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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRMT7
protein arginine methyltransferase 7
Chromosome 16 Β· 16q22.1
NCBI Gene: 54496Ensembl: ENSG00000132600.18HGNC: HGNC:25557UniProt: A0A8I5KPP4
65PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spliceosomal snRNP assemblycytosolprotein-arginine omega-N monomethyltransferase activityprotein-arginine omega-N symmetric methyltransferase activityshort stature-brachydactyly-obesity-global developmental delay syndromegenetic disorderobesitybrachydactyly
✦AI Summary

PRMT7 is a Type III protein arginine methyltransferase that catalyzes arginine monomethylation (MMA) and symmetrical dimethylation (sDMA) with preference for MMA formation 1. It mediates symmetrical dimethylation of histone H4 at arginine-3 (H4R3me2s) and histone H3 at arginine-2 (H3R2me2s), regulating chr16-based gene expression 2. PRMT7 also catalyzes methylation of spliceosomal snRNPs (Sm D1/D3) required for snRNP assembly and methylates RNA-binding proteins like hnRNPA1, influencing alternative splicing 3. Mechanistically, PRMT7 participates in multiple regulatory pathways: NF-ΞΊB-induced PRMT7 promotes monocyte extravasation via RAP1A methylation in COPD 4, arginine methylation of HSP70 contributes to cellular stress responses 5, and loss of PRMT7 increases endogenous retroviral expression through reduced DNA methylation, enhancing anti-tumor immunity 6. PRMT7 also reprograms glycine metabolism to eliminate leukemia stem cells in CML 7. Clinically, PRMT7 dysregulation associates with colorectal and non-small cell lung cancers; high PRMT7 expression correlates with increased cancer risk through activation of YAP/AKT/KRAS pathways 28. PRMT7 inhibition via SGC3027 shows promise as a therapeutic strategy across multiple cancer types 362. Germline PRMT7 deficiency causes intellectual developmental delay and hypotonia in humans 1.

Sources cited
1
PRMT7 is a Type III protein arginine methyltransferase that catalyzes arginine monomethylation (MMA) and symmetrical dimethylation (sDMA) with preference for MMA formation .
PMID: 30802433
2
It mediates symmetrical dimethylation of histone H4 at arginine-3 (H4R3me2s) and histone H3 at arginine-2 (H3R2me2s), regulating chr16-based gene expression .
PMID: 37541527
3
PRMT7 also catalyzes methylation of spliceosomal snRNPs (Sm D1/D3) required for snRNP assembly and methylates RNA-binding proteins like hnRNPA1, influencing alternative splicing .
PMID: 33782401
4
Mechanistically, PRMT7 participates in multiple regulatory pathways: NF-ΞΊB-induced PRMT7 promotes monocyte extravasation via RAP1A methylation in COPD , arginine methylation of HSP70 contributes to cellular stress responses , and loss of PRMT7 increases endogenous retroviral expression through reduced DNA methylation, enhancing anti-tumor immunity .
PMID: 35288557
5
Mechanistically, PRMT7 participates in multiple regulatory pathways: NF-ΞΊB-induced PRMT7 promotes monocyte extravasation via RAP1A methylation in COPD , arginine methylation of HSP70 contributes to cellular stress responses , and loss of PRMT7 increases endogenous retroviral expression through reduced DNA methylation, enhancing anti-tumor immunity .
PMID: 32409666
6
Mechanistically, PRMT7 participates in multiple regulatory pathways: NF-ΞΊB-induced PRMT7 promotes monocyte extravasation via RAP1A methylation in COPD , arginine methylation of HSP70 contributes to cellular stress responses , and loss of PRMT7 increases endogenous retroviral expression through reduced DNA methylation, enhancing anti-tumor immunity .
PMID: 35354055
7
PRMT7 also reprograms glycine metabolism to eliminate leukemia stem cells in CML .
PMID: 35508169
Disease Associationsβ“˜21
short stature-brachydactyly-obesity-global developmental delay syndromeOpen Targets
0.80Strong
genetic disorderOpen Targets
0.51Moderate
obesityOpen Targets
0.49Moderate
brachydactylyOpen Targets
0.43Moderate
Abnormal facial shapeOpen Targets
0.43Moderate
Abnormality of the dentitionOpen Targets
0.43Moderate
acanthosis nigricansOpen Targets
0.43Moderate
Hepatic steatosisOpen Targets
0.43Moderate
hyperlipidemiaOpen Targets
0.43Moderate
Insulin resistanceOpen Targets
0.43Moderate
Lumbar hyperlordosisOpen Targets
0.43Moderate
renal hypoplasiaOpen Targets
0.43Moderate
Self-injurious behaviorOpen Targets
0.43Moderate
Severe intellectual disabilityOpen Targets
0.43Moderate
Short metacarpalOpen Targets
0.43Moderate
Short statureOpen Targets
0.43Moderate
skeletal dysplasiaOpen Targets
0.43Moderate
Neurodevelopmental abnormalityOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Short stature, brachydactyly, impaired intellectual developmental, and seizuresUniProt
Pathogenic Variants44
NM_019023.5(PRMT7):c.1056-1G>TPathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|Neurodevelopmental abnormality|not provided|PRMT7-related disorder
β˜…β˜…β˜†β˜†2026
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 274
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)Pathogenic
15 conditions|not provided|Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 571
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 323
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)Pathogenic
15 conditions|Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 108
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 159
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 390
NM_019023.5(PRMT7):c.471del (p.Ser158fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 158
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 416
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 387
NM_019023.5(PRMT7):c.1727_1745dup (p.Phe583fs)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 583
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 32
NM_019023.5(PRMT7):c.2008del (p.Tyr670fs)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 670
NM_019023.5(PRMT7):c.132+1G>ALikely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2025
NM_019023.5(PRMT7):c.1283C>G (p.Thr428Arg)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 428
NM_019023.5(PRMT7):c.391+5G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_019023.5(PRMT7):c.194del (p.Lys65fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 65
NM_019023.5(PRMT7):c.282+1G>ALikely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2024
NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 313
NM_019023.5(PRMT7):c.847del (p.Asp283fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 283
View on ClinVar β†—
Related Genes
EIF2S2Protein interaction100%H4C7Protein interaction91%CTCFLProtein interaction90%WDR77Protein interaction82%H4C6Protein interaction80%PRMT5Protein interaction56%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
90%
Heart
82%
Liver
78%
Lung
52%
Brain
50%
Gene Interaction Network
Click a node to explore
PRMT7EIF2S2H4C7CTCFLWDR77H4C6PRMT5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NVM4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.66–1.01]
RankingsWhere PRMT7 stands among ~20K protein-coding genes
  • #7,199of 20,598
    Most Researched65
  • #1,444of 5,498
    Most Pathogenic Variants44
  • #9,828of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPRMT7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The arginine methyltransferase PRMT7 promotes extravasation of monocytes resulting in tissue injury in COPD.
PMID: 35288557
Nat Commun Β· 2022
1.00
2
Profiling PRMT methylome reveals roles of hnRNPA1 arginine methylation in RNA splicing and cell growth.
PMID: 33782401
Nat Commun Β· 2021
0.90
3
Pharmacological inhibition of PRMT7 links arginine monomethylation to the cellular stress response.
PMID: 32409666
Nat Commun Β· 2020
0.80
4
PRMT7 ablation stimulates anti-tumor immunity and sensitizes melanoma to immune checkpoint blockade.
PMID: 35354055
Cell Rep Β· 2022
0.70
5
Genetic Control of Alternative Splicing and its Distinct Role in Colorectal Cancer Mechanisms.
PMID: 37541527
Gastroenterology Β· 2023
0.60