• Gene id: 23304

Gene Summary

• Gene Symbol: UBR2   Gene   UCSC   Ensembl
• Aliases: C6orf133, bA49A4.1, dJ242G1.1, dJ392M17.3
• Gene name: ubiquitin protein ligase E3 component n-recognin 2
• Alternate names: E3 ubiquitin-protein ligase UBR2, RING-type E3 ubiquitin transferase UBR2, ubiquitin-protein ligase E3-alpha-2, ubiquitin-protein ligase E3-alpha-II,
• Gene location: 6p21.1 (42563904: 42693504)     Exons: 52     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 609134

SNPs

rs16895863

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42603608A>T
NC_000006.11   g.42571346A>T
XM_005248966.3   c.-1554A>T
XR_001743284.2   n.1051A>T
XM_011514438.2   c.633A>T
NM_015255.2   c.552A>T
XM_017010595.1   c.633A>T
XM_017010596.1   c.552A>T
NM_001363705.1   c.552A>T
XM_017010594.1   c.633A>T
XR_0  

rs3749897

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42564364C>G
NC_000006.12   g.42564364C>T
NC_000006.11   g.42532102C>G
NC_000006.11   g.42532102C>T
XR_001743284.2   n.410C>G
XR_001743284.2   n.410C>T
XM_011514438.2   c.-9C>G
XM_011514438.2   c.-9C>T
NM_015255.2   c.45C>G
NM_015255.2   c.45C>T
XM_01701  

rs373341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42691014T>C
NC_000006.12   g.42691014T>G
NC_000006.11   g.42658752T>C
NC_000006.11   g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2

Protein Summary

• Protein general information: Q8IWV8  
  • Name: E3 ubiquitin protein ligase UBR2 (EC 2.3.2.27) (N recognin 2) (RING type E3 ubiquitin transferase UBR2) (Ubiquitin protein ligase E3 alpha 2) (Ubiquitin protein ligase E3 alpha II)
  • Length: 1755  
  • Mass: 200,538
• Sequence:

  MASELEPEVQAIDRSLLECSAEEIAGKWLQATDLTREVYQHLAHYVPKIYCRGPNPFPQKEDMLAQHVLLGPMEW
  YLCGEDPAFGFPKLEQANKPSHLCGRVFKVGEPTYSCRDCAVDPTCVLCMECFLGSIHRDHRYRMTTSGGGGFCD
  CGDTEAWKEGPYCQKHELNTSEIEEEEDPLVHLSEDVIARTYNIFAITFRYAVEILTWEKESELPADLEMVEKSD
  TYYCMLFNDEVHTYEQVIYTLQKAVNCTQKEAIGFATTVDRDGRRSVRYGDFQYCEQAKSVIVRNTSRQTKPLKV
  QVMHSSIVAHQNFGLKLLSWLGSIIGYSDGLRRILCQVGLQEGPDGENSSLVDRLMLSDSKLWKGARSVYHQLFM
  SSLLMDLKYKKLFAVRFAKNYQQLQRDFMEDDHERAVSVTALSVQFFTAPTLARMLITEENLMSIIIKTFMDHLR
  HRDAQGRFQFERYTALQAFKFRRVQSLILDLKYVLISKPTEWSDELRQKFLEGFDAFLELLKCMQGMDPITRQVG
  QHIEMEPEWEAAFTLQMKLTHVISMMQDWCASDEKVLIEAYKKCLAVLMQCHGGYTDGEQPITLSICGHSVETIR
  YCVSQEKVSIHLPVSRLLAGLHVLLSKSEVAYKFPELLPLSELSPPMLIEHPLRCLVLCAQVHAGMWRRNGFSLV
  NQIYYYHNVKCRREMFDKDVVMLQTGVSMMDPNHFLMIMLSRFELYQIFSTPDYGKRFSSEITHKDVVQQNNTLI
  EEMLYLIIMLVGERFSPGVGQVNATDEIKREIIHQLSIKPMAHSELVKSLPEDENKETGMESVIEAVAHFKKPGL
  TGRGMYELKPECAKEFNLYFYHFSRAEQSKAEEAQRKLKRQNREDTALPPPVLPPFCPLFASLVNILQSDVMLCI
  MGTILQWAVEHNGYAWSESMLQRVLHLIGMALQEEKQHLENVTEEHVVTFTFTQKISKPGEAPKNSPSILAMLET
  LQNAPYLEVHKDMIRWILKTFNAVKKMRESSPTSPVAETEGTIMEESSRDKDKAERKRKAEIARLRREKIMAQMS
  EMQRHFIDENKELFQQTLELDASTSAVLDHSPVASDMTLTALGPAQTQVPEQRQFVTCILCQEEQEVKVESRAMV
  LAAFVQRSTVLSKNRSKFIQDPEKYDPLFMHPDLSCGTHTSSCGHIMHAHCWQRYFDSVQAKEQRRQQRLRLHTS
  YDVENGEFLCPLCECLSNTVIPLLLPPRNIFNNRLNFSDQPNLTQWIRTISQQIKALQFLRKEESTPNNASTKNS
  ENVDELQLPEGFRPDFRPKIPYSESIKEMLTTFGTATYKVGLKVHPNEEDPRVPIMCWGSCAYTIQSIERILSDE
  DKPLFGPLPCRLDDCLRSLTRFAAAHWTVASVSVVQGHFCKLFASLVPNDSHEELPCILDIDMFHLLVGLVLAFP
  ALQCQDFSGISLGTGDLHIFHLVTMAHIIQILLTSCTEENGMDQENPPCEEESAVLALYKTLHQYTGSALKEIPS
  GWHLWRSVRAGIMPFLKCSALFFHYLNGVPSPPDIQVPGTSHFEHLCSYLSLPNNLICLFQENSEIMNSLIESWC
  RNSEVKRYLEGERDAIRYPRESNKLINLPEDYSSLINQASNFSCPKSGGDKSRAPTLCLVCGSLLCSQSYCCQTE
  LEGEDVGACTAHTYSCGSGVGIFLRVRECQVLFLAGKTKGCFYSPPYLDDYGETDQGLRRGNPLHLCKERFKKIQ
  KLWHQHSVTEEIGHAQEANQTLVGIDWQHL

• Structural information:
  • Interpro: IPR003769  IPR014719  IPR036390  IPR003126  
  • Prosite: PS51157
  • PDB: 3NY2 3NY3 5TDA 5TDB 5TDD 5UM3
  • PDBsum: 3NY2 3NY3 5TDA 5TDB 5TDD 5UM3
  • DIP: 38165
  • STRING: ENSP00000361990
• Other Databases: GeneCards:  UBR2  Malacards:  UBR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006342	chromatin silencing	ISS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0033522	histone H2A ubiquitination	ISS	biological process
GO:0033522	histone H2A ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0070728	leucine binding	IDA	molecular function
GO:0071233	cellular response to leucine	IDA	biological process
GO:0071596	ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA	biological process
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006342	chromatin silencing	IEA	biological process
GO:0006342	chromatin silencing	ISS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0030163	protein catabolic process	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0033522	histone H2A ubiquitination	IEA	biological process
GO:0033522	histone H2A ubiquitination	ISS	biological process
GO:0033522	histone H2A ubiquitination	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0070728	leucine binding	IDA	molecular function
GO:0071233	cellular response to leucine	IDA	biological process
GO:0071596	ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA	biological process
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006342	chromatin silencing	ISS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0033522	histone H2A ubiquitination	ISS	biological process
GO:0033522	histone H2A ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0070728	leucine binding	IDA	molecular function
GO:0071233	cellular response to leucine	IDA	biological process
GO:0071596	ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA	biological process

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 25739334
Azoospermia	MIK: 21573678
Meiotic arrest	MIK: 21573678
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 21573678
Meiotic arrest	MIK: 21573678
Cryptorchidism	MIK: 21412036
Oligospermia	MIK: 26940145
Male infertility	MIK: 26940145
Mediates transcriptional silencing during spermatogenesis via histone ubiquitination	MIK: 20080676
Non-obstructive azoospermia	MIK: 28718531
Plays a role in spermatogenesis	MIK: 21103378
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25739334	Non-obstructive azoospermia			1466 (757 NOA patients, 709 fertile males)	Male infertility	BRWD1 DNMT1 DNMT3B RNF17 UBR2 USP1 USP26 BRDT and MTHFR
21573678	Azoospermia, meiotic arrest	UBR2 (c.1,066A>T)		110 (30 patients with azoospermia by meiotic arrest, 80 normal controls)	Male infertility	UBR2
21103378	Plays a role in spermatogenesis				Male infertility	UBR2 Tex19.1
20080676	Mediates transcriptional silencing during spermatogenesis via histone ubiquitination				Male infertility
26940145	Idiopathic aspermia or oligospermia, Male infertility	rs16895863, rs373341, rs3749897	Chinese	465 ( 149 fertile and 316 infertile men, including 244 patients with idiopathic aspermia and 72 patients with severe oligospermia)	Male infertility
28718531	Non-obstructive azoospermia	c.C544A, p.(His182Asn)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq