• Gene id: 1959

Gene Summary

• Gene Symbol: EGR2   Gene   UCSC   Ensembl
• Aliases: AT591, CHN1, CMT1D, CMT4E, KROX20
• Gene name: early growth response 2
• Alternate names: E3 SUMO-protein ligase EGR2, E3 SUMO-protein transferase ERG2, KROX-20, Drosophila, homolog (early growth response-2), early growth response protein 2, zinc finger protein Krox-20,
• Gene location: 10q21.3 (62819166: 62811995)     Exons: 5     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sotta
• OMIM: 129010

Protein Summary

• Protein general information: P11161  
  • Name: E3 SUMO protein ligase EGR2 (EC 2.3.2. ) (AT591) (E3 SUMO protein transferase ERG2) (Early growth response protein 2) (EGR 2) (Zinc finger protein Krox 20)
  • Length: 476  
  • Mass: 50302
• Sequence:

  MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAELGGPFDQMNGVAGDGMINIDMTGEKRSLDLPY
  PSSFAPVSAPRNQTFTYMGKFSIDPQYPGASCYPEGIINIVSAGILQGVTSPASTTASSSVTSASPNPLATGPLG
  VCTMSQTQPDLDHLYSPPPPPPPYSGCAGDLYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPGLFPMIPD
  YPGFFPSQCQRDLHGTAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGGSEGPRLPGSSSA
  AAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTPVHERPYPCPAEGCDRRFSRSDELTRHIRIHTGHKPFQCRIC
  MRNFSRSDHLTTHIRTHTGEKPFACDYCGRKFARSDERKRHTKIHLRQKERKSSAPSASVPAPSTASCSGGVQPG
  GTLCSSNSSSLGGGPLAPCSSRTRTP

• Structural information:
  • Interpro: IPR021849  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000242480
• Other Databases: GeneCards:  EGR2  Malacards:  EGR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061665	SUMO ligase activity	ISS	molecular function
GO:0016925	protein sumoylation	ISS	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006611	protein export from nucleus	ISS	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007420	brain development	TAS	biological process
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0061665	SUMO ligase activity	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042552	myelination	IEA	biological process
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0021666	rhombomere 5 formation	IEA	biological process
GO:0021660	rhombomere 3 formation	IEA	biological process
GO:0021659	rhombomere 3 structural organization	IEA	biological process
GO:0021569	rhombomere 3 development	IEA	biological process
GO:0014040	positive regulation of Schwann cell differentiation	IEA	biological process
GO:0006611	protein export from nucleus	IEA	biological process
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0035284	brain segmentation	IEA	biological process
GO:0021665	rhombomere 5 structural organization	IEA	biological process
GO:0021612	facial nerve structural organization	IEA	biological process
GO:0016925	protein sumoylation	IEA	biological process
GO:0014037	Schwann cell differentiation	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0007622	rhythmic behavior	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0045444	fat cell differentiation	ISS	biological process
GO:0005634	nucleus	IC	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0014040	positive regulation of Schwann cell differentiation	ISS	biological process
GO:0031643	positive regulation of myelination	ISS	biological process
GO:0021659	rhombomere 3 structural organization	ISS	biological process
GO:0021612	facial nerve structural organization	ISS	biological process
GO:0021665	rhombomere 5 structural organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035914	skeletal muscle cell differentiation	ISS	biological process
GO:0014037	Schwann cell differentiation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa05161	Hepatitis B
hsa04625	C-type lectin receptor signaling pathway

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Congenital hypomyelinating neuropathy	KEGG:H02357
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Congenital hypomyelinating neuropathy	KEGG:H02357
Motor peripheral neuropathy	PMID:12970165
Motor peripheral neuropathy	PMID:10369870
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq