Gene Gene information from NCBI Gene database.
Entrez ID 389898
Gene name Ubiquitin conjugating enzyme E2 N like (gene/pseudogene)
Gene symbol UBE2NL
Synonyms (NCBI Gene)
Li174
Chromosome X
Chromosome location Xq27.3
Summary This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some indivi
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT048011 hsa-miR-30c-5p CLASH 23622248
MIRT1468463 hsa-miR-1231 CLIP-seq
MIRT1468464 hsa-miR-128 CLIP-seq
MIRT1468465 hsa-miR-1298 CLIP-seq
MIRT1468466 hsa-miR-205 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0005634 Component Nucleus IBA
GO:0006301 Process Postreplication repair IBA
GO:0016567 Process Protein ubiquitination IEA
GO:0061631 Function Ubiquitin conjugating enzyme activity IBA
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.
Q5JXB2
Protein name Putative ubiquitin-conjugating enzyme E2 N-like (Epididymis tissue protein Li 174)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 7 145 Ubiquitin-conjugating enzyme Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
Sequence
Sequence length 153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ubiquitin mediated proteolysis
Shigellosis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
PERIPHERAL NEUROPATHY 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
Gastroschisis Gastroschisis Pubtator 32163230 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28185054
★☆☆☆☆
Found in Text Mining only