EGR2

Protein identityUniProt · HPA

UniProt accession

P11161

Gene

EGR2

Ensembl

ENSG00000122877

Chromosome

10

Canonical length

476 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>P11161|EGR2
     1  MMTAKAVDKI PVTLSGFVHQ LSDNIYPVED LAATSVTIFP NAELGGPFDQ MNGVAGDGMI
    61  NIDMTGEKRS LDLPYPSSFA PVSAPRNQTF TYMGKFSIDP QYPGASCYPE GIINIVSAGI
   121  LQGVTSPAST TASSSVTSAS PNPLATGPLG VCTMSQTQPD LDHLYSPPPP PPPYSGCAGD
   181  LYQDPSAFLS AATTSTSSSL AYPPPPSYPS PKPATDPGLF PMIPDYPGFF PSQCQRDLHG
   241  TAGPDRKPFP CPLDTLRVPP PLTPLSTIRN FTLGGPSAGV TGPGASGGSE GPRLPGSSSA
   301  AAAAAAAAAY NPHHLPLRPI LRPRKYPNRP SKTPVHERPY PCPAEGCDRR FSRSDELTRH
   361  IRIHTGHKPF QCRICMRNFS RSDHLTTHIR THTGEKPFAC DYCGRKFARS DERKRHTKIH
   421  LRQKERKSSA PSASVPAPST ASCSGGVQPG GTLCSSNSSS LGGGPLAPCS SRTRTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EGR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.68

Highest tissue expression

115 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EGR2.

Disease | AllUniProt

Conditions EGR2 is implicated in, by any mechanism.

• Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1) MIM:605253
• Charcot-Marie-Tooth disease, demyelinating, type 1D (CMT1D) MIM:607678
• Dejerine-Sottas syndrome (DSS) MIM:145900

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 463 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease, type I
• Charcot-Marie-Tooth disease type 1D
• Dejerine-Sottas disease
• Charcot-Marie-Tooth disease
• Dejerine-sottas neuropathy, autosomal dominant

Disease | ImmuneIEDB

Conditions an epitope on EGR2 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.6

gnomAD pLI

0.5

gnomAD missense Z

2.44

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta development
• brain development
• brain segmentation
• facial nerve structural organization
• fat cell differentiation
• gene expression
• motor neuron axon guidance
• myelination
• peripheral nervous system development
• positive regulation of DNA-templated transcription
• positive regulation of myelination
• positive regulation of Schwann cell differentiation
• positive regulation of transcription by RNA polymerase II
• protein export from nucleus
• protein sumoylation
• regulation of ossification
• regulation of transcription by RNA polymerase II
• rhythmic behavior
• Schwann cell differentiation
• skeletal muscle cell differentiation
• rhombomere 3 formation
• rhombomere 3 structural organization
• rhombomere 5 formation
• rhombomere 5 structural organization

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• SUMO ligase activity
• transcription cis-regulatory region binding
• ubiquitin protein ligase binding
• zinc ion binding

Cellular components

• chromatin
• cytoplasm
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Early growth response, N-terminal
• Zinc finger C2H2 superfamily
• Zinc finger, C2H2 type
• Early growth response N-terminal domain

KeywordsUniProt

• Acetylation
• Activator
• Charcot-Marie-Tooth disease
• Dejerine-Sottas syndrome
• DNA-binding
• Metal-binding
• Neurodegeneration
• Neuropathy
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Transferase
• Ubl conjugation
• Ubl conjugation pathway
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of EGR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CITED1
• HCFC1
• UBC9
• WWP2