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Aliases for UBAC2 Gene

Aliases for UBAC2 Gene

  • UBA Domain Containing 2 2 3 5
  • Phosphoglycerate Dehydrogenase-Like Protein 1 3 4
  • Phosphoglycerate Dehydrogenase Like 1 2 3
  • UBA Domain-Containing Protein 2 3 4
  • PHGDHL1 3 4
  • Ubiquitin-Associated Domain-Containing Protein 2 3
  • RP11-178C10.1 3

External Ids for UBAC2 Gene

Previous HGNC Symbols for UBAC2 Gene

  • PHGDHL1

Previous GeneCards Identifiers for UBAC2 Gene

  • GC13P098652
  • GC13P099852
  • GC13P080447

Summaries for UBAC2 Gene

GeneCards Summary for UBAC2 Gene

UBAC2 (UBA Domain Containing 2) is a Protein Coding gene. Diseases associated with UBAC2 include Behcet Syndrome.

UniProtKB/Swiss-Prot for UBAC2 Gene

  • Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBAC2 Gene

Genomics for UBAC2 Gene

Regulatory Elements for UBAC2 Gene

Enhancers for UBAC2 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
GH13G099379 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +182.0 181982 5.0 HDGF PKNOX1 FOXA2 ZSCAN4 WRNIP1 ZNF121 RELB ETV6 IKZF2 CREM UBAC2 GPR18 GPR183 MIR623 DOCK9 CLYBL GC13P099385 HMGB3P4
GH13G099279 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +81.8 81813 5.6 PKNOX1 TBL1XR1 BMI1 RAD21 YY1 ZNF121 RELB ETV6 IKZF2 CREM UBAC2 GPR183 MIR623 GPR18 DOCK9 GC13P099277
GH13G099269 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.6 +71.4 71358 4.4 HDGF RAD21 ZNF335 EGR1 EGR2 ZNF654 JUNB REST TBX21 MAFF UBAC2 GPR183 MIR623 GPR18 GC13P099277
GH13G099353 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +157.7 157668 9.0 HDGF PKNOX1 FOXA2 ATF1 SIN3A TCF12 ZNF766 GATA2 FOS JUNB UBAC2 GPR18 GPR183 DOCK9 CLYBL GC13P099358 HMGB3P4
GH13G099277 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17.3 +77.6 77599 0.9 TBX21 SPI1 UBAC2 GPR183 MIR623 GC13P099277
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBAC2 on UCSC Golden Path with GeneCards custom track

Promoters for UBAC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065042 475 2601 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 SP5

Genomic Location for UBAC2 Gene

Chromosome:
13
Start:
99,200,425 bp from pter
End:
99,386,499 bp from pter
Size:
186,075 bases
Orientation:
Plus strand

Genomic View for UBAC2 Gene

Genes around UBAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBAC2 Gene

Proteins for UBAC2 Gene

  • Protein details for UBAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBM4-UBAC2_HUMAN
    Recommended name:
    Ubiquitin-associated domain-containing protein 2
    Protein Accession:
    Q8NBM4
    Secondary Accessions:
    • B3KNV7
    • Q0VAB5
    • Q5W0W6
    • Q5W0W9
    • Q6GQR2
    • Q6P4B0
    • Q8N2E8
    • Q96NW2

    Protein attributes for UBAC2 Gene

    Size:
    344 amino acids
    Molecular mass:
    38964 Da
    Quaternary structure:
    • Interacts with FAF2.
    SequenceCaution:
    • Sequence=AAH72674.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI21139.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for UBAC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBAC2 Gene

Post-translational modifications for UBAC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UBAC2 Gene

Domains & Families for UBAC2 Gene

Gene Families for UBAC2 Gene

Protein Domains for UBAC2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UBAC2: view

No data available for UniProtKB/Swiss-Prot for UBAC2 Gene

Function for UBAC2 Gene

Molecular function for UBAC2 Gene

UniProtKB/Swiss-Prot Function:
Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.

Gene Ontology (GO) - Molecular Function for UBAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0043130 ubiquitin binding IBA --
genes like me logo Genes that share ontologies with UBAC2: view
genes like me logo Genes that share phenotypes with UBAC2: view

Human Phenotype Ontology for UBAC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for UBAC2 Gene

miRTarBase miRNAs that target UBAC2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UBAC2 Gene

Localization for UBAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBAC2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 UBAC2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for UBAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 23297223
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UBAC2: view

Pathways & Interactions for UBAC2 Gene

SuperPathways for UBAC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0070972 protein localization to endoplasmic reticulum IDA 23297223
GO:1904153 negative regulation of retrograde protein transport, ER to cytosol IMP 25660456
genes like me logo Genes that share ontologies with UBAC2: view

No data available for Pathways by source and SIGNOR curated interactions for UBAC2 Gene

Transcripts for UBAC2 Gene

Unigene Clusters for UBAC2 Gene

UBA domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBAC2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ·
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - -
SP6: -
SP7:
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - -
SP11:
SP12: - - -

ExUns: 14c ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for UBAC2 Gene

GeneLoc Exon Structure for
UBAC2
ECgene alternative splicing isoforms for
UBAC2

Expression for UBAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBAC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBAC2 Gene

This gene is overexpressed in Neutrophil (19.9), Lung (14.3), Peripheral blood mononuclear cells (10.0), and Bone marrow mesenchymal stem cell (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBAC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of UBAC2 Gene:

UBAC2

SOURCE GeneReport for Unigene cluster for UBAC2 Gene:

Hs.508545

Evidence on tissue expression from TISSUES for UBAC2 Gene

  • Nervous system(4.8)
  • Blood(4.2)
  • Skin(3.8)
  • Intestine(2.9)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with UBAC2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBAC2 Gene

Orthologs for UBAC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBAC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBAC2 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia UBAC2 34 35
  • 90.79 (n)
cow
(Bos Taurus)
Mammalia UBAC2 34 35
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Ubac2 34 16 35
  • 86.63 (n)
rat
(Rattus norvegicus)
Mammalia Ubac2 34
  • 86.43 (n)
oppossum
(Monodelphis domestica)
Mammalia UBAC2 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves UBAC2 34 35
  • 76.58 (n)
lizard
(Anolis carolinensis)
Reptilia UBAC2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubac2 34
  • 66.96 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:158645 34
  • 65.89 (n)
UBAC2 (1 of 2) 35
  • 63 (a)
OneToMany
UBAC2 (2 of 2) 35
  • 59 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G41160 34
  • 43.43 (n)
rice
(Oryza sativa)
Liliopsida Os01g0268800 34
  • 43.65 (n)
Species where no ortholog for UBAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBAC2 Gene

ENSEMBL:
Gene Tree for UBAC2 (if available)
TreeFam:
Gene Tree for UBAC2 (if available)

Paralogs for UBAC2 Gene

(1) SIMAP similar genes for UBAC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UBAC2: view

No data available for Paralogs for UBAC2 Gene

Variants for UBAC2 Gene

Sequence variations from dbSNP and Humsavar for UBAC2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000028324 -- 99,342,281(+) CCATG(C/T)GTACG intron-variant
rs1000040063 -- 99,306,387(+) CAGAT(A/G)TTAGG intron-variant
rs1000044259 -- 99,213,689(+) AATAA(C/G)TTTTT intron-variant
rs1000052114 -- 99,278,914(+) GGCTT(A/T)TGGTT intron-variant
rs1000085605 -- 99,365,727(+) TGTAT(A/G)TTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBAC2 Gene

Variant ID Type Subtype PubMed ID
esv3377620 CNV duplication 20981092
esv3402039 CNV duplication 20981092
esv3411800 CNV duplication 20981092
esv3447529 CNV duplication 20981092
esv3582749 CNV gain 25503493
esv3633327 CNV loss 21293372
esv3633328 CNV gain 21293372
esv3892433 CNV gain 25118596
esv8421 OTHER inversion 19470904
nsv1050094 CNV gain 25217958
nsv477538 CNV novel sequence insertion 20440878
nsv521902 CNV loss 19592680
nsv523519 CNV loss 19592680

Variation tolerance for UBAC2 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBAC2 Gene

Human Gene Mutation Database (HGMD)
UBAC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBAC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBAC2 Gene

Disorders for UBAC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBAC2 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
behcet syndrome
  • behcet's disease
- elite association - COSMIC cancer census association via MalaCards
Search UBAC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBAC2

Genetic Association Database (GAD)
UBAC2
Human Genome Epidemiology (HuGE) Navigator
UBAC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBAC2
genes like me logo Genes that share disorders with UBAC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBAC2 Gene

Publications for UBAC2 Gene

  1. Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover. (PMID: 23297223) Olzmann J.A. … Kopito R.R. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64

Products for UBAC2 Gene

Sources for UBAC2 Gene

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