Gene Gene information from NCBI Gene database.
Entrez ID 23304
Gene name Ubiquitin protein ligase E3 component n-recognin 2
Gene symbol UBR2
Synonyms (NCBI Gene)
C6orf133bA49A4.1dJ242G1.1dJ392M17.3
Chromosome 6
Chromosome location 6p21.1
Summary This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript var
miRNA miRNA information provided by mirtarbase database.
259
miRTarBase ID miRNA Experiments Reference
MIRT017640 hsa-miR-335-5p Microarray 18185580
MIRT443294 hsa-miR-5580-3p PAR-CLIP 22100165
MIRT443294 hsa-miR-5580-3p PAR-CLIP 22100165
MIRT1471320 hsa-miR-1185 CLIP-seq
MIRT1471321 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000785 Component Chromatin IEA
GO:0005515 Function Protein binding IPI 22190034, 30455355, 32296183
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
609134 21289 ENSG00000024048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWV8
Protein name E3 ubiquitin-protein ligase UBR2 (EC 2.3.2.27) (N-recognin-2) (Ubiquitin-protein ligase E3-alpha-2) (Ubiquitin-protein ligase E3-alpha-II)
Protein function E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:20835242, PubMed:28392261). Recognizes and binds to proteins bearing specific N-terminal residues (N-degrons) that are destabilizing according to
PDB 3NY2 , 3NY3 , 5TDA , 5TDB , 5TDD , 5UM3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02207 zf-UBR 98 166 Putative zinc finger in N-recognin (UBR box) Family
PF02617 ClpS 222 301 ATP-dependent Clp protease adaptor protein ClpS Family
PF18995 PRT6_C 1308 1730 Proteolysis_6 C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). {ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:16311597}.
Sequence
MASELEPEVQAIDRSLLECSAEEIAGKWLQATDLTREVYQHLAHYVPKIYCRGPNPFPQK
EDMLAQHVLLGPMEWYLCGEDPAFGFPKLEQANKPSHLCGRVFKVGEPTYSCRDCAVDPT
CVLCMECFLGSIHRDHRYRMTTSGGGGFCDCGDTEAWKEGPYCQKH
ELNTSEIEEEEDPL
VHLSEDVIARTYNIFAITFRYAVEILTWEKESELPADLEMVEKSDTYYCMLFNDEVHTYE
QVIYTLQKAVNCTQKEAIGFATTVDRDGRRSVRYGDFQYCEQAKSVIVRNTSRQTKPLKV
Q
VMHSSIVAHQNFGLKLLSWLGSIIGYSDGLRRILCQVGLQEGPDGENSSLVDRLMLSDS
KLWKGARSVYHQLFMSSLLMDLKYKKLFAVRFAKNYQQLQRDFMEDDHERAVSVTALSVQ
FFTAPTLARMLITEENLMSIIIKTFMDHLRHRDAQGRFQFERYTALQAFKFRRVQSLILD
LKYVLISKPTEWSDELRQKFLEGFDAFLELLKCMQGMDPITRQVGQHIEMEPEWEAAFTL
QMKLTHVISMMQDWCASDEKVLIEAYKKCLAVLMQCHGGYTDGEQPITLSICGHSVETIR
YCVSQEKVSIHLPVSRLLAGLHVLLSKSEVAYKFPELLPLSELSPPMLIEHPLRCLVLCA
QVHAGMWRRNGFSLVNQIYYYHNVKCRREMFDKDVVMLQTGVSMMDPNHFLMIMLSRFEL
YQIFSTPDYGKRFSSEITHKDVVQQNNTLIEEMLYLIIMLVGERFSPGVGQVNATDEIKR
EIIHQLSIKPMAHSELVKSLPEDENKETGMESVIEAVAHFKKPGLTGRGMYELKPECAKE
FNLYFYHFSRAEQSKAEEAQRKLKRQNREDTALPPPVLPPFCPLFASLVNILQSDVMLCI
MGTILQWAVEHNGYAWSESMLQRVLHLIGMALQEEKQHLENVTEEHVVTFTFTQKISKPG
EAPKNSPSILAMLETLQNAPYLEVHKDMIRWILKTFNAVKKMRESSPTSPVAETEGTIME
ESSRDKDKAERKRKAEIARLRREKIMAQMSEMQRHFIDENKELFQQTLELDASTSAVLDH
SPVASDMTLTALGPAQTQVPEQRQFVTCILCQEEQEVKVESRAMVLAAFVQRSTVLSKNR
SKFIQDPEKYDPLFMHPDLSCGTHTSSCGHIMHAHCWQRYFDSVQAKEQRRQQRLRLHTS
YDVENGEFLCPLCECLSNTVIPLLLPPRNIFNNRLNFSDQPNLTQWIRTISQQIKALQFL
RKEESTPNNASTKNSENVDELQLPEGFRPDFRPKIPYSESIKEMLTTFGTATYKVGLKVH
PNEEDPRVPIMCWGSCAYTIQSIERILSDEDKPLFGPLPCRLDDCLRSLTRFAAAHWTVA
SVSVVQGHFCKLFASLVPNDSHEELPCILDIDMFHLLVGLVLAFPALQCQDFSGISLGTG
DLHIFHLVTMAHIIQILLTSCTEENGMDQENPPCEEESAVLALYKTLHQYTGSALKEIPS
GWHLWRSVRAGIMPFLKCSALFFHYLNGVPSPPDIQVPGTSHFEHLCSYLSLPNNLICLF
QENSEIMNSLIESWCRNSEVKRYLEGERDAIRYPRESNKLINLPEDYSSLINQASNFSCP
KSGGDKSRAPTLCLVCGSLLCSQSYCCQTELEGEDVGACTAHTYSCGSGVGIFLRVRECQ
VLFLAGKTKGCFYSPPYLDDYGETDQGLRRGNPLHLCKERFKKIQKLWHQ
HSVTEEIGHA
QEANQTLVGIDWQHL
Sequence length 1755
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY 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
Autoimmune Lymphoproliferative Syndrome Autoimmune lymphoproliferative disorder Pubtator 33288741 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia BEFREE 21573678
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 21573678, 25739334 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33288741 Stimulate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 34385509 Associate
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Liver neoplasm Pubtator 22027401 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 28895255
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 31170158 Associate
★☆☆☆☆
Found in Text Mining only
Oligospermia Oligospermia BEFREE 26940145
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 28895255
★☆☆☆☆
Found in Text Mining only