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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
  • 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's disease.

UniProtKB/Swiss-Prot for UBAC2 Gene

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

No data available for Entrez Gene 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

Promoters for UBAC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBAC2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for UBAC2 Gene at MOPED

Post-translational modifications for UBAC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UBAC2 Gene

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

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NBM4

UniProtKB/Swiss-Prot:

UBAC2_HUMAN :
  • Contains 1 UBA domain.
Domain:
  • Contains 1 UBA domain.
genes like me logo Genes that share domains with UBAC2: view

Function for UBAC2 Gene

Molecular function for UBAC2 Gene

UniProtKB/Swiss-Prot Function:
Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.
genes like me logo Genes that share phenotypes with UBAC2: view

Animal Model Products

CRISPR Products

miRNA for UBAC2 Gene

miRTarBase miRNAs that target UBAC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for UBAC2 Gene 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:0005789 endoplasmic reticulum 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

None

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

Drugs & Compounds for UBAC2 Gene

No Compound Related Data Available

Transcripts for UBAC2 Gene

Unigene Clusters for UBAC2 Gene

UBA domain containing 2:
Representative Sequences:

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 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, MOPED, and MaxQB for UBAC2 Gene



SOURCE GeneReport for Unigene cluster for UBAC2 Gene Hs.508545

genes like me logo Genes that share expression patterns with UBAC2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia UBAC2 35
  • 86.82 (n)
  • 87.5 (a)
UBAC2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBAC2 35
  • 90.79 (n)
  • 90.7 (a)
UBAC2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubac2 35
  • 86.63 (n)
  • 89.24 (a)
Ubac2 16
Ubac2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBAC2 35
  • 99.81 (n)
  • 100 (a)
UBAC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubac2 35
  • 86.43 (n)
  • 89.24 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia UBAC2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBAC2 35
  • 76.58 (n)
  • 80.76 (a)
UBAC2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBAC2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubac2 35
  • 66.96 (n)
  • 67.46 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:158645 35
  • 65.89 (n)
  • 64.62 (a)
UBAC2 (1 of 2) 36
  • 63 (a)
OneToMany
UBAC2 (2 of 2) 36
  • 59 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G41160 35
  • 43.43 (n)
  • 32.85 (a)
rice
(Oryza sativa)
Liliopsida Os01g0268800 35
  • 43.65 (n)
  • 31.67 (a)
Species with no ortholog for UBAC2:
  • 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:

Pseudogenes.org Pseudogenes for UBAC2 Gene

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
rs752820 -- 99,217,858(+) TCCAC(C/G/T)GAGCT intron-variant
rs877856 -- 99,341,776(-) TCTCA(C/T)ACCTT intron-variant
rs701537 -- 99,386,017(+) TGGAG(A/T)AGAAC nc-transcript-variant, utr-variant-3-prime
rs912129 -- 99,381,398(-) TCCAT(C/T)TGCTG intron-variant
rs912130 -- 99,380,148(-) aatgg(A/C)aagtt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv523519 CNV Loss 19592680
nsv521902 CNV Loss 19592680
dgv1783n71 CNV Loss 21882294
esv8421 OTHER Inversion 19470904

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

HapMap Linkage Disequilibrium report
UBAC2
Human Gene Mutation Database (HGMD)
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 and DISEASES

Disorder Aliases PubMed IDs
behcet's disease
  • adamantiades-behcet 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 67
  2. Identification of ERAD components essential for dislocation of the null Hong Kong variant of I+-1-antitrypsin (NHK). (PMID: 25660456) Zhong Y. … Fang S. (Biochem. Biophys. Res. Commun. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Subunit architecture of the Golgi Dsc E3 ligase required for sterol regulatory element-binding protein (SREBP) cleavage in fission yeast. (PMID: 23760507) Lloyd S.J. … Espenshade P.J. (J. Biol. Chem. 2013) 3

Products for UBAC2 Gene

Sources for UBAC2 Gene

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