Gene Gene information from NCBI Gene database.
Entrez ID 9354
Gene name Ubiquitination factor E4A
Gene symbol UBE4A
Synonyms (NCBI Gene)
E4NEDHMSUBOX2UFD2
Chromosome 11
Chromosome location 11q23.3
Summary This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1565532385 CA>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
681
miRTarBase ID miRNA Experiments Reference
MIRT001399 hsa-miR-16-5p pSILAC 18668040
MIRT001399 hsa-miR-16-5p Proteomics;Other 18668040
MIRT050796 hsa-miR-17-5p CLASH 23622248
MIRT464637 hsa-miR-514a-5p PAR-CLIP 23592263
MIRT464636 hsa-miR-326 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000151 Component Ubiquitin ligase complex TAS 10089879
GO:0000209 Process Protein polyubiquitination IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 21903422, 22119785, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603753 12499 ENSG00000110344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14139
Protein name Ubiquitin conjugation factor E4 A (EC 2.3.2.27) (RING-type E3 ubiquitin transferase E4 A)
Protein function Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin
PDB 1WGM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10408 Ufd2P_core 330 972 Ubiquitin elongating factor core Family
PF04564 U-box 988 1060 U-box domain Domain
Sequence
MTDQENNNNISSNPFAALFGSLADAKQFAAIQKEQLKQQSDELPASPDDSDNSVSESLDE
FDYSVAEISRSFRSQQEICEQLNINHMIQRIFLITLDNSDPSLKSGNGIPSRCVYLEEMA
VELEDQDWLDMSNVEQALFARLLLQDPGNHLINMTSSTTLNLSADRDAGERHIFCYLYSC
FQRAKEEITKVPENLLPFAVQCRNLTVSNTRTVLLTPEIYVDQNIHEQLVDLMLEAIQGA
HFEDVTEFLEEVIEALILDEEVRTFPEVMIPVFDILLGRIKDLELCQILLYAYLDILLYF
TRQKDMAKVFVEYIQPKDPTNGQMYQKTLLGVILSISCLLKTPGVVENHGYFLNPSRSSP
QEIKVQEANIHQFMAQFHEKIYQMLKNLLQLSPETKHCILSWLGNCLHANAGRTKIWANQ
MPEIFFQMYASDAFFLNLGAALLKLCQPFCKPRSSRLLTFNPTYCALKELNDEERKIKNV
HMRGLDKETCLIPAVQEPKFPQNYNLVTENLALTEYTLYLGFHRLHDQMVKINQNLHRLQ
VAWRDAQQSSSPAADNLREQFERLMTIYLSTKTAMTEPQMLQNCLNLQVSMAVLLVQLAI
GNEGSQPIELTFPLPDGYSSLAYVPEFFADNLGDFLIFLRRFADDILETSADSLEHVLHF
ITIFTGSIERMKNPHLRAKLAEVLEAVMPHLDQTPNPLVSSVFHRKRVFCNFQYAPQLAE
ALIKVFVDIEFTGDPHQFEQKFNYRRPMYPILRYMWGTDTYRESIKDLADYASKNLEAMN
PPLFLRFLNLLMNDAIFLLDEAIQYLSKIKIQQIEKDRGEWDSLTPEARREKEAGLQMFG
QLARFHNIMSNETIGTLAFLTSEIKSLFVHPFLAERIISMLNYFLQHLVGPKMGALKVKD
FSEFDFKPQQLVSDICTIYLNLGDEENFCATVPKDGRSYSPTLFAQTVRVLKKINKPGNM
IMAFSNLAERIK
SLADLQQQEEETYADACDEFLDPIMSTLMCDPVVLPSSRVTVDRSTIA
RHLLSDQTDPFNRSPLTMDQIRPNTELKEKIQRWLAERKQ
QKEQLE
Sequence length 1066
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Antigen processing: Ubiquitination & Proteasome degradation
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 Likely pathogenic rs2496959742 RCV002789993
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia and gross motor and speech delay Pathogenic; Likely pathogenic rs2134089305, rs748926976, rs2496943725, rs1565532385 RCV001787244
RCV001787245
RCV003233439
RCV001787106
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBE4A-related disorder Pathogenic rs2134092709 RCV001808204
★★★★☆
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
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 17822919, 34965472 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 11080474 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35136024 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 18069675
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 30663414
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Hyperlipoproteinemias Hyperlipoproteinemia Pubtator 3705062 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 27862841
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of thyroid Thyroid cancer BEFREE 28963376
★☆☆☆☆
Found in Text Mining only