EGR2

Chr 10q21.3

early growth response 2

MANE:: ENST00000242480.4

OMIM: 129010 ↗NCBI: 1959 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EGR2 · P11161

v62025-08-01

Predicted Aligned Error matrix for EGR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.8/ 100

Very low

476 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)15%
Low(50–70)9%
Very low(< 50)73%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel
Unknown

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 1D
0.78
Dejerine-Sottas syndrome
0.69
Charcot-Marie-Tooth disease type 1
0.66
Charcot-Marie-Tooth disease type 4E
0.65
Charcot-Marie-Tooth disease type 3
0.51
neurodegenerative disease
0.45
hypothyroidism
0.42
Charcot-Marie-Tooth disease
0.42
inflammatory bowel disease
0.38
neuropathy, congenital hypomelinating
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 SUMO-protein ligase EGR2

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)