Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
337867
Gene name Gene Name - the full gene name approved by the HGNC.
UBA domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBAC2
Synonyms (NCBI Gene) Gene synonyms aliases
PHGDHL1
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024047 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT049669 hsa-miR-92a-3p CLASH 23622248
MIRT041748 hsa-miR-484 CLASH 23622248
MIRT735053 hsa-miR-182-5p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, In situ hybridization, Flow cytometry 32913183
MIRT2140277 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0005515 Function Protein binding IPI 22119785, 25416956, 28514442, 31073040, 32814053
GO:0005783 Component Endoplasmic reticulum IDA 23297223
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8NBM4
Protein name Ubiquitin-associated domain-containing protein 2 (UBA domain-containing protein 2) (Phosphoglycerate dehydrogenase-like protein 1)
Protein 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 pro
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00627 UBA 305 341 UBA/TS-N domain Domain
Sequence
MFTSTGSSGLYKAPLSKSLLLVPSALSLLLALLLPHCQKLFVYDLHAVKNDFQIWRLICG
RIICLDLKDTFCSSLLIYNFRIFERRYGSRKFASFLLGSWVLSALFDFLLIEAMQYFFGI
TAASNLPSGFLAPVFALFVPFYCSIPRVQVAQILGPLSITNKTLIYILGLQLFTSGSYIW
IVAISGLMSGLCYDSKMFQVHQVLCIPSWMAKFFSWTLEPIFSSSEPTSEARIGMGATLD
IQRQQRMELLDRQLMFSQFAQGRRQRQQQGGMINWNRLFPPLRQRQNVNYQGGRQSEPAA
PPLEVSEEQVARLMEMGFSRGDALEALRASNNDLNVATNFLLQH
Sequence length 344
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Age of onset of childhood onset asthma, Asthma (childhood onset), Asthma in any disease, Atopic asthma, Asthma, Pediatric asthma N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Behcet Syndrome Associate 19442274, 21918955, 22455605, 28389674
Carcinoma Basal Cell Associate 21700618
Central Nervous System Diseases Associate 28389674
Esophageal Squamous Cell Carcinoma Associate 37666951
Eye Infections Fungal Associate 28389674
Kidney Neoplasms Associate 30444862