter:
  • AP-1
  • ATF
  • ATF6
  • GR
  • GR-alpha
  • GR-beta
  • HEN1

Genomic Locations for ZNHIT2 Gene

Latest Assembly
chr11:65,116,403-65,117,701
(GRCh38/hg38)
Size:
1,299 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,883,875-64,885,173
(GRCh37/hg19 by Entrez Gene)
Size:
1,299 bases
Orientation:
Minus strand

chr11:64,883,875-64,885,170
(GRCh37/hg19 by Ensembl)
Size:
1,296 bases
Orientation:
Minus strand

Genomic View for ZNHIT2 Gene

Genes around ZNHIT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNHIT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNHIT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNHIT2 Gene

Proteins for ZNHIT2 Gene

  • Protein details for ZNHIT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHR6-ZNHI2_HUMAN
    Recommended name:
    Zinc finger HIT domain-containing protein 2
    Protein Accession:
    Q9UHR6
    Secondary Accessions:
    • Q3SY14
    • Q8IUV0

    Protein attributes for ZNHIT2 Gene

    Size:
    403 amino acids
    Molecular mass:
    42884 Da
    Quaternary structure:
    • Interacts (via HIT-type zinc finger) with RUVBL2 in the presence of ATP or ADP; shows a stronger interaction in the presence of ADP.

    Three dimensional structures from OCA and Proteopedia for ZNHIT2 Gene

neXtProt entry for ZNHIT2 Gene

Post-translational modifications for ZNHIT2 Gene

  • Ubiquitination at Lys303
  • Modification sites at PhosphoSitePlus

Other Protein References for ZNHIT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNHIT2 Gene

Domains & Families for ZNHIT2 Gene

Gene Families for ZNHIT2 Gene

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

Protein Domains for ZNHIT2 Gene

InterPro:
Blocks:
  • HIT Zn-finger
ProtoNet:

Suggested Antigen Peptide Sequences for ZNHIT2 Gene

GenScript: Design optimal peptide antigens:
  • ZNHIT2 protein (A0PJH8_HUMAN)
  • Protein FON (ZNHI2_HUMAN)
genes like me logo Genes that share domains with ZNHIT2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZNHIT2 Gene

Function for ZNHIT2 Gene

Molecular function for ZNHIT2 Gene

UniProtKB/Swiss-Prot Function:
May act as a bridging factor mediating the interaction between the R2TP/Prefoldin-like (R2TP/PFDL) complex and U5 small nuclear ribonucleoprotein (U5 snRNP) (PubMed:28561026). Required for the interaction of R2TP complex subunit RPAP3 and prefoldin-like subunit URI1 with U5 snRNP proteins EFTUD2 and PRPF8 (PubMed:28561026). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026).

Phenotypes From GWAS Catalog for ZNHIT2 Gene

Gene Ontology (GO) - Molecular Function for ZNHIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28514442
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNHIT2: view
genes like me logo Genes that share phenotypes with ZNHIT2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ZNHIT2

miRNA for ZNHIT2 Gene

miRTarBase miRNAs that target ZNHIT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNHIT2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNHIT2 Gene

Localization for ZNHIT2 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 ZNHIT2 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ZNHIT2 Gene

Pathways & Interactions for ZNHIT2 Gene

PathCards logo

SuperPathways for ZNHIT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNHIT2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZNHIT2 Gene

Drugs & Compounds for ZNHIT2 Gene

No Compound Related Data Available

Transcripts for ZNHIT2 Gene

mRNA/cDNA for ZNHIT2 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 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 ZNHIT2

Alternative Splicing Database (ASD) splice patterns (SP) for ZNHIT2 Gene

No ASD Table

Relevant External Links for ZNHIT2 Gene

GeneLoc Exon Structure for
ZNHIT2

Expression for ZNHIT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNHIT2 Gene

mRNA differential expression in normal tissues according to GTEx for ZNHIT2 Gene

This gene is overexpressed in Testis (x6.7).

Protein differential expression in normal tissues from HIPED for ZNHIT2 Gene

This gene is overexpressed in Testis (41.2) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNHIT2 Gene



Protein tissue co-expression partners for ZNHIT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNHIT2

SOURCE GeneReport for Unigene cluster for ZNHIT2 Gene:

Hs.121025

mRNA Expression by UniProt/SwissProt for ZNHIT2 Gene:

Q9UHR6-ZNHI2_HUMAN
Tissue specificity: Low expression in most tissues; highly expressed in testis.

Evidence on tissue expression from TISSUES for ZNHIT2 Gene

  • Pancreas(4.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ZNHIT2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNHIT2 Gene

Orthologs for ZNHIT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ZNHIT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNHIT2 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNHIT2 30 31
  • 86.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNHIT2 30 31
  • 85.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Znhit2 30 17 31
  • 81.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Znhit2 30
  • 80.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia ZNHIT2 31
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNHIT2 31
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znhit2 30
  • 45.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii znhit2 30 31
  • 45.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001270 30
  • 44.36 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31223 30
Worm
(Caenorhabditis elegans)
Secernentea zhit-2 31
  • 26 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G63830 30
  • 39.76 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0520700 30
  • 44.44 (n)
Species where no ortholog for ZNHIT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 ZNHIT2 Gene

ENSEMBL:
Gene Tree for ZNHIT2 (if available)
TreeFam:
Gene Tree for ZNHIT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNHIT2: view image

Paralogs for ZNHIT2 Gene

No data available for Paralogs for ZNHIT2 Gene

Variants for ZNHIT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNHIT2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs34393594 Benign: not provided 65,117,630(-) G/A
NM_014205.4(ZNHIT2):c.24C>T (p.Gly8=)
SYNONYMOUS
rs34563314 Benign: not provided 65,117,464(-) G/A
NM_014205.4(ZNHIT2):c.190C>T (p.Leu64=)
SYNONYMOUS
VAR_035720 A breast cancer sample p.Ala59Pro
rs11556920 - p.Glu155Lys
rs35983251 - p.Ala176Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZNHIT2 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 ZNHIT2 Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680

Variation tolerance for ZNHIT2 Gene

Residual Variation Intolerance Score: 76.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNHIT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNHIT2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNHIT2 Gene

Disorders for ZNHIT2 Gene

Additional Disease Information for ZNHIT2

No disorders were found for ZNHIT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZNHIT2 Gene

Publications for ZNHIT2 Gene

  1. Solution structure of the zinc finger HIT domain in protein FON. (PMID: 17656577) He F … Yokoyama S (Protein science : a publication of the Protein Society 2007) 3 4 23
  2. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 4
  3. 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
  4. Molecular characterization of human and murine C11orf5, a new member of the FAUNA gene cluster. (PMID: 10602999) Lemmens IH … Kas K (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ZNHIT2 Gene

Sources for ZNHIT2 Gene