Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UBXN4 Gene

Aliases for UBXN4 Gene

  • UBX Domain Protein 4 2 3 5
  • Erasin 2 3 4
  • UBX Domain-Containing Protein 2 3 4
  • UBX Domain Containing 2 2 3
  • UBXDC1 3 4
  • UBXD2 3 4
  • UBX Domain-Containing Protein 4 3
  • UBX Domain-Containing 2 2
  • UBX Domain-Containing 1 3
  • KIAA0242 4

External Ids for UBXN4 Gene

Previous HGNC Symbols for UBXN4 Gene

  • UBXDC1
  • UBXD2

Previous GeneCards Identifiers for UBXN4 Gene

  • GC02P136216
  • GC02P136500
  • GC02P128493

Summaries for UBXN4 Gene

Entrez Gene Summary for UBXN4 Gene

  • UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]

GeneCards Summary for UBXN4 Gene

UBXN4 (UBX Domain Protein 4) is a Protein Coding gene. An important paralog of this gene is UBXN1.

UniProtKB/Swiss-Prot for UBXN4 Gene

  • Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD (PubMed:19822669).

Gene Wiki entry for UBXN4 Gene

Additional gene information for UBXN4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBXN4 Gene

Genomics for UBXN4 Gene

Regulatory Elements for UBXN4 Gene

Enhancers for UBXN4 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
GH02H136247 1.9 FANTOM5 Ensembl ENCODE dbSUPER 41 +506.5 506534 1.7 FEZF1 GLI4 ZNF2 GLIS2 FOS SP3 YY2 REST TSHZ1 ZNF488 UBXN4 SMC4P1 ZRANB3 R3HDM1 CXCR4 ENSG00000279024 UBBP1
GH02H135529 1.1 ENCODE 27 -210.4 -210407 4.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143 FOS UBXN4 MCM6 CCNT2 MAP3K19 ZRANB3 LOC100422338
GH02H136124 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +391.2 391187 17.4 HDGF PKNOX1 TBL1XR1 NFIB RB1 BMI1 FEZF1 YBX1 BATF RAD21 CXCR4 UBXN4 DARS MCM6 GC02P136118 HNRNPKP2
GH02H135874 1.4 FANTOM5 ENCODE 15.6 +134.4 134368 2.3 FOXA2 ATF1 ARNT ARID4B SIN3A DMAP1 GTF3C2 SLC30A9 ELK1 ZNF207 UBXN4 CXCR4 CCNT2 DARS MCM6 GC02M135791
GH02H136113 1.2 ENCODE dbSUPER 11.3 +375.3 375308 6.1 HDGF PKNOX1 SIN3A ZNF2 GLIS2 ZNF207 RUNX3 SP3 REST SMARCB1 UBXN4 MCM6 GC02M136119 GC02M136118 PIR53340
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBXN4 on UCSC Golden Path with GeneCards custom track

Promoters for UBXN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000123516 982 2800 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1

Genomic Locations for UBXN4 Gene

Genomic Locations for UBXN4 Gene
chr2:135,741,619-135,785,063
(GRCh38/hg38)
Size:
43,445 bases
Orientation:
Plus strand
chr2:136,499,189-136,542,633
(GRCh37/hg19)

Genomic View for UBXN4 Gene

Genes around UBXN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBXN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBXN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBXN4 Gene

Proteins for UBXN4 Gene

  • Protein details for UBXN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92575-UBXN4_HUMAN
    Recommended name:
    UBX domain-containing protein 4
    Protein Accession:
    Q92575
    Secondary Accessions:
    • A8K9W4
    • Q4ZG56
    • Q8IYM5

    Protein attributes for UBXN4 Gene

    Size:
    508 amino acids
    Molecular mass:
    56778 Da
    Quaternary structure:
    • Directly interacts with VCP. Interacts with UBQLN1. Forms a complex with VCP and UBQLN1.
    SequenceCaution:
    • Sequence=BAA13437.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBXN4 Gene

neXtProt entry for UBXN4 Gene

Post-translational modifications for UBXN4 Gene

  • Ubiquitination at Lys285, Lys301, and posLast=459459
  • Modification sites at PhosphoSitePlus

Other Protein References for UBXN4 Gene

No data available for DME Specific Peptides for UBXN4 Gene

Domains & Families for UBXN4 Gene

Gene Families for UBXN4 Gene

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

Protein Domains for UBXN4 Gene

Suggested Antigen Peptide Sequences for UBXN4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92575

UniProtKB/Swiss-Prot:

UBXN4_HUMAN :
  • The UBX domain is required for interaction with VCP.
Domain:
  • The UBX domain is required for interaction with VCP.
  • The intramembrane domain also contains the signal for ER targeting.
genes like me logo Genes that share domains with UBXN4: view

Function for UBXN4 Gene

Molecular function for UBXN4 Gene

UniProtKB/Swiss-Prot Function:
Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD (PubMed:19822669).
UniProtKB/Swiss-Prot Induction:
By ER stress-inducing agents such as tunicamycin, thapsigargin, DTT and the calcium ionophore A23187 (at protein level).

Phenotypes From GWAS Catalog for UBXN4 Gene

Gene Ontology (GO) - Molecular Function for UBXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18775313
genes like me logo Genes that share ontologies with UBXN4: view
genes like me logo Genes that share phenotypes with UBXN4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBXN4 Gene

Localization for UBXN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBXN4 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Nucleus envelope. Note=Both the N- and the C-terminus face the cytosol. Also found in the nucleus envelope contiguous to the ER.

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 UBXN4 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with UBXN4: view

Pathways & Interactions for UBXN4 Gene

SuperPathways for UBXN4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 19822669
genes like me logo Genes that share ontologies with UBXN4: view

No data available for Pathways by source and SIGNOR curated interactions for UBXN4 Gene

Drugs & Compounds for UBXN4 Gene

(1) Drugs for UBXN4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with UBXN4: view

Transcripts for UBXN4 Gene

Unigene Clusters for UBXN4 Gene

UBX domain protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBXN4 Gene

No ASD Table

Relevant External Links for UBXN4 Gene

GeneLoc Exon Structure for
UBXN4
ECgene alternative splicing isoforms for
UBXN4

Expression for UBXN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBXN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBXN4 Gene

This gene is overexpressed in Nasal epithelium (17.2) and Breast (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBXN4 Gene



Protein tissue co-expression partners for UBXN4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBXN4 Gene:

UBXN4

SOURCE GeneReport for Unigene cluster for UBXN4 Gene:

Hs.591242

mRNA Expression by UniProt/SwissProt for UBXN4 Gene:

Q92575-UBXN4_HUMAN
Tissue specificity: Expressed in many tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Accumulates in Alzheimer disease-afflicted brains (at protein level).

Evidence on tissue expression from TISSUES for UBXN4 Gene

  • Skin(4.5)
  • Liver(4.4)
  • Bone marrow(4.3)
  • Eye(4.2)
  • Nervous system(4.2)
  • Kidney(2.9)
  • Pancreas(2.5)
genes like me logo Genes that share expression patterns with UBXN4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBXN4 Gene

Orthologs for UBXN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBXN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBXN4 33 34
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia UBXN4 33 34
  • 90.62 (n)
dog
(Canis familiaris)
Mammalia UBXN4 33 34
  • 90.6 (n)
mouse
(Mus musculus)
Mammalia Ubxn4 33 16 34
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Ubxn4 33
  • 84.91 (n)
oppossum
(Monodelphis domestica)
Mammalia UBXN4 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBXN4 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBXN4 33 34
  • 72.4 (n)
lizard
(Anolis carolinensis)
Reptilia UBXN4 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubxn4 33
  • 65.35 (n)
Str.687 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15108 33
zebrafish
(Danio rerio)
Actinopterygii ubxn4 33
  • 59.78 (n)
Dr.16757 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2477 33
fruit fly
(Drosophila melanogaster)
Insecta CG8042 34
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ubxn-4 33 34
  • 42.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8299 34
  • 30 (a)
OneToOne
Species where no ortholog for UBXN4 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)
  • 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)

Evolution for UBXN4 Gene

ENSEMBL:
Gene Tree for UBXN4 (if available)
TreeFam:
Gene Tree for UBXN4 (if available)

Paralogs for UBXN4 Gene

Paralogs for UBXN4 Gene

Pseudogenes.org Pseudogenes for UBXN4 Gene

genes like me logo Genes that share paralogs with UBXN4: view

Variants for UBXN4 Gene

Sequence variations from dbSNP and Humsavar for UBXN4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000004143 -- 135,778,746(+) AGTTA(C/T)AGAAG intron-variant
rs1000059371 -- 135,748,734(+) AAAAA(A/T)AAAAA intron-variant
rs1000096397 -- 135,748,019(+) ATTTA(G/T)ATGGC intron-variant
rs1000213057 -- 135,775,116(+) CCCAC(A/T)AAGTA intron-variant
rs1000262679 -- 135,759,281(+) AGAAA(A/G/T)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBXN4 Gene

Variant ID Type Subtype PubMed ID
nsv954247 CNV deletion 24416366
nsv821734 CNV loss 20364138
nsv819183 CNV loss 19587683
esv3592583 CNV loss 21293372
esv3592582 CNV gain 21293372
esv34026 CNV loss 18971310

Variation tolerance for UBXN4 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBXN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBXN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBXN4 Gene

Disorders for UBXN4 Gene

Relevant External Links for UBXN4

Genetic Association Database (GAD)
UBXN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBXN4

No disorders were found for UBXN4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UBXN4 Gene

Publications for UBXN4 Gene

  1. Characterization of erasin (UBXD2): a new ER protein that promotes ER-associated protein degradation. (PMID: 16968747) Liang J … Monteiro MJ (Journal of cell science 2006) 2 3 4 60
  2. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. (PMID: 21979947) Li X … Rabinowitz YS (Human molecular genetics 2012) 3 45 60
  3. Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD. (PMID: 19822669) Lim PJ … Monteiro MJ (The Journal of cell biology 2009) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for UBXN4 Gene

Sources for UBXN4 Gene

Content
Loading form....