Human Gene EGR2 (ENST00000242480.4_13) from GENCODE V47lift37
  Description: early growth response 2, transcript variant 1 (from RefSeq NM_000399.5)
Gencode Transcript: ENST00000242480.4_13
Gencode Gene: ENSG00000122877.18_17
Transcript (Including UTRs)
   Position: hg19 chr10:64,571,756-64,576,126 Size: 4,371 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr10:64,572,967-64,575,789 Size: 2,823 Coding Exon Count: 2 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:64,571,756-64,576,126)mRNA (may differ from genome)Protein (476 aa)
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EGR2_HUMAN
DESCRIPTION: RecName: Full=E3 SUMO-protein ligase EGR2; EC=6.3.2.-; AltName: Full=AT591; AltName: Full=Early growth response protein 2; Short=EGR-2; AltName: Full=Zinc finger protein Krox-20;
FUNCTION: Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.
FUNCTION: E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.
PATHWAY: Protein modification; protein sumoylation.
SUBUNIT: Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9.
SUBCELLULAR LOCATION: Nucleus.
PTM: Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity).
DISEASE: Defects in EGR2 are a cause of congenital hypomyelination neuropathy (CHN) [MIM:605253]. Inheritance can be autosomal dominant or recessive. Recessive CHN is also known as Charcot- Marie-Tooth disease type 4E (CMT4E). CHN is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities.
DISEASE: Defects in EGR2 are a cause of Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]. CMT1D is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group 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.
DISEASE: Defects in EGR2 are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is 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.
SIMILARITY: Belongs to the EGR C2H2-type zinc-finger protein family.
SIMILARITY: Contains 3 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=AAA52372.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA52372.1; Type=Frameshift; Positions=449;
WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EGR2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EGR2
Diseases sorted by gene-association score: neuropathy, congenital hypomyelinating* (1796), charcot-marie-tooth disease, type 1d* (1687), dejerine-sottas disease* (912), charcot-marie-tooth disease, type 1e* (241), charcot-marie-tooth neuropathy type 1* (209), congenital hypomyelination neuropathy* (151), tooth disease (29), charcot-marie-tooth disease (17), neuropathy, hereditary motor and sensory, russe type (7), neuropathy, recurrent, with pressure palsies (7), neuropathy (7), charcot-marie-tooth disease, type 1b (7), cauda equina syndrome (6), charcot-marie-tooth disease, type 1c (6), charcot-marie-tooth disease, type 1a (6), charcot-marie-tooth disease, type 2b (5), charcot-marie-tooth disease, type 2e (4), wilms tumor susceptibility-5 (2), peripheral nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.10 RPKM in Nerve - Tibial
Total median expression: 99.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.47337-0.301 Picture PostScript Text
3' UTR -364.101211-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021849 - DUF3446
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF11928 - Early growth response N-terminal domain
PF13913 - zinc-finger of a C2HC-type

SCOP Domains:
57667 - beta-beta-alpha zinc fingers
57783 - Zinc beta-ribbon
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on P11161
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0031625 ubiquitin protein ligase binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0071837 HMG box domain binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006611 protein export from nucleus
GO:0007420 brain development
GO:0007422 peripheral nervous system development
GO:0007611 learning or memory
GO:0007622 rhythmic behavior
GO:0008045 motor neuron axon guidance
GO:0014037 Schwann cell differentiation
GO:0016925 protein sumoylation
GO:0021569 rhombomere 3 development
GO:0021612 facial nerve structural organization
GO:0021660 rhombomere 3 formation
GO:0021666 rhombomere 5 formation
GO:0030278 regulation of ossification
GO:0032868 response to insulin
GO:0035284 brain segmentation
GO:0035914 skeletal muscle cell differentiation
GO:0042552 myelination
GO:0045444 fat cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048168 regulation of neuronal synaptic plasticity
GO:0071310 cellular response to organic substance

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  LF208780 - JP 2014500723-A/16283: Polycomb-Associated Non-Coding RNAs.
BC035625 - Homo sapiens early growth response 2 (Krox-20 homolog, Drosophila), mRNA (cDNA clone MGC:45038 IMAGE:5208710), complete cds.
FW340001 - Screening.
CR749641 - Homo sapiens mRNA; cDNA DKFZp686J1957 (from clone DKFZp686J1957).
LF213970 - JP 2014500723-A/21473: Polycomb-Associated Non-Coding RNAs.
J04076 - Human early growth response 2 protein (EGR2) mRNA, complete cds.
AK091399 - Homo sapiens cDNA FLJ34080 fis, clone FCBBF3004021, highly similar to EARLY GROWTH RESPONSE PROTEIN 2.
JD566428 - Sequence 547452 from Patent EP1572962.
JD497321 - Sequence 478345 from Patent EP1572962.
JD195624 - Sequence 176648 from Patent EP1572962.
JD490513 - Sequence 471537 from Patent EP1572962.
JD275789 - Sequence 256813 from Patent EP1572962.
AF139463 - Homo sapiens early growth response 2 protein (EGR2) mRNA, complete cds.
JD555935 - Sequence 536959 from Patent EP1572962.
JD303423 - Sequence 284447 from Patent EP1572962.
JD457905 - Sequence 438929 from Patent EP1572962.
JD371470 - Sequence 352494 from Patent EP1572962.
JD199756 - Sequence 180780 from Patent EP1572962.
AK312813 - Homo sapiens cDNA, FLJ93244, Homo sapiens early growth response 2 (Krox-20 homolog, Drosophila)(EGR2), mRNA.
KJ901404 - Synthetic construct Homo sapiens clone ccsbBroadEn_10798 EGR2 gene, encodes complete protein.
KR710863 - Synthetic construct Homo sapiens clone CCSBHm_00017701 EGR2 (EGR2) mRNA, encodes complete protein.
KR710864 - Synthetic construct Homo sapiens clone CCSBHm_00017706 EGR2 (EGR2) mRNA, encodes complete protein.
KR710865 - Synthetic construct Homo sapiens clone CCSBHm_00017709 EGR2 (EGR2) mRNA, encodes complete protein.
AB464513 - Synthetic construct DNA, clone: pF1KB7045, Homo sapiens EGR2 gene for early growth response 2, without stop codon, in Flexi system.
KU178040 - Homo sapiens early growth response 2 isoform 1 (EGR2) mRNA, partial cds, alternatively spliced.
KU178041 - Homo sapiens early growth response 2 isoform 3 (EGR2) mRNA, partial cds, alternatively spliced.
AK296830 - Homo sapiens cDNA FLJ54816 complete cds, highly similar to Early growth response protein 2.
CU690136 - Synthetic construct Homo sapiens gateway clone IMAGE:100019686 5' read EGR2 mRNA.
JD317504 - Sequence 298528 from Patent EP1572962.
JD187227 - Sequence 168251 from Patent EP1572962.
JD187226 - Sequence 168250 from Patent EP1572962.
JD404652 - Sequence 385676 from Patent EP1572962.
JD461122 - Sequence 442146 from Patent EP1572962.
LF322762 - JP 2014500723-A/130265: Polycomb-Associated Non-Coding RNAs.
CQ873818 - Sequence 237 from Patent WO2004076622.
DD413655 - Regulation of Mammalian Cells.
LF212340 - JP 2014500723-A/19843: Polycomb-Associated Non-Coding RNAs.
LF213188 - JP 2014500723-A/20691: Polycomb-Associated Non-Coding RNAs.
JD379166 - Sequence 360190 from Patent EP1572962.
JD282633 - Sequence 263657 from Patent EP1572962.
JD098008 - Sequence 79032 from Patent EP1572962.
JD252355 - Sequence 233379 from Patent EP1572962.
JD067190 - Sequence 48214 from Patent EP1572962.
JD101181 - Sequence 82205 from Patent EP1572962.
MA449547 - JP 2018138019-A/21473: Polycomb-Associated Non-Coding RNAs.
MA558339 - JP 2018138019-A/130265: Polycomb-Associated Non-Coding RNAs.
MA444357 - JP 2018138019-A/16283: Polycomb-Associated Non-Coding RNAs.
MA447917 - JP 2018138019-A/19843: Polycomb-Associated Non-Coding RNAs.
MA448765 - JP 2018138019-A/20691: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_vipPathway - Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells

Reactome (by CSHL, EBI, and GO)

Protein P11161 (Reactome details) participates in the following event(s):

R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5619507 Activation of HOX genes during differentiation
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B2R724, B3KRD7, EGR2_HUMAN, ENST00000242480.1, ENST00000242480.2, ENST00000242480.3, KROX20, NM_000399, P11161, Q68CZ5, Q8IV26, Q9UNA6, uc317ekh.1, uc317ekh.2
UCSC ID: ENST00000242480.4_13
RefSeq Accession: NM_000399.5
Protein: P11161 (aka EGR2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EGR2:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.