Aliases for UBAC2 Gene

Aliases for UBAC2 Gene

  • UBA Domain Containing 2 2 3 5
  • Ubiquitin-Associated Domain-Containing Protein 2 3 4
  • Phosphoglycerate Dehydrogenase-Like Protein 1 3 4
  • Phosphoglycerate Dehydrogenase Like 1 2 3
  • UBA Domain-Containing Protein 2 3 4
  • RP11-178C10.1 2 3
  • PHGDHL1 3 4
  • FLJ30548 2
  • UBAC2 5

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 and Photoallergic Dermatitis. An important paralog of this gene is DDI2.

UniProtKB/Swiss-Prot Summary for UBAC2 Gene

  • Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBAC2 Gene

Genomics for UBAC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBAC2 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
GH13J099198 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 618.3 +0.2 224 5.1 HNRNPL CTCF PRDM10 ZNF629 IKZF1 POLR2A PRDM1 ZNF143 ZIC2 ZSCAN4 UBAC2 UBAC2-AS1 STK24-AS1 GPR18 RF00100-037 RN7SKP9 lnc-TM9SF2-8
GH13J099295 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 608.4 +105.5 105539 20.9 ATF7 TEAD4 RFX1 LEF1 IKZF1 POLR2A BACH1 JUND LARP7 STAT3 GPR183 UBAC2 MIR623 DOCK9 GPR18 CLYBL MN297217
GH13J099353 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.4 +157.7 157668 9 RFX1 BACH1 JUND FOXA1 RELA PKNOX1 REST IKZF2 SP1 TRIM22 MIR623 UBAC2 GPR18 GPR183 DOCK9 CLYBL HMGB3P4 lnc-TM9SF2-4 TM9SF2
GH13J099379 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 21.9 +182.0 181982 5 HNRNPL BACH1 IKZF2 TRIM22 PKNOX1 EED DPF2 RELB RUNX3 GATAD2B UBAC2 GPR18 GPR183 MIR623 DOCK9 CLYBL HMGB3P4 lnc-TM9SF2-4 lnc-UBAC2-4 TM9SF2
GH13J099978 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +783.1 783092 10.8 TEAD4 PRDM10 ZNF629 KDM1A ZNF692 FOXA1 PRDM1 ZIC2 ZSCAN4 POLR2A ZIC2 ZIC5 UBAC2 ENSG00000288060 HSALNG0098958 PCCA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBAC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBAC2

Top Transcription factor binding sites by QIAGEN in the UBAC2 gene promoter:
  • ATF6
  • COMP1
  • HSF1 (long)
  • HSF1short
  • Zic1

Genomic Locations for UBAC2 Gene

Genomic Locations for UBAC2 Gene
chr13:99,200,425-99,386,504
(GRCh38/hg38)
Size:
186,080 bases
Orientation:
Plus strand
chr13:99,852,679-100,038,753
(GRCh37/hg19)
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 (PubMed:23297223). Interacts with LMBR1L (PubMed:31073040). Interacts with AMFR and VCP (By similarity).
    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

  • Glycosylation at Asn161
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBAC2 Gene

Domains & Families for UBAC2 Gene

Gene Families for UBAC2 Gene

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

Protein Domains for UBAC2 Gene

InterPro:
Blocks:
  • Ubiquitin-associated domain
ProtoNet:

Suggested Antigen Peptide Sequences for UBAC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42413 fis, clone BLADE2001141, moderately similar to Mus musculus ubiquitin associated domain containing 2 (Ubac2), mRNA (B3KW74_HUMAN)
  • Phosphoglycerate dehydrogenase-like protein 1 (UBAC2_HUMAN)
genes like me logo Genes that share domains with UBAC2: view

No data available for Graphical View of Domain Structure and 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 (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040).

Phenotypes From GWAS Catalog for UBAC2 Gene

Gene Ontology (GO) - Molecular Function for UBAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

miRNA for UBAC2 Gene

miRTarBase miRNAs that target UBAC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBAC2

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

PathCards logo

SuperPathways for UBAC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016055 Wnt signaling pathway IEA --
GO:0070972 protein localization to endoplasmic reticulum IDA 23297223
GO:0090090 negative regulation of canonical Wnt signaling pathway IMP 31073040
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

Drugs & Compounds for UBAC2 Gene

No Compound Related Data Available

Transcripts for UBAC2 Gene

mRNA/cDNA for UBAC2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 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 UBAC2

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

Expression for UBAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for UBAC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBAC2

SOURCE GeneReport for Unigene cluster for UBAC2 Gene:

Hs.508545

Evidence on tissue expression from TISSUES for UBAC2 Gene

  • Nervous system(4.9)
  • Blood(4.3)
  • Skin(4)
  • Intestine(2.9)
  • Pancreas(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with UBAC2: view

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 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBAC2 30 31
  • 90.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBAC2 30 31
  • 86.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ubac2 30 17 31
  • 86.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ubac2 30
  • 86.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia UBAC2 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Chicken
(Gallus gallus)
Aves UBAC2 30 31
  • 76.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBAC2 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ubac2 30
  • 66.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:158645 30
  • 65.89 (n)
UBAC2 (1 of 2) 31
  • 63 (a)
OneToMany
UBAC2 (2 of 2) 31
  • 59 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G41160 30
  • 43.43 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0268800 30
  • 43.65 (n)
Species where no ortholog for UBAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for UBAC2: view image

Paralogs for UBAC2 Gene

Paralogs for UBAC2 Gene

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

  • UBAC2_HUMAN
  • Q5JUH4_HUMAN
genes like me logo Genes that share paralogs with UBAC2: view

Variants for UBAC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBAC2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
725483 Likely Benign: not provided 99,340,443(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
725628 Benign: not provided 99,340,506(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
739378 Benign: not provided 99,238,471(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
770422 Likely Benign: not provided 99,255,314(+) G/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for UBAC2 Gene

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)

Additional Variant Information for UBAC2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UBAC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBAC2 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
behcet syndrome
  • behcet disease; bd
photoallergic dermatitis
  • photoallergic contact dermatitis
hypopyon
- elite association - COSMIC cancer census association via MalaCards
Search UBAC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBAC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3 4
  2. Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover. (PMID: 23297223) Olzmann JA … Kopito RR (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  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

Products for UBAC2 Gene

  • Signalway Proteins for UBAC2

Sources for UBAC2 Gene