Gene Gene information from NCBI Gene database.
Entrez ID 165324
Gene name UBX domain protein 2A
Gene symbol UBXN2A
Synonyms (NCBI Gene)
UBXD4
Chromosome 2
Chromosome location 2p23.3
miRNA miRNA information provided by mirtarbase database.
692
miRTarBase ID miRNA Experiments Reference
MIRT016205 hsa-miR-590-3p Sequencing 20371350
MIRT020181 hsa-miR-130b-3p Sequencing 20371350
MIRT028042 hsa-miR-93-5p Sequencing 20371350
MIRT714454 hsa-miR-3667-5p HITS-CLIP 19536157
MIRT714453 hsa-miR-6814-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0005515 Function Protein binding IPI 21900206, 24625977, 26265139, 26634371, 28514442, 29997244, 30980393, 32296183, 32814053, 33961781, 35271311, 37037900
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 24625977
GO:0005634 Component Nucleus 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.
P68543
Protein name UBX domain-containing protein 2A (UBX domain-containing protein 4)
Protein function Acts to repress the ubiquitination and subsequent endoplasmic reticulum-associated degradation of CHRNA3 by the STUB1-VCP-UBXN2A complex in cortical neurons (PubMed:26265139). Also acts to promote the translocation of CHRNA3 to the plasma membra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08059 SEP 65 138 SEP domain Domain
PF00789 UBX 168 247 UBX domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the colon (at protein level). {ECO:0000269|PubMed:37037900}.
Sequence
MKDVDNLKSIKEEWVCETGSDNQPLGNNQQSNCEYFVDSLFEEAQKVSSKCVSPAEQKKQ
VDVNIKLWKNGFTVNDDFRSYSDGASQQFLNSIKKGELPSELQGIFDKEEVDVKVEDKKN
EICLSTKPVFQPFSGQGH
RLGSATPKIVSKAKNIEVENKNNLSAVPLNNLEPITNIQIWL
ANGKRIVQKFNITHRVSHIKDFIEKYQGSQRSPPFSLATALPVLRLLDETLTLEEADLQN
AVIIQRL
QKTASFRELSEH
Sequence length 259
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein processing in endoplasmic reticulum  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Inhibit 26634371
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 26634371
★☆☆☆☆
Found in Text Mining only