Aliases for UBN2 Gene

Aliases for UBN2 Gene

  • Ubinuclein 2 2 3 5
  • Ubinuclein-2 3 4
  • KIAA2030 4

External Ids for UBN2 Gene

Previous GeneCards Identifiers for UBN2 Gene

  • GC07P138568
  • GC07P138912
  • GC07P133226

Summaries for UBN2 Gene

GeneCards Summary for UBN2 Gene

UBN2 (Ubinuclein 2) is a Protein Coding gene. Diseases associated with UBN2 include Autism Spectrum Disorder and Autism. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is UBN1.

Additional gene information for UBN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBN2 Gene

Genomics for UBN2 Gene

GeneHancer (GH) Regulatory Elements for UBN2 Gene

Promoters and enhancers for UBN2 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
GH07J139258 Promoter 0.3 EPDnew 500.3 +28.9 28948 0.1 UBN2 piR-50443-349
GH07J139339 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 65.4 +111.6 111643 4 RXRA FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G LUC7L2 AJ535831-005 FMC1 FMC1-LUC7L2 TRR-CCT4-1 piR-30229 UBN2 ENSG00000273391 TTC26 KLRG2
GH07J139100 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 51.4 -123.0 -123026 13.1 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G BCLAF1 NONO GTF2E2 TTC26 ZC3HAV1 UBN2 LUC7L2 ZC3HAV1L PARP12 piR-56451-096
GH07J139357 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.4 +130.9 130948 5.4 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 USF1 POLR2G LUC7L2 ENSG00000273391 UBN2 RNU6-206P TTC26 ZC3HAV1L TBXAS1 FMC1-LUC7L2 NONHSAG048936.2
GH07J139229 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.7 +2.2 2229 3.6 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 NRF1 POLR2G PHF8 ZFX ZNF639 UBN2 ENSG00000273391 ZC3HAV1 piR-50443-349
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBN2

Top Transcription factor binding sites by QIAGEN in the UBN2 gene promoter:
  • AML1a
  • c-Myb
  • Cdc5
  • FOXF2
  • HOXA5
  • HTF
  • NF-kappaB1
  • Sox5
  • SRY

Genomic Locations for UBN2 Gene

Genomic Locations for UBN2 Gene
chr7:139,229,565-139,329,421
(GRCh38/hg38)
Size:
99,857 bases
Orientation:
Plus strand
chr7:138,915,102-138,992,982
(GRCh37/hg19)
Size:
77,881 bases
Orientation:
Plus strand

Genomic View for UBN2 Gene

Genes around UBN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBN2 Gene

Proteins for UBN2 Gene

  • Protein details for UBN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZU65-UBN2_HUMAN
    Recommended name:
    Ubinuclein-2
    Protein Accession:
    Q6ZU65
    Secondary Accessions:
    • A4D1S2
    • Q2YDY4
    • Q6P1K0
    • Q86XN9
    • Q8N7D1

    Protein attributes for UBN2 Gene

    Size:
    1347 amino acids
    Molecular mass:
    146089 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05362.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAL24038.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for UBN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBN2 Gene

Post-translational modifications for UBN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UBN2 Gene

No data available for DME Specific Peptides for UBN2 Gene

Domains & Families for UBN2 Gene

Gene Families for UBN2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UBN2 Gene

GenScript: Design optimal peptide antigens:
  • Ubinuclein-2 (UBN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZU65

UniProtKB/Swiss-Prot:

UBN2_HUMAN :
  • Belongs to the ubinuclein family.
Family:
  • Belongs to the ubinuclein family.
genes like me logo Genes that share domains with UBN2: view

Function for UBN2 Gene

Phenotypes From GWAS Catalog for UBN2 Gene

genes like me logo Genes that share phenotypes with UBN2: view

Animal Model Products

miRNA for UBN2 Gene

miRTarBase miRNAs that target UBN2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBN2 Gene

Localization for UBN2 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 UBN2 gene
Compartment Confidence
nucleus 5
golgi apparatus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with UBN2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBN2 Gene

Pathways & Interactions for UBN2 Gene

PathCards logo

SuperPathways for UBN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBN2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for UBN2 Gene

Drugs & Compounds for UBN2 Gene

No Compound Related Data Available

Transcripts for UBN2 Gene

mRNA/cDNA for UBN2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBN2 Gene

No ASD Table

Relevant External Links for UBN2 Gene

GeneLoc Exon Structure for
UBN2

Expression for UBN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBN2 Gene

This gene is overexpressed in Heart (35.4), Serum (17.2), and Esophagus (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBN2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBN2

SOURCE GeneReport for Unigene cluster for UBN2 Gene:

Hs.153458

mRNA Expression by UniProt/SwissProt for UBN2 Gene:

Q6ZU65-UBN2_HUMAN
Tissue specificity: Expressed in several cell lines tested, including primary and transformed cell lines.

Evidence on tissue expression from TISSUES for UBN2 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with UBN2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBN2 Gene

Orthologs for UBN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBN2 31 30
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBN2 31 30
  • 93.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBN2 31 30
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ubn2 17 31 30
  • 89.95 (n)
rat
(Rattus norvegicus)
Mammalia Ubn2 30
  • 89.57 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia UBN2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBN2 31 30
  • 77.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBN2 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubn2 30
  • 63.52 (n)
Str.3197 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15765 30
zebrafish
(Danio rerio)
Actinopterygii ubn2 31 30
  • 57.24 (n)
OneToMany
UBN2 (1 of 2) 31
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta yemalpha 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for UBN2 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)
  • 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 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 UBN2 Gene

ENSEMBL:
Gene Tree for UBN2 (if available)
TreeFam:
Gene Tree for UBN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBN2: view image

Paralogs for UBN2 Gene

Paralogs for UBN2 Gene

(1) SIMAP similar genes for UBN2 Gene using alignment to 3 proteins:

  • UBN2_HUMAN
  • C9J6Y5_HUMAN
  • H7C4P8_HUMAN
genes like me logo Genes that share paralogs with UBN2: view

Variants for UBN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBN2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
689795 Likely Pathogenic: Autism spectrum disorder 139,276,148(+) G/A SPLICE_DONOR_VARIANT
711893 Benign: not provided 139,283,666(+) T/G MISSENSE_VARIANT
725977 Benign: not provided 139,252,054(+) G/A SYNONYMOUS_VARIANT
778367 Benign: not provided 139,231,935(+) C/T SYNONYMOUS_VARIANT
784638 Benign: not provided 139,261,639(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for UBN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBN2 Gene

Variant ID Type Subtype PubMed ID
esv2206384 CNV deletion 18987734
esv2735212 CNV deletion 23290073
esv2759567 CNV gain 17122850
nsv477777 CNV novel sequence insertion 20440878

Variation tolerance for UBN2 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBN2 Gene

Human Gene Mutation Database (HGMD)
UBN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBN2 Gene

Disorders for UBN2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism spectrum disorder
  • asd
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search UBN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBN2

genes like me logo Genes that share disorders with UBN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBN2 Gene

Publications for UBN2 Gene

  1. Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. (PMID: 19029251) Banumathy G … Adams PD (Molecular and cellular biology 2009) 2 3 4 54
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 54
  3. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for UBN2 Gene

Sources for UBN2 Gene