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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ERF
ETS2 repressor factor
Chromosome 19 Β· 19q13.2
NCBI Gene: 2077Ensembl: ENSG00000105722.12HGNC: HGNC:3444UniProt: P50548
69PubMed Papers
22Diseases
0Drugs
55Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmDNA-binding transcription repressor activity, RNA polymerase II-specificnucleolusprotein bindingChitayat syndromecraniosynostosis 4TWIST1-related craniosynostosisLambdoidal craniosynostosis
✦AI Summary

ERF (ETS2 repressor factor) is a transcriptional repressor that negatively regulates RAS-MAPK signaling through sequence-specific DNA binding 1. As a member of the AP2/ERF transcription factor family 2, ERF functions as a potent repressor involved in developmental processes including trophoblast differentiation and potentially skeletal development. Loss-of-function variants in ERF cause a RASopathy phenotype resembling Noonan syndrome, characterized by developmental delay, distinctive facial features (macrocephaly, hypertelorism, ptosis), and growth deficiency, with craniosynostosis occurring in approximately 12% of affected individuals 1. ERF haploinsufficiency through truncating and frameshift mutations leads to dysregulation of MAPK signaling 1. In systemic sclerosis, ERF overexpression in endothelial cells is associated with dysregulated angiogenesis and arterial endothelial apoptosis 3. Clinical manifestations of ERF-related disorders include cognitive difficulties (attention deficits, fine motor impairment), high-frequency speech and language difficulties, and otologic complications 4. Established ERF knockout human embryonic stem cell lines maintain pluripotency while enabling investigation of ERF's roles in development and differentiation 5. These findings establish ERF as a critical negative regulator of proliferative signaling with broad implications for developmental and vascular biology.

Sources cited
1
ERF encodes a transcriptional regulator negatively controlling RAS-MAPK signaling; loss-of-function variants cause Noonan syndrome-like phenotype with developmental delay, facial dysmorphism, and variable craniosynostosis; ERF acts through haploinsufficiency
PMID: 38824261
2
ERF belongs to AP2/ERF family of transcription factors; 76.8% of micro-exons in AP2 domains are conserved and under negative selection
PMID: 32986930
3
ERF overexpression in endothelial cells is associated with dysregulated angiogenesis, arterial apoptosis, and vascular complications in systemic sclerosis
PMID: 38754983
4
Pathogenic ERF variants associated with cognitive difficulties including poor attention and fine motor impairment; high frequency of speech, language and communication difficulties; otologic complications
PMID: 35761471
5
ERF is a transcription factor involved in development, trophoblast differentiation, apoptosis, and cancer; ERF knockout hESC lines maintain pluripotency and differentiation potential
PMID: 31743839
Disease Associationsβ“˜22
Chitayat syndromeOpen Targets
0.72Strong
craniosynostosis 4Open Targets
0.72Strong
TWIST1-related craniosynostosisOpen Targets
0.56Moderate
Lambdoidal craniosynostosisOpen Targets
0.56Moderate
isolated oxycephalyOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
Noonan syndromeOpen Targets
0.50Moderate
Crouzon diseaseOpen Targets
0.37Weak
Crouzon syndromeOpen Targets
0.37Weak
MacrocephalyOpen Targets
0.33Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
multiple myelomaOpen Targets
0.26Weak
craniosynostosisOpen Targets
0.16Weak
multiple congenital anomalies/dysmorphic syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.07Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.06Suggestive
Chitayat syndromeUniProt
Craniosynostosis 4UniProt
Pathogenic Variants55
NM_006494.4(ERF):c.427del (p.Arg143fs)Pathogenic
Inborn genetic diseases|TWIST1-related craniosynostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 143
NM_006494.4(ERF):c.652C>T (p.Arg218Ter)Pathogenic
not provided|TWIST1-related craniosynostosis|Noonan Syndrome-like developmental disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)Pathogenic
Lambdoidal craniosynostosis|not provided|TWIST1-related craniosynostosis|ERF-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 86
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)Pathogenic
not provided|Lambdoidal craniosynostosis|Neurodevelopmental disorder|TWIST1-related craniosynostosis|Chitayat syndrome|ERF-related disorder|Noonan Syndrome-like developmental disorder|Noonan-like syndrome|Noonan syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 401
NM_006494.4(ERF):c.911_913del (p.Ser304del)Pathogenic
TWIST1-related craniosynostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 304
NM_006494.4(ERF):c.891_892del (p.Gly299fs)Pathogenic
Lambdoidal craniosynostosis|TWIST1-related craniosynostosis|Inborn genetic diseases|See cases|not provided|Chitayat syndrome|Chitayat syndrome;Lambdoidal craniosynostosis|Noonan-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)Pathogenic
Lambdoidal craniosynostosis|TWIST1-related craniosynostosis|Lambdoidal craniosynostosis;Chitayat syndrome|Noonan-like syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_006494.4(ERF):c.157G>A (p.Gly53Arg)Likely pathogenic
See cases|Noonan-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 53
NM_006494.4(ERF):c.697C>T (p.Arg233Ter)Pathogenic
Inborn genetic diseases|not provided|Lambdoidal craniosynostosis|Noonan Syndrome-like developmental disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 233
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)Pathogenic
Chitayat syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 89
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 263
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)Pathogenic
TWIST1-related craniosynostosis|Lambdoidal craniosynostosis
β˜…β˜…β˜†β˜†2024β†’ Residue 188
NM_006494.4(ERF):c.41G>A (p.Trp14Ter)Likely pathogenic
Lambdoidal craniosynostosis|ERF-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 14
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)Pathogenic
TWIST1-related craniosynostosis|Inborn genetic diseases|not provided|Noonan Syndrome-like developmental disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 207
NM_006494.4(ERF):c.397_407del (p.Pro133fs)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 133
NM_006494.4(ERF):c.71C>G (p.Ser24Ter)Pathogenic
TWIST1-related craniosynostosis|Lambdoidal craniosynostosis;Chitayat syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 24
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)Pathogenic
not provided|TWIST1-related craniosynostosis
β˜…β˜…β˜†β˜†2020β†’ Residue 358
NM_006494.4(ERF):c.679dup (p.His227fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 227
NM_006494.4(ERF):c.103G>T (p.Glu35Ter)Pathogenic
Common craniosynostosis syndromes
β˜…β˜†β˜†β˜†2025β†’ Residue 35
NM_006494.4(ERF):c.879dup (p.Pro294fs)Likely pathogenic
Lambdoidal craniosynostosis
β˜…β˜†β˜†β˜†2025β†’ Residue 294
View on ClinVar β†—
Related Genes
PPDPFLShared pathway100%ETV3LShared pathway100%ERFLShared pathway100%NKX1-2Shared pathway100%NHSL2Shared pathway100%ZNF800Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
92%
Lung
81%
Brain
55%
Heart
36%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
ERFPPDPFLETV3LERFLNKX1-2NHSL2ZNF800
PROTEIN STRUCTURE
Preparing viewer…
PDB7JSA Β· 2.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.16–0.44]
RankingsWhere ERF stands among ~20K protein-coding genes
  • #6,798of 20,598
    Most Researched69
  • #1,243of 5,498
    Most Pathogenic Variants55 Β· top quartile
  • #2,437of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedERF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DNA-binding specificity of the ERF/AP2 domain of Arabidopsis DREBs, transcription factors involved in dehydration- and cold-inducible gene expression.
PMID: 11798174
Biochem Biophys Res Commun Β· 2002
1.00
2
Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
PMID: 32986930
FEBS Open Bio Β· 2020
0.90
3
Single-cell transcriptomes and chromatin accessibility of endothelial cells unravel transcription factors associated with dysregulated angiogenesis in systemic sclerosis.
PMID: 38754983
Ann Rheum Dis Β· 2024
0.80
4
Generation of two ERF gene knockout human embryonic stem cell lines using CRISPR/Cas9 system.
PMID: 31743839
Stem Cell Res Β· 2019
0.70
5
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
PMID: 38824261
Eur J Hum Genet Β· 2024
0.60