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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SRRM4
serine/arginine repetitive matrix 4
Chromosome 12 Β· 12q24.23
NCBI Gene: 84530Ensembl: ENSG00000139767.11HGNC: HGNC:29389UniProt: A7MD48
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingregulation of alternative mRNA splicing, via spliceosomecell differentiationneurodegenerative diseasealcohol drinkingautosomal dominant compelling helio-ophthalmic outburst syndromeMyoclonus
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

serine/arginine repetitive matrix 4

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.35Weak
autosomal dominant compelling helio-ophthalmic outburst syndromeOpen Targets
0.33Weak
MyoclonusOpen Targets
0.32Weak
VertigoOpen Targets
0.32Weak
atrial heart septal defectOpen Targets
0.19Weak
Phenotypic abnormalityOpen Targets
0.16Weak
small cell lung carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
essential tremorOpen Targets
0.07Suggestive
Young adult-onset ParkinsonismOpen Targets
0.07Suggestive
deafnessOpen Targets
0.06Suggestive
dystonia 27Open Targets
0.06Suggestive
Hereditary late-onset Parkinson diseaseOpen Targets
0.06Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
Cranio-cervical dystonia with laryngeal and upper-limb involvementOpen Targets
0.06Suggestive
X-linked dystonia-parkinsonismOpen Targets
0.06Suggestive
Primary dystonia, DYT13 typeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DAAM1Protein interaction90%SRSF11Protein interaction85%PTBP2Protein interaction66%RBFOX3Shared pathway50%HNRNPLShared pathway43%RBFOX1Shared pathway43%
Tissue Expression6 tissues
Brain
100%
Heart
10%
Ovary
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SRRM4DAAM1SRSF11PTBP2RBFOX3HNRNPLRBFOX1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A7MD48
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.36–0.65]
RankingsWhere SRRM4 stands among ~20K protein-coding genes
  • #12,244of 20,598
    Most Researched29
  • #4,766of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedSRRM4
Sources retrieved0 papers
Response timeβ€”