Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9354
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitination factor E4A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBE4A
Synonyms (NCBI Gene) Gene synonyms aliases
E4, NEDHMS, UBOX2, UFD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDHMS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1565532385 CA>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000209 Process Protein polyubiquitination IBA 21873635
GO:0005515 Function Protein binding IPI 21903422, 22119785, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603753 12499 ENSG00000110344
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
Unknown
Disease term Disease name Evidence References Source
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Lung adenocarcinoma Lung adenocarcinoma Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 29093507
Alzheimer Disease Associate 17822919, 34965472
Carcinoma Renal Cell Associate 11080474
Colorectal Neoplasms Associate 35136024
Hyperlipoproteinemias Stimulate 3705062
Infections Associate 11080474
Osteogenesis Imperfecta Type IV Stimulate 3705062
Pneumonia Lipid Associate 3705062
Prostatic Neoplasms Inhibit 27862841
Sleep Apnea Obstructive Associate 15879419