SRRM2 Chromosome 16

Serine/arginine repetitive matrix 2

44 variants 44 Health Risk

Upload your DNA to see your personal genotypes for variants in SRRM2.

What This Gene Does

Enables C2H2 zinc finger domain binding activity. Involved in mRNA splicing, via spliceosome. Located in Cajal body and nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in autosomal dominant intellectual developmental disorder 72. Biomarker of Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"NTC associated proteins|Spliceosomal C complex|Spliceosomal P complex"

Locus Type

gene with protein product

Location

16p13.3

Ensembl

ENSG00000167978

Associated Conditions (8)

Inborn genetic diseases

SRRM2-related disorder

Intellectual developmental disorder

autosomal dominant 72

Neurodevelopmental disorder

Status epilepticus

Complex febrile seizure

Seizure

Key Variants

RS1388197341

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS142314036

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS148506290

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS150445530

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS150813518

Conflicting classifications of pathogenicity

Inborn genetic diseases, SRRM2-related disorder, Intellectual developmental disorder

Health Risk

RS199749070

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS2505611160

Conflicting classifications of pathogenicity

Intellectual developmental disorder, autosomal dominant 72, Intellectual developmental disorder

Health Risk

RS370376771

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS549292154

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS755950417

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS764862901

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS766069252

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (44)

RSID	Category	Clinical Significance	Conditions
RS1388197341	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS142314036	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS148506290	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS150445530	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS150813518	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, SRRM2-related disorder, Intellectual developmental disorder
RS199749070	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2505611160	Health Risk	Conflicting classifications of pathogenicity	Intellectual developmental disorder, autosomal dominant 72, Intellectual developmental disorder
RS370376771	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS549292154	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS755950417	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS764862901	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS766069252	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS773735921	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1188022140	Health Risk	Likely pathogenic	SRRM2-related disorder, SRRM2-related disorder
RS1567235879	Health Risk	Likely pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS200668425	Health Risk	Likely pathogenic	—
RS2505588620	Health Risk	Likely pathogenic	—
RS2505591396	Health Risk	Likely pathogenic	SRRM2-related disorder, SRRM2-related disorder
RS2505602121	Health Risk	Likely pathogenic	Intellectual developmental disorder, autosomal dominant 72, Intellectual developmental disorder
RS2505606471	Health Risk	Likely pathogenic	SRRM2-related disorder, SRRM2-related disorder
RS2505614378	Health Risk	Likely pathogenic	Status epilepticus, Complex febrile seizure, Seizure
RS1464581573	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150775947	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150776380	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS2150776534	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS2150776793	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS2150776824	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777403	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777611	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777620	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777933	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS2150778065	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778293	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778741	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778921	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150779172	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS2150779549	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2505588730	Health Risk	Pathogenic	—
RS2505605915	Health Risk	Pathogenic	—
RS2505609700	Health Risk	Pathogenic	Intellectual developmental disorder, autosomal dominant 72, Intellectual developmental disorder
RS747576963	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS760736029	Health Risk	Pathogenic	Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 72
RS764663923	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2505618143	Health Risk	Pathogenic/Likely pathogenic	Intellectual developmental disorder, autosomal dominant 72, Intellectual developmental disorder