Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1959
Gene name Gene Name - the full gene name approved by the HGNC.	Early growth response 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EGR2
Synonyms (NCBI Gene) Gene synonyms aliases	AT591, CMT1D, CMT4E, KROX20
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q21.3
Summary Summary of gene provided in NCBI Entrez 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-Sotta

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894158	A>T	Pathogenic	Missense variant, coding sequence variant
rs104894159	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894160	C>A,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894161	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121434563	C>T	Pathogenic	Missense variant, coding sequence variant
rs139147487	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs143793213	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs146631014	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs281865136	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs281865137	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs281865138	A>C	Pathogenic	Coding sequence variant, missense variant
rs281865139	G>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs530614586	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565355765	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs751448371	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs864622273	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs879254278	T>C	Pathogenic	Coding sequence variant, missense variant
rs1589080524	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

Show/Hide all(39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003417	hsa-miR-100-5p	Microarray, qRT-PCR	19396866
MIRT003222	hsa-miR-150-5p	Luciferase reporter assay, semi-qRT-PCR, Western blot	20067763
MIRT020183	hsa-miR-130b-3p	Sequencing	20371350
MIRT022653	hsa-miR-124-3p	Microarray	18668037
MIRT028079	hsa-miR-93-5p	Sequencing	20371350
MIRT053247	hsa-miR-142-3p	Flow, Microarray, qRT-PCR, Western blot	23602969
MIRT053563	hsa-miR-20a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23924943
MIRT003222	hsa-miR-150-5p	Luciferase reporter assay, Microarray, qRT-PCR	23604034
MIRT756073	hsa-miR-141-3p	Luciferase reporter assay	36811100
MIRT756074	hsa-miR-200a-3p	Luciferase reporter assay	36811100
MIRT955023	hsa-miR-34a	CLIP-seq
MIRT955024	hsa-miR-34c-5p	CLIP-seq
MIRT955025	hsa-miR-3978	CLIP-seq
MIRT955026	hsa-miR-449a	CLIP-seq
MIRT955027	hsa-miR-449b	CLIP-seq
MIRT955028	hsa-miR-486-3p	CLIP-seq
MIRT955029	hsa-miR-621	CLIP-seq
MIRT2217828	hsa-miR-124	CLIP-seq
MIRT2217829	hsa-miR-3618	CLIP-seq
MIRT2217830	hsa-miR-377	CLIP-seq
MIRT2217831	hsa-miR-4457	CLIP-seq
MIRT2217832	hsa-miR-4731-3p	CLIP-seq
MIRT2217833	hsa-miR-4801	CLIP-seq
MIRT2217834	hsa-miR-499-3p	CLIP-seq
MIRT2217835	hsa-miR-499a-3p	CLIP-seq
MIRT2217836	hsa-miR-506	CLIP-seq
MIRT2217837	hsa-miR-934	CLIP-seq
MIRT2521704	hsa-miR-1296	CLIP-seq
MIRT2521705	hsa-miR-197	CLIP-seq
MIRT2521706	hsa-miR-2909	CLIP-seq
MIRT2521707	hsa-miR-4512	CLIP-seq
MIRT2521704	hsa-miR-1296	CLIP-seq
MIRT2521705	hsa-miR-197	CLIP-seq
MIRT2679854	hsa-miR-28-3p	CLIP-seq
MIRT2521706	hsa-miR-2909	CLIP-seq
MIRT2679855	hsa-miR-3194-3p	CLIP-seq
MIRT2679856	hsa-miR-3920	CLIP-seq
MIRT2521707	hsa-miR-4512	CLIP-seq
MIRT2679857	hsa-miR-549	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
EWSR1	Unknown	22327514
GLI1	Repression	18924150
SCD5	Unknown	22510410

Show/Hide all(75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12687019
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	17717711
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12687019
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	14532282
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	14532282
GO:0005634	Component	Nucleus	IC	14532282
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006611	Process	Protein export from nucleus	IEA
GO:0006611	Process	Protein export from nucleus	ISS
GO:0007420	Process	Brain development	TAS	9537424
GO:0007422	Process	Peripheral nervous system development	TAS	9537424
GO:0007622	Process	Rhythmic behavior	IEA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0014037	Process	Schwann cell differentiation	ISS
GO:0014040	Process	Positive regulation of Schwann cell differentiation	IEA
GO:0014040	Process	Positive regulation of Schwann cell differentiation	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0021569	Process	Rhombomere 3 development	IEA
GO:0021612	Process	Facial nerve structural organization	IEA
GO:0021612	Process	Facial nerve structural organization	ISS
GO:0021659	Process	Rhombomere 3 structural organization	IEA
GO:0021659	Process	Rhombomere 3 structural organization	ISS
GO:0021660	Process	Rhombomere 3 formation	IEA
GO:0021665	Process	Rhombomere 5 structural organization	IEA
GO:0021665	Process	Rhombomere 5 structural organization	ISS
GO:0021666	Process	Rhombomere 5 formation	IEA
GO:0030278	Process	Regulation of ossification	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19651900
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0035284	Process	Brain segmentation	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	ISS
GO:0042552	Process	Myelination	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	17717711
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12687019, 17717711
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0061665	Function	SUMO ligase activity	IEA
GO:0061665	Function	SUMO ligase activity	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
129010	3239	ENSG00000122877

Protein

UniProt ID

P11161

Protein name

E3 SUMO-protein ligase EGR2 (EC 2.3.2.-) (AT591) (E3 SUMO-protein transferase ERG2) (Early growth response protein 2) (EGR-2) (Zinc finger protein Krox-20)

Protein 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 ge

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11928	DUF3446	94 → 184	Early growth response N-terminal domain	Domain
PF00096	zf-C2H2	340 → 364	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	370 → 392	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	398 → 420	Zinc finger, C2H2 type	Domain

Sequence

MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAELGGPFDQMNGVAGDGMI
NIDMTGEKRSLDLPYPSSFAPVSAPRNQTFTYMGKFSIDPQYPGASCYPEGIINIVSAGI
LQGVTSPASTTASSSVTSASPNPLATGPLGVCTMSQTQPDLDHLYSPPPPPPPYSGCAGD
LYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPGLFPMIPDYPGFFPSQCQRDLHG
TAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGGSEGPRLPGSSSA
AAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTPVHERPYPCPAEGCDRRFSRSDELTRH
IRIHTGHKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFACDYCGRKFARSDERKRHTKIH
LRQKERKSSAPSASVPAPSTASCSGGVQPGGTLCSSNSSSLGGGPLAPCSSRTRTP

Sequence length

476

Interactions

View interactions

	KEGG		Reactome
	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection Viral carcinogenesis		NGF-stimulated transcription EGR2 and SOX10-mediated initiation of Schwann cell myelination

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	charcot-marie-tooth disease type 1d, Charcot-Marie-Tooth Disease	rs104894159, rs281865137, rs1589080524, rs104894161, rs749558026, rs281865136	N/A
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease, type I	rs281865136, rs1589080524, rs104894159, rs281865137, rs104894161, rs864622273, rs749558026, rs121434563, rs751448371	N/A
dejerine-sottas disease	Dejerine-Sottas disease	rs104894161, rs121434563	N/A
neoplasm	Neoplasm	rs751448371	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Spastic Paraplegia	spastic paraplegia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (73)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	37549144
Behcet Syndrome	Associate	28166214, 29907633
Bipolar Disorder	Associate	22089088
Breast Neoplasms	Associate	34932815, 36788602
Carcinogenesis	Associate	23924943, 31918125
Carcinoma Hepatocellular	Associate	28485808, 31543683, 33023539
Carcinoma Hepatocellular	Inhibit	36046377
Carcinoma Non Small Cell Lung	Associate	25935837
Carcinoma Renal Cell	Associate	34326314
Charcot Marie Tooth Disease	Associate	10762521, 11545686, 30889162, 31852952, 34169998, 40262821
Charcot Marie Tooth disease Type 1D	Associate	30889162
Charcot Marie Tooth disease Type 2B	Associate	10762521
Charcot Marie Tooth disease Type 4E	Associate	31852952
Colitis Ulcerative	Associate	32908909
COVID 19	Associate	37291167
Cranial Nerve Diseases	Associate	10762521
Crohn Disease	Associate	28166214
Deglutition Disorders	Associate	40262821
Demyelinating Diseases	Associate	31852952
Dermatitis Atopic	Associate	31511620
Diabetes Mellitus	Associate	37713834
Dyspnea	Associate	21840889
Epilepsy	Associate	17910586
Epilepsy Partial with Variable Foci	Stimulate	17910586
Glioblastoma	Associate	15494095
Graves Ophthalmopathy	Associate	38536014
Heart Failure	Associate	36859608
Hereditary Sensory and Motor Neuropathy	Associate	31852952
Hyperoxia	Associate	34868007
Hypoxia	Associate	34868007
IgA Vasculitis	Associate	33280050
Infant Premature Diseases	Associate	36788602
Inflammation	Stimulate	22915601
Inflammation	Associate	34868007, 36797040
Kidney Failure Chronic	Associate	30212930
Leiomyoma	Stimulate	21703609
Leprosy	Associate	28166214
Leukemia	Associate	28596280
Leukemia Lymphocytic Chronic B Cell	Associate	25185189, 27890934, 36566271
Leukemia Myeloid	Associate	1864967
Leukemia Myeloid Acute	Associate	28569789
Leukemia Myeloid Acute	Inhibit	31492897
Leukemia Myelomonocytic Chronic	Associate	23602969
Lymphoma	Associate	28064239
Lymphoma Follicular	Associate	28064239
Mandibular Nerve Injuries	Associate	32303273
Melanoma	Stimulate	38001098
Muscle Hypotonia	Associate	21840889
Neoplasm Metastasis	Associate	24485798, 34326314
Neoplasms	Inhibit	14596916
Neoplasms	Associate	25185189, 28485808, 31892342, 33023539, 36046377, 37713834
Neoplasms	Stimulate	37328520
Neoplastic Syndromes Hereditary	Associate	21840889, 30889162
Osteoarthritis	Associate	37291167
Osteosarcoma	Associate	26238942
Pallidopyramidal syndrome	Associate	30889162
Peripheral Nervous System Diseases	Associate	10915613, 31852952
Personality Disorders	Associate	33023539
Precancerous Conditions	Stimulate	32432752
Premature Birth	Associate	36788602
Prostatic Neoplasms	Associate	27528026, 37857190
Rectal Neoplasms	Associate	28956832
Reperfusion Injury	Associate	38266883
Scoliosis	Associate	40262821
Small Cell Lung Carcinoma	Associate	35927660
Stomach Neoplasms	Associate	23924943, 28078605
Thrombosis	Stimulate	37328520
Thyroid Cancer Papillary	Associate	32432752
Triple Negative Breast Neoplasms	Associate	38305604
Uveal melanoma	Associate	34436011
Uveomeningoencephalitic Syndrome	Associate	32437414
Vaccinia	Associate	39940969
Vasculitis	Associate	36797040

EGR2 (early growth response 2)