EGR2
entrez
1959
canonical
uniprot
P11161
canonical
ensembl
ENSG00000122877
resolver
ensp
ENSP00000242480
resolver
ensp
ENSP00000387634
resolver
ensp
ENSP00000490154
resolver
ensp
ENSP00000509830
resolver
enst
ENST00000691610
resolver
genesymbol
EGR2
resolver
genesymbol_syn
KROX20
resolver
hgnc
HGNC:3239
resolver
uniprot
A0A8I5KYI5
resolver
uniprot
B2R724
resolver
uniprot
B3KRD7
resolver
uniprot
Q68CZ5
resolver
uniprot
Q8IV26
resolver
uniprot
Q9UNA6
resolver
uniprot_entry
A0A8I5KYI5_HUMAN
resolver
uniprot_entry
EGR2_HUMAN
resolver
uniprot_sec
B2R724
resolver
uniprot_sec
B3KRD7
resolver
uniprot_sec
Q68CZ5
resolver
uniprot_sec
Q8IV26
resolver
uniprot_sec
Q9UNA6
resolver
amino_acid_sequence
MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAELGGPFDQMNGVAGDGMINIDMTGEKRSLDLPYPSSFAPVSAPRNQTFTYMGKFSIDPQYPGASCYPEGIINIVSAGILQGVTSPASTTASSSVTSASPNPLATGPLGVCTMSQTQPDLDHLYSPPPPPPPYSGCAGDLYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPGLFPMIPDYPGFFPSQCQRDLHGTAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGGSEGPRLPGSSSAAAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTPVHERPYPCPAEGCDRRFSRSDELTRHIRIHTGHKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFACDYCGRKFARSDERKRHTKIHLRQKERKSSAPSASVPAPSTASCSGGVQPGGTLCSSNSSSLGGGPLAPCSSRTRTP
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1) [MIM:605253]: A 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. {ECO:0000269|PubMed:17717711, ECO:0000269|PubMed:22522483, ECO:0000269|PubMed:9537424}. Note=The disease is caused by variants 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). {ECO:0000269|PubMed:22522483}.; DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 1D (CMT1D) [MIM:607678]: A 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. {ECO:0000269|PubMed:10502832, ECO:0000269|PubMed:10762521, ECO:0000269|PubMed:11239949, ECO:0000269|PubMed:12736090, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:15947997, ECO:0000269|PubMed:17717711, ECO:0000269|PubMed:22546699, ECO:0000269|PubMed:22734907, ECO:0000269|PubMed:30843326, ECO:0000269|PubMed:9537424, ECO:0000269|Ref.14}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A 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. {ECO:0000269|PubMed:10371530, ECO:0000269|PubMed:17717711, ECO:0000269|PubMed:31852952}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.-
uniprot
proteins
function
FUNCTION: Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity). {ECO:0000250|UniProtKB:P08152, ECO:0000269|PubMed:17717711}.; FUNCTION: E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity. {ECO:0000269|PubMed:21836637}.
uniprot
proteins
mass_dalton
50302
uniprot
proteins
mutagenesis
MUTAGEN 162..165; /note="DHLY->AAAA: Inhibits association with HCFC1."; /evidence="ECO:0000269|PubMed:14532282
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein sumoylation.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by WWP2 leading to proteasomal degradation. {ECO:0000250|UniProtKB:P08152}.; PTM: Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1. {ECO:0000250|UniProtKB:P08152}.
uniprot
proteins
protein_family
EGR C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10371530
uniprot
proteins
pubmed
10502832
uniprot
proteins
pubmed
10762521
uniprot
proteins
pubmed
11239949
uniprot
proteins
pubmed
12736090
uniprot
proteins
pubmed
14532282
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15241803
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15947997
uniprot
proteins
pubmed
17717711
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19651900
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
2111009
uniprot
proteins
pubmed
21836637
uniprot
proteins
pubmed
22522483
uniprot
proteins
pubmed
22546699
uniprot
proteins
pubmed
22734907
uniprot
proteins
pubmed
30843326
uniprot
proteins
pubmed
3140236
uniprot
proteins
pubmed
31852952
uniprot
proteins
pubmed
9537424
uniprot
proteins
sequence_length
476
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P08152}.
uniprot
proteins