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Protein

E3 SUMO-protein ligase EGR2

Gene

EGR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Ligase

Keywords - Biological processi

Transcription, Transcription regulation, Ubl conjugation pathway

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122877-MONOMER.
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:6.3.2.-)
Alternative name(s):
AT591
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:3239. EGR2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs104894158dbSNPEnsembl.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_009874359R → W in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl. 3 PublicationsCorresponds to variant rs104894161dbSNPEnsembl.1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant rs281865137dbSNPEnsembl.1
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant rs104894160dbSNPEnsembl.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant rs104894159dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs104894161dbSNPEnsembl.1

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.
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.

PTM databases

iPTMnetiP11161.
PhosphoSitePlusiP11161.

Expressioni

Gene expression databases

BgeeiENSG00000122877.
CleanExiHS_EGR2.

Organism-specific databases

HPAiCAB016793.

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108279. 17 interactors.
IntActiP11161. 10 interactors.
MINTiMINT-234172.
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

Contains 3 C2H2-type zinc fingers.PROSITE-ProRule annotation

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.
OMAiNPEGVIN.
OrthoDBiEOG091G06VX.
PhylomeDBiP11161.
TreeFamiTF318980.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR021849. DUF3446.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF11928. DUF3446. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]

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 rs104894158dbSNPEnsembl.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 rs104894161dbSNPEnsembl.1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant rs281865137dbSNPEnsembl.1
Natural variantiVAR_007737382 – 383SD → RY in CHN. 2
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant rs104894160dbSNPEnsembl.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant rs104894159dbSNPEnsembl.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. Translation: CAH73827.2.
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

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

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. Translation: CAH73827.2.
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.

3D structure databases

ProteinModelPortaliP11161.
SMRiP11161.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108279. 17 interactors.
IntActiP11161. 10 interactors.
MINTiMINT-234172.
STRINGi9606.ENSP00000242480.

PTM databases

iPTMnetiP11161.
PhosphoSitePlusiP11161.

Polymorphism and mutation databases

BioMutaiEGR2.
DMDMi33112654.

Proteomic databases

PaxDbiP11161.
PeptideAtlasiP11161.
PRIDEiP11161.

Protocols and materials databases

DNASUi1959.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi1959.
DisGeNETi1959.
GeneCardsiEGR2.
GeneReviewsiEGR2.
HGNCiHGNC:3239. EGR2.
HPAiCAB016793.
MalaCardsiEGR2.
MIMi129010. gene.
145900. phenotype.
605253. phenotype.
607678. phenotype.
neXtProtiNX_P11161.
OpenTargetsiENSG00000122877.
Orphaneti101084. Charcot-Marie-Tooth disease type 1D.
99951. Charcot-Marie-Tooth disease type 4E.
64748. Dejerine-Sottas syndrome.
PharmGKBiPA27674.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00886.
BioCyciZFISH:ENSG00000122877-MONOMER.
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.

Miscellaneous databases

GeneWikiiEGR2.
GenomeRNAii1959.
PROiP11161.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122877.
CleanExiHS_EGR2.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR021849. DUF3446.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF11928. DUF3446. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEGR2_HUMAN
AccessioniPrimary (citable) accession number: P11161
Secondary accession number(s): B2R724
, B3KRD7, Q68CZ5, Q8IV26, Q9UNA6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 19, 2003
Last modified: November 2, 2016
This is version 182 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.