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UniProtKB - P11161 (EGR2_HUMAN)

Entry version 215 (02 Dec 2020)
Sequence version 3 (19 Jul 2003)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri340 – 364C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri370 – 392C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri398 – 420C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Transferase
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P11161

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-5617472, Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9031628, NGF-stimulated transcription
R-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P11161

SIGNOR Signaling Network Open Resource

More...SIGNORi		P11161

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00886

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 SUMO-protein ligase EGR2 (EC:2.3.2.-1 Publication)
Alternative name(s):
AT591
E3 SUMO-protein transferase ERG2Curated
Early growth response protein 2
Short name:
EGR-2
Zinc finger protein Krox-20
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EGR2
Synonyms:KROX20
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000122877.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:3239, EGR2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		129010, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P11161

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_007735268I → N in CHN1; loss of large and small myelinated nerve fibers. 2 PublicationsCorresponds to variant dbSNP:rs104894158EnsemblClinVar.1
Natural variantiVAR_007737382 – 383SD → RY in CHN1. 2
Charcot-Marie-Tooth disease 1D (CMT1D)12 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.
Related information in OMIM
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; loss of DNA binding and loss of transactivation activity; loss of small and large myelinated nerve fibers; residual fibers with thin myelin sheaths. 4 PublicationsCorresponds to variant dbSNP:rs104894161EnsemblClinVar.1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs281865137EnsemblClinVar.1
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894160EnsemblClinVar.1
Natural variantiVAR_083343387T → N in CMT1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865139EnsemblClinVar.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894159EnsemblClinVar.1
Natural variantiVAR_083345412E → G in CMT1D; loss of myelinated and unmyelinated nerve fibers. 2 PublicationsCorresponds to variant dbSNP:rs749558026EnsemblClinVar.1
Dejerine-Sottas syndrome (DSS)3 Publications
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.
Related information in OMIM
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; loss of DNA binding and loss of transactivation activity; loss of small and large myelinated nerve fibers; residual fibers with thin myelin sheaths. 4 PublicationsCorresponds to variant dbSNP:rs104894161EnsemblClinVar.1
Natural variantiVAR_083344411D → G in DSS. 1 Publication1
Natural variantiVAR_083346412E → K in DSS; loss of DNA binding and loss of transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121434563EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		1959

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		EGR2

MalaCards human disease database

More...MalaCardsi		EGR2
MIMi145900, phenotype
605253, phenotype
607678, phenotype

Open Targets

More...OpenTargetsi		ENSG00000122877

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		101084, Charcot-Marie-Tooth disease type 1D
99951, Charcot-Marie-Tooth disease type 4E
64748, Dejerine-Sottas syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27674

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P11161, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EGR2

Domain mapping of disease mutations (DMDM)

More...DMDMi		33112654

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000471191 – 476E3 SUMO-protein ligase EGR2Add BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei247N6-acetyllysine; by EP300By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by WWP2 leading to proteasomal degradation.By similarity
Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1.By similarity

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P11161

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P11161

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P11161

PeptideAtlas

More...PeptideAtlasi		P11161

PRoteomics IDEntifications database

More...PRIDEi		P11161

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52701 [P11161-1]
52702 [P11161-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P11161, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P11161

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P11161

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122877, Expressed in thyroid gland and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P11161, baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122877, Tissue enhanced (thyroid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108279, 21 interactors

Protein interaction database and analysis system

More...IntActi		P11161, 11 interactors

Molecular INTeraction database

More...MINTi		P11161

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000242480

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P11161, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P11161

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi162 – 165HCFC1-binding-motif (HBM)4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi300 – 309Poly-Ala10

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EGR C2H2-type zinc-finger protein family.Curated

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158394

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_043235_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P11161

Identification of Orthologs from Complete Genome Data

More...OMAi		CPLDSFR

Database of Orthologous Groups

More...OrthoDBi		1621899at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P11161

TreeFam database of animal gene trees

More...TreeFami		TF318980

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR021849, EGR_N
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11928, DUF3446, 1 hit
PF00096, zf-C2H2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355, ZnF_C2H2, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667, SSF57667, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 3 hits
PS50157, ZINC_FINGER_C2H2_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform Long (identifier: P11161-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:426
Mass (Da):44,970
Checksum:iDD358E32D00B4353
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUL0A0A1B0GUL0_HUMAN
E3 SUMO-protein ligase EGR2
EGR2
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA52372 differs from that shown. Reason: Frameshift.Curated
The sequence AAA52372 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 CHN1; loss of large and small myelinated nerve fibers. 2 PublicationsCorresponds to variant dbSNP:rs104894158EnsemblClinVar.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; loss of DNA binding and loss of transactivation activity; loss of small and large myelinated nerve fibers; residual fibers with thin myelin sheaths. 4 PublicationsCorresponds to variant dbSNP:rs104894161EnsemblClinVar.1
Natural variantiVAR_029958381R → C in CMT1D. 1 Publication1
Natural variantiVAR_009875381R → H in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs281865137EnsemblClinVar.1
Natural variantiVAR_007737382 – 383SD → RY in CHN1. 2
Natural variantiVAR_029959383D → Y in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894160EnsemblClinVar.1
Natural variantiVAR_083343387T → N in CMT1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865139EnsemblClinVar.1
Natural variantiVAR_007738409R → W in CMT1D. 1 PublicationCorresponds to variant dbSNP:rs104894159EnsemblClinVar.1
Natural variantiVAR_083344411D → G in DSS. 1 Publication1
Natural variantiVAR_083345412E → G in CMT1D; loss of myelinated and unmyelinated nerve fibers. 2 PublicationsCorresponds to variant dbSNP:rs749558026EnsemblClinVar.1
Natural variantiVAR_083346412E → K in DSS; loss of DNA binding and loss of transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121434563EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0068631 – 50Missing in isoform Short. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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 No translation available.
CH471083 Genomic DNA Translation: EAW54238.1
CH471083 Genomic DNA Translation: EAW54239.1
BC035625 mRNA Translation: AAH35625.1
X53700 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44409.1 [P11161-2]
CCDS7267.1 [P11161-1]

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000242480; ENSP00000242480; ENSG00000122877 [P11161-1]
ENST00000411732; ENSP00000387634; ENSG00000122877 [P11161-2]
ENST00000439032; ENSP00000402040; ENSG00000122877 [P11161-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1959

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1959

UCSC genome browser

More...UCSCi		uc001jmi.4, human [P11161-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 No translation available.
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]

3D structure databases

SMRiP11161
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108279, 21 interactors
IntActiP11161, 11 interactors
MINTiP11161
STRINGi9606.ENSP00000242480

PTM databases

GlyGeniP11161, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP11161
PhosphoSitePlusiP11161

Polymorphism and mutation databases

BioMutaiEGR2
DMDMi33112654

Proteomic databases

jPOSTiP11161
MassIVEiP11161
PaxDbiP11161
PeptideAtlasiP11161
PRIDEiP11161
ProteomicsDBi52701 [P11161-1]
52702 [P11161-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14464, 493 antibodies

The DNASU plasmid repository

More...DNASUi		1959

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

Comparative Toxicogenomics Database

More...CTDi		1959
DisGeNETi1959
EuPathDBiHostDB:ENSG00000122877.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		EGR2
GeneReviewsiEGR2
HGNCiHGNC:3239, EGR2
HPAiENSG00000122877, Tissue enhanced (thyroid)
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000158394
HOGENOMiCLU_043235_0_0_1
InParanoidiP11161
OMAiCPLDSFR
OrthoDBi1621899at2759
PhylomeDBiP11161
TreeFamiTF318980

Enzyme and pathway databases

UniPathwayiUPA00886
PathwayCommonsiP11161
ReactomeiR-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-5617472, Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9031628, NGF-stimulated transcription
R-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination
SignaLinkiP11161
SIGNORiP11161

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1959, 224 hits in 862 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EGR2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1959
PharosiP11161, Tbio

Protein Ontology

More...PROi		PR:P11161
RNActiP11161, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122877, Expressed in thyroid gland and 118 other tissues
ExpressionAtlasiP11161, baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR021849, EGR_N
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type
PfamiView protein in Pfam
PF11928, DUF3446, 1 hit
PF00096, zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355, ZnF_C2H2, 3 hits
SUPFAMiSSF57667, SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 3 hits
PS50157, ZINC_FINGER_C2H2_2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEGR2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P11161
Secondary accession number(s): B2R724
, B3KRD7, Q68CZ5, Q8IV26, Q9UNA6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 19, 2003
Last modified: December 2, 2020
This is version 215 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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