{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P11161","secondaryAccessions":["B2R724","B3KRD7","Q68CZ5","Q8IV26","Q9UNA6"],"uniProtkbId":"EGR2_HUMAN","entryAudit":{"firstPublicDate":"1989-07-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2003-07-19","entryVersion":240,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"E3 SUMO-protein ligase EGR2"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21836637"}],"value":"2.3.2.-"}]},"alternativeNames":[{"fullName":{"value":"AT591"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"E3 SUMO-protein transferase ERG2"}},{"fullName":{"value":"Early growth response protein 2"},"shortNames":[{"value":"EGR-2"}]},{"fullName":{"value":"Zinc finger protein Krox-20"}}]},"genes":[{"geneName":{"value":"EGR2"},"synonyms":[{"value":"KROX20"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08152"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17717711"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21836637"}],"value":"E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity"}],"commentType":"FUNCTION"},{"texts":[{"value":"Protein modification; protein sumoylation"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08152"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14532282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19651900"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21836637"}],"value":"Interacts with HCFC1 (PubMed:14532282). Interacts with WWP2 (PubMed:19651900). Interacts with UBC9 (PubMed:21836637). Interacts with CITED1 (By similarity). Interacts (via phosphorylated form) with SFN (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08152"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"Long"},"isoformIds":["P11161-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"Short"},"isoformIds":["P11161-2"],"sequenceIds":["VSP_006863"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08152"}],"value":"Ubiquitinated by WWP2 leading to proteasomal degradation"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P08152"}],"value":"Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Neuropathy, congenital hypomyelinating, 1, autosomal recessive","diseaseAccession":"DI-00358","acronym":"CHN1","description":"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.","diseaseCrossReference":{"database":"MIM","id":"605253"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17717711"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22522483"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9537424"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22522483"}],"value":"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)"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Charcot-Marie-Tooth disease, demyelinating, type 1D","diseaseAccession":"DI-00271","acronym":"CMT1D","description":"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.","diseaseCrossReference":{"database":"MIM","id":"607678"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10502832"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10762521"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239949"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12736090"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15241803"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15947997"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17717711"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22546699"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22734907"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30843326"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9537424"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.14"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Dejerine-Sottas syndrome","diseaseAccession":"DI-00387","acronym":"DSS","description":"A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. 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