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GeneE
25 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.
SON
SON DNA and RNA binding protein
Chromosome 21 Β· 21q22.11
NCBI Gene: 6651Ensembl: ENSG00000159140.23HGNC: HGNC:11183UniProt: J3QSZ5
180PubMed Papers
21Diseases
0Drugs
148Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of mRNA splicing, via spliceosomenuclear speckregulation of cell cyclemitotic cytokinesisZTTK syndromegenetic disorderneurodegenerative diseaseIntellectual disability
✦AI Summary

Based on limited published evidence, SON is an RNA-binding protein that functions as a splicing cofactor promoting efficient mRNA splicing of transcripts with weak splice sites. SON facilitates interactions between SR-proteins and RNA polymerase II, and regulates splicing of cell-cycle, DNA-repair, and brain-development genes including TUBG1, AURKB, and FLNA 1. The protein also binds DNA and may repress hepatitis B virus transcription. SON is essential for neuronal migration and metabolism, with mutations causing ZTTK syndrome. GO annotations highlight roles in microtubule organization, mitotic cytokinesis, and apoptotic regulation.

Sources cited
1
SON is essential for correct RNA splicing of genes critical for brain development, neuronal migration, and metabolism
PMID: 27545680
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
ZTTK syndromeOpen Targets
0.78Strong
genetic disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Intellectual disabilityOpen Targets
0.47Moderate
Alzheimer diseaseOpen Targets
0.47Moderate
Parkinson diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOpen Targets
0.46Moderate
Global developmental delayOpen Targets
0.39Weak
Failure to thriveOpen Targets
0.39Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Autosomal dominant spastic paraplegia type 17Open Targets
0.33Weak
hereditary spastic paraplegia 17Open Targets
0.33Weak
Neurodevelopmental abnormalityOpen Targets
0.33Weak
psoriasisOpen Targets
0.30Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
ZTTK syndromeUniProt
Pathogenic Variants148
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)Pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive|Inborn genetic diseases|not provided|Neurodevelopmental abnormality|See cases|Hereditary spastic paraplegia 17
β˜…β˜…β˜†β˜†2025β†’ Residue 1918
NM_138927.4(SON):c.286C>T (p.Gln96Ter)Pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)Pathogenic
not provided|Inborn genetic diseases|ZTTK syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1906
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)Pathogenic
ZTTK syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1633
NM_138927.4(SON):c.3241C>T (p.Arg1081Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1081
NM_138927.4(SON):c.2619_2620del (p.Gln874fs)Pathogenic
not provided|ZTTK syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 874
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1593
NM_138927.4(SON):c.6321+1G>APathogenic
ZTTK syndrome|not provided
β˜…β˜…β˜†β˜†2024
NM_138927.4(SON):c.3073dup (p.Met1025fs)Likely pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive
β˜…β˜…β˜†β˜†2024β†’ Residue 1025
NM_138927.4(SON):c.384del (p.Lys128fs)Pathogenic
ZTTK syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 128
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)Pathogenic
Global developmental delay;Failure to thrive|ZTTK syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 1284
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)Pathogenic
not provided|Inborn genetic diseases|ZTTK syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 1112
NM_138927.4(SON):c.5662_5666del (p.Lys1888fs)Pathogenic
See cases|ZTTK syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 1888
NM_138927.4(SON):c.5473C>T (p.Arg1825Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 1825
NM_138927.4(SON):c.6022C>T (p.Arg2008Ter)Pathogenic
not provided|ZTTK syndrome
β˜…β˜…β˜†β˜†2017β†’ Residue 2008
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs)Pathogenic
ZTTK syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1200
NM_138927.4(SON):c.1403_1578del (p.Glu468fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 468
NM_138927.4(SON):c.4457_4459delinsATTAAATATGAAAGATAT (p.Gly1486_Ile1487delinsAspTer)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1486
NM_138927.4(SON):c.2742T>A (p.Tyr914Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 914
NM_138927.4(SON):c.5331_5334del (p.Arg1778fs)Pathogenic
ZTTK syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1778
View on ClinVar β†—
Related Genes
PRRC2CProtein interaction100%SRSF11Protein interaction98%EIF4A3Protein interaction93%NXF1Protein interaction93%GLE1Protein interaction93%SF3B1Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
47%
Brain
46%
Lung
45%
Heart
37%
Liver
29%
Gene Interaction Network
Click a node to explore
SONPRRC2CSRSF11EIF4A3NXF1GLE1SF3B1
PROTEIN STRUCTURE
Preparing viewer…
PDB7CIQ Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.05Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.02 [0.01–0.05]
RankingsWhere SON stands among ~20K protein-coding genes
  • #2,422of 20,598
    Most Researched180 Β· top quartile
  • #511of 5,498
    Most Pathogenic Variants148 Β· top 10%
  • #6of 17,882
    Most Constrained (LOEUF)0.05 Β· top 1%
Genes detectedSON
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Daughters increase longevity of fathers, but daughters and sons equally reduce longevity of mothers.
PMID: 16634019
Am J Hum Biol Β· 2006
1.00
2
Commentary: The prodigal son returns.
PMID: 33323197
J Thorac Cardiovasc Surg Β· 2022
0.90
3
Women's education and desire for additional children in Vietnam: regional differences and the role of son preference.
PMID: 34629135
J Biosoc Sci Β· 2022
0.88
4
Intergenerational effects-causation or confounding?
PMID: 29891086
Fertil Steril Β· 2018
0.80
5
Learning Our Son's Language.
PMID: 38241034
JAMA Β· 2024
0.70