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] See more...

Aliases for UBXN4 Gene

Aliases for UBXN4 Gene

  • UBX Domain Protein 4 2 3 5
  • Erasin 2 3 4
  • UBX Domain-Containing Protein 4 3 4
  • UBX Domain-Containing Protein 2 3 4
  • UBX Domain Containing 2 2 3
  • UBXDC1 3 4
  • UBXD2 3 4
  • UBX Domain-Containing 1 3
  • UBX Domain-Containing 2 2
  • 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 TNRC6C.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for UBXN4 Gene

Genomics for UBXN4 Gene

GeneHancer (GH) Regulatory Elements for UBXN4 Gene

Promoters and enhancers for UBXN4 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
GH02J135741 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 515.8 +2.0 1983 5.2 FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 NRF1 POLR2G USF1 GTF2E2 UBXN4 LOC107985946-001 NONHSAG029369.2 CCNT2 MCM6 DARS1 MAP3K19 NONHSAG029370.2
GH02J135983 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 39.6 +243.4 243432 3.9 SIN3A NRF1 TCF12 MYC POLR2G SP1 NCOR1 GTF2E2 PHF8 TEAD4 DARS1 DARS-AS1 lnc-MCM6-2 UBXN4 MCM6 CXCR4
GH02J136247 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 32.3 +506.5 506533 1.7 RBAK ZNF639 ZNF10 ZBTB10 ZNF623 TRIM28 ATF2 ZEB1 OSR2 ZNF585B UBXN4 ZRANB3 R3HDM1 CXCR4 HSALNG0019099 HSALNG0019103
GH02J135874 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 16.9 +134.1 134082 3 ZBTB40 ZNF217 SIN3A NRF1 MYC SP1 GTF2E2 PHF8 ZFX ZIC2 MCM6 CCNT2 UBXN4 CXCR4 DARS1 piR-34822-184
GH02J135535 Enhancer 0.7 Ensembl 42.4 -206.3 -206318 0.2 RBAK ZNF639 ZNF623 ZNF510 KLF7 ZNF266 ZBTB11 ZNF426 ZNF213 ZNF189 CCNT2 UBXN4 RAB3GAP1 MCM6 R3HDM1 lnc-UBXN4-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBXN4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBXN4

Top Transcription factor binding sites by QIAGEN in the UBXN4 gene promoter:
  • AML1a
  • AREB6
  • ATF6
  • MyoD
  • TBP
  • USF-1
  • USF1

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)
Size:
43,445 bases
Orientation:
Plus strand

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=Extended N-terminus.; 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 Lys459
  • 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:
  • UBX domain-containing protein 2 (UBXN4_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN4

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. {ECO:0000269 PubMed:16968747}.

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
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
extracellular 0

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

PathCards logo

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 ubiquitin-dependent ERAD pathway 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 Approved Nutra 7884
genes like me logo Genes that share compounds with UBXN4: view

Transcripts for UBXN4 Gene

mRNA/cDNA for UBXN4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN4

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

No ASD Table

Relevant External Links for UBXN4 Gene

GeneLoc Exon Structure for
UBXN4

Expression for UBXN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for UBXN4 Gene



Protein tissue co-expression partners for UBXN4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBXN4 31 30
  • 90.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBXN4 31 30
  • 90.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ubxn4 17 31 30
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Ubxn4 30
  • 84.91 (n)
oppossum
(Monodelphis domestica)
Mammalia UBXN4 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBXN4 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBXN4 31 30
  • 72.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBXN4 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubxn4 30
  • 65.35 (n)
Str.687 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15108 30
zebrafish
(Danio rerio)
Actinopterygii ubxn4 30
  • 59.78 (n)
Dr.16757 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2477 30
fruit fly
(Drosophila melanogaster)
Insecta CG8042 31
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ubxn-4 31 30
  • 42.67 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8299 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UBXN4: view image

Paralogs for UBXN4 Gene

Paralogs for UBXN4 Gene

(30) SIMAP similar genes for UBXN4 Gene using alignment to 4 proteins:

  • UBXN4_HUMAN
  • C9JLR4_HUMAN
  • F8WB86_HUMAN
  • Q6PJ80_HUMAN

Pseudogenes.org Pseudogenes for UBXN4 Gene

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

Variants for UBXN4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBXN4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2304602 - p.Ser458Arg

Additional dbSNP identifiers (rs#s) for UBXN4 Gene

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

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

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)

Additional Variant Information for UBXN4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UBXN4 Gene

Additional Disease Information for 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 54
  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 41 54
  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 54
  4. 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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for UBXN4 Gene

Sources for UBXN4 Gene