EGR2

early growth response 2

15 disorders 10 untyped 2 susceptibility 2 causative 1 no genetic record 10q21.3 gene with protein product

HGNC:3239 Monarch NCBI Gene 1959 ENSG00000122877 UniProt P11161 OMIM 129010

Previous symbols: KROX20.

Normal function · from ai-gene-review (P11161, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Celiac Disease	susceptibility
Charcot-Marie-Tooth Disease Type 4	causative	mechanism: EGR2-Dependent Schwann Cell Differentiation Block subtype: CMT4E scoped to subtype: CMT4E
Congenital Hypomyelinating Neuropathy	causative germline	mechanism: Myelination Gene Lesion in Developing Schwann Cells subtype: CHN1 scoped to subtype: CHN1
Type I Diabetes	susceptibility germline
Ankylosing Spondylitis	untyped GWAS
Asthma	untyped GWAS
Atopic Dermatitis	untyped GWAS
Charcot-Marie-Tooth Disease Type 1	untyped Causal	mechanism: EGR2 Schwann-Cell Myelination Program Failure subtype: CMT1D scoped to subtype: CMT1D
Crohn Disease	untyped GWAS
Multiple Sclerosis	untyped GWAS
Psoriasis	untyped GWAS
Rheumatoid Arthritis	untyped GWAS
Systemic Lupus Erythematosus	untyped GWAS
Ulcerative Colitis	untyped GWAS
Ewing Sarcoma	no genetic record	mechanism: GGAA Microsatellite Germline Susceptibility Architecture discussion: (unnamed)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Charcot-Marie-Tooth disease MONDO:0015626	SD	Definitive 2021-11-17	Charcot-Marie-Tooth Disease not named

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 4, Congenital Hypomyelinating Neuropathy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.