Gene Gene information from NCBI Gene database.
Entrez ID 9898
Gene name Ubiquitin associated protein 2 like
Gene symbol UBAP2L
Synonyms (NCBI Gene)
NEDLBFNICE-4NICE4
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT032290 hsa-let-7b-5p Proteomics 18668040
MIRT052461 hsa-let-7a-5p CLASH 23622248
MIRT032290 hsa-let-7b-5p CLASH 23622248
MIRT051449 hsa-let-7e-5p CLASH 23622248
MIRT051449 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 19945174, 24981860, 25185265, 32296183, 32302570, 32353859, 33060197, 34799561, 36217030, 39251607
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616472 29877 ENSG00000143569
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14157
Protein name Ubiquitin-associated protein 2-like (Protein NICE-4) (RNA polymerase II degradation factor UBAP2L)
Protein function Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage (PubMed:35633597). Plays an impo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12478 DUF3697 495 526 Ubiquitin-associated protein 2 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11230159}.
Sequence
MMTSVGTNRARGNWEQPQNQNQTQHKQRPQATAEQIRLAQMISDHNDADFEEKVKQLIDI
TGKNQDECVIALHDCNGDVNRAINVLLEGNPDTHSWEMVGKKKGVSGQKDGGQTESNEEG
KENRDRDRDYSRRRGGPPRRGRGASRGREFRGQENGLDGTKSGGPSGRGTERGRRGRGRG
RGGSGRRGGRFSAQGMGTFNPADYAEPANTDDNYGNSSGNTWNNTGHFEPDDGTSAWRTA
TEEWGTEDWNEDLSETKIFTASNVSSVPLPAENVTITAGQRIDLAVLLGKTPSTMENDSS
NLDPSQAPSLAQPLVFSNSKQTAISQPASGNTFSHHSMVSMLGKGFGDVGEAKGGSTTGS
QFLEQFKTAQALAQLAAQHSQSGSTTTSSWDMGSTTQSPSLVQYDLKNPSDSAVHSPFTK
RQAFTPSSTMMEVFLQEKSPAVATSTAAPPPPSSPLPSKSTSAPQMSPGSSDNQSSSPQP
AQQKLKQQKKKASLTSKIPALAVEMPGSADISGLNLQFGALQFGSEPVLSDYESTPTTSA
SSSQAPSSLYTSTASESSSTISSNQSQESGYQSGPIQSTTYTSQNNAQGPLYEQRSTQTR
RYPSSISSSPQKDLTQAKNGFSSVQATQLQTTQSVEGATGSAVKSDSPSTSSIPPLNETV
SAASLLTTTNQHSSSLGGLSHSEEIPNTTTTQHSSTLSTQQNTLSSSTSSGRTSTSTLLH
TSVESEANLHSSSSTFSTTSSTVSAPPPVVSVSSSLNSGSSLGLSLGSNSTVTASTRSSV
ATTSGKAPPNLPPGVPPLLPNPYIMAPGLLHAYPPQVYGYDDLQMLQTRFPLDYYSIPFP
TPTTPLTGRDGSLASNPYSGDLTKFGRGDASSPAPATTLAQPQQNQTQTHHTTQQTFLNP
ALPPGYSYTSLPYYTGVPGLPSTFQYGPAVFPVAPTSSKQHGVNVSVNASATPFQQPSGY
GSHGYNTGVSVTSSNTGVPDISGSVYSKTQQSFEKQGFHSGTPAASFNLPSALGSGGPIN
PATAAAYPPAPFMHILTPHQQPHSQILHHHLQQDGQTGSGQRSQTSSIPQKPQTNKSAYN
SYSWGAN
Sequence length 1087
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies Pathogenic rs2524793782, rs2526619291, rs2527246387, rs2527247243 RCV003325321
RCV003325326
RCV003325327
RCV003325328
★★★★☆
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Anorexia Nervosa Associate 35013117
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 29196913
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26310274, 28334716, 28981479, 29196913, 30291221
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 27456362
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 29196913
★☆☆☆☆
Found in Text Mining only
Glioma Associate 26310274
★☆☆☆☆
Found in Text Mining only
Mental Disorders Associate 35013117
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Associate 26310274
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 28981479
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Inhibit 30291221
★☆☆☆☆
Found in Text Mining only