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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 Show/Hide all (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 Show/Hide all (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.
Show/Hide Unknown Diseases (23)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog 30929738, 31036433, 31361310, 31619474, 31669095, 31959851, 32296059, 34103634, 34594039, 35104449, 36344522, 36777996, 37560908, 41213931
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog 31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog 40164604
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (48)
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
Behçet disease Behcet Syndrome Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 19442274, 21918955, 22455605, 28389674
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations