Gene Gene information from NCBI Gene database.
Entrez ID 337867
Gene name UBA domain containing 2
Gene symbol UBAC2
Synonyms (NCBI Gene)
PHGDHL1
Chromosome 13
Chromosome location 13q32.3
miRNA miRNA information provided by mirtarbase database.
331
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 assayWestern blottingImmunohistochemistry (IHC)ImmunofluorescenceIn situ hybridizationFlow cytometry 32913183
MIRT2140277 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 30929738, 31619474
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 19442274, 21918955, 22455605, 28389674
★★☆☆☆
Found in Text Mining + Unknown/Other Associations