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UniProtKB - P11161 (EGR2_HUMAN)

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Protein

E3 SUMO-protein ligase EGR2

Gene

EGR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.1 Publication
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.1 Publication

Pathwayi: protein sumoylation

This protein is involved in the pathway protein sumoylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein sumoylation and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri340 – 364C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri370 – 392C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri398 – 420C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding, Transferase
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SignaLinkiP11161
SIGNORiP11161
UniPathwayiUPA00886

Names & Taxonomyi

Protein namesi
Recommended name:
E3 SUMO-protein ligase EGR2 (EC:2.3.2.-)
Alternative name(s):
AT591
E3 SUMO-protein transferase ERG2Curated
Early growth response protein 2
Short name:
EGR-2
Zinc finger protein Krox-20
Gene namesi
Name:EGR2
Synonyms:KROX20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000122877.13
HGNCiHGNC:3239 EGR2
MIMi129010 gene
neXtProtiNX_P11161

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuropathy, congenital hypomyelinating or amyelinating (CHN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (PubMed:22522483).1 Publication
Disease descriptionA severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive.
See also OMIM:605253
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007735268I → N in CHN. 1 PublicationCorresponds to variant dbSNP:rs104894158EnsemblClinVar.1
Natural variantiVAR_007737382 – 383SD → RY in CHN. 2
Charcot-Marie-Tooth disease 1D (CMT1D)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
See also OMIM:607678
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007736355D → V in CMT1D. 2 Publications1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs281865137EnsemblClinVar.1
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894160EnsemblClinVar.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894159EnsemblClinVar.1
Dejerine-Sottas syndrome (DSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
See also OMIM:145900

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi162 – 165DHLY → AAAA: Inhibits association with HCFC1. 1 Publication4

Keywords - Diseasei

Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi1959
GeneReviewsiEGR2
MalaCardsiEGR2
MIMi145900 phenotype
605253 phenotype
607678 phenotype
OpenTargetsiENSG00000122877
Orphaneti101084 Charcot-Marie-Tooth disease type 1D
99951 Charcot-Marie-Tooth disease type 4E
64748 Dejerine-Sottas syndrome
PharmGKBiPA27674

Polymorphism and mutation databases

BioMutaiEGR2
DMDMi33112654

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000471191 – 476E3 SUMO-protein ligase EGR2Add BLAST476

Post-translational modificationi

Ubiquitinated by WWP2 leading to proteasomal degradation.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiP11161
PeptideAtlasiP11161
PRIDEiP11161
ProteomicsDBi52701
52702 [P11161-2]

PTM databases

iPTMnetiP11161
PhosphoSitePlusiP11161

Expressioni

Gene expression databases

BgeeiENSG00000122877
CleanExiHS_EGR2
ExpressionAtlasiP11161 baseline and differential

Organism-specific databases

HPAiHPA031165

Interactioni

Subunit structurei

Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9.3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108279, 17 interactors
IntActiP11161, 10 interactors
MINTiP11161
STRINGi9606.ENSP00000242480

Structurei

3D structure databases

ProteinModelPortaliP11161
SMRiP11161
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi162 – 165HCFC1-binding-motif (HBM)4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi300 – 309Poly-Ala10

Sequence similaritiesi

Belongs to the EGR C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri340 – 364C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri370 – 392C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri398 – 420C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00550000074455
HOGENOMiHOG000036856
HOVERGENiHBG003909
InParanoidiP11161
KOiK12496
OMAiFPPQCQR
OrthoDBiEOG091G06VX
PhylomeDBiP11161
TreeFamiTF318980

Family and domain databases

InterProiView protein in InterPro
IPR021849 EGR
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF11928 DUF3446, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: P11161-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MMTAKAVDKI PVTLSGFVHQ LSDNIYPVED LAATSVTIFP NAELGGPFDQ 
        60         70         80         90        100
MNGVAGDGMI NIDMTGEKRS LDLPYPSSFA PVSAPRNQTF TYMGKFSIDP 
       110        120        130        140        150
QYPGASCYPE GIINIVSAGI LQGVTSPAST TASSSVTSAS PNPLATGPLG 
       160        170        180        190        200
VCTMSQTQPD LDHLYSPPPP PPPYSGCAGD LYQDPSAFLS AATTSTSSSL 
       210        220        230        240        250
AYPPPPSYPS PKPATDPGLF PMIPDYPGFF PSQCQRDLHG TAGPDRKPFP 
       260        270        280        290        300
CPLDTLRVPP PLTPLSTIRN FTLGGPSAGV TGPGASGGSE GPRLPGSSSA 
       310        320        330        340        350
AAAAAAAAAY NPHHLPLRPI LRPRKYPNRP SKTPVHERPY PCPAEGCDRR 
       360        370        380        390        400
FSRSDELTRH IRIHTGHKPF QCRICMRNFS RSDHLTTHIR THTGEKPFAC 
       410        420        430        440        450
DYCGRKFARS DERKRHTKIH LRQKERKSSA PSASVPAPST ASCSGGVQPG 
       460        470 
GTLCSSNSSS LGGGPLAPCS SRTRTP
Length:476
Mass (Da):50,302
Last modified:July 19, 2003 - v3
Checksum:i7810D1B1B418DF1F
GO
Isoform Short (identifier: P11161-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Note: No experimental confirmation available.
Show »
Length:426
Mass (Da):44,970
Checksum:iDD358E32D00B4353
GO

Sequence cautioni

The sequence AAA52372 differs from that shown. Reason: Frameshift at position 449.Curated
The sequence AAA52372 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti68K → R in CAH18435 (PubMed:17974005).Curated1
Sequence conflicti247K → KPFPCPLDTLRVPPPLTPLS TIRK in AAH35625 (PubMed:15489334).Curated1
Sequence conflicti280V → M in AAA52372 (PubMed:3140236).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007735268I → N in CHN. 1 PublicationCorresponds to variant dbSNP:rs104894158EnsemblClinVar.1
Natural variantiVAR_007736355D → V in CMT1D. 2 Publications1
Natural variantiVAR_009874359R → W in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl. 3 PublicationsCorresponds to variant dbSNP:rs104894161EnsemblClinVar.1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs281865137EnsemblClinVar.1
Natural variantiVAR_007737382 – 383SD → RY in CHN. 2
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894160EnsemblClinVar.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894159EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0068631 – 50Missing in isoform Short. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04076 mRNA Translation: AAA52372.1 Sequence problems.
AF139463 mRNA Translation: AAD24588.1
AK091399 mRNA Translation: BAG52349.1
AK312813 mRNA Translation: BAG35671.1
CR749641 mRNA Translation: CAH18435.1
AL133417 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54238.1
CH471083 Genomic DNA Translation: EAW54239.1
BC035625 mRNA Translation: AAH35625.1
X53700 Genomic DNA No translation available.
CCDSiCCDS44409.1 [P11161-2]
CCDS7267.1 [P11161-1]
RefSeqiNP_000390.2, NM_000399.4 [P11161-1]
NP_001129649.1, NM_001136177.2 [P11161-1]
NP_001129650.1, NM_001136178.1 [P11161-1]
NP_001129651.1, NM_001136179.2 [P11161-2]
NP_001307966.1, NM_001321037.1 [P11161-2]
UniGeneiHs.1395

Genome annotation databases

EnsembliENST00000242480; ENSP00000242480; ENSG00000122877 [P11161-1]
ENST00000411732; ENSP00000387634; ENSG00000122877 [P11161-2]
ENST00000439032; ENSP00000402040; ENSG00000122877 [P11161-1]
GeneIDi1959
KEGGihsa:1959
UCSCiuc001jmi.4 human [P11161-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEGR2_HUMAN
AccessioniPrimary (citable) accession number: P11161
Secondary accession number(s): B2R724
, B3KRD7, Q68CZ5, Q8IV26, Q9UNA6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 19, 2003
Last modified: June 20, 2018
This is version 197 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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