MTSS2 Chromosome 16
MTSS I-BAR domain containing 2
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What This Gene Does
Enables GTPase activator activity and small GTPase binding activity. Involved in activation of GTPase activity and cellular response to platelet-derived growth factor stimulus. Located in ruffle membrane. Implicated in intellectual developmental disorder with ocular anomalies and distinctive facial features. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
I-BAR domain containing
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000132613
Associated Conditions (8)
Intellectual developmental disorder with ocular anomalies and distinctive facial features
Iron deposition in globus pallidus
Microcephaly
Intellectual disability
Hypotonia
Global developmental delay
MTSS2-related neurodevelopmental disorder
Syndromic intellectual disability
Key Variants
RS143838443
Conflicting classifications of pathogenicity
Health Risk
RS200666822
Conflicting classifications of pathogenicity
Health Risk
RS201732770
Conflicting classifications of pathogenicity
Health Risk
RS776065067
Conflicting classifications of pathogenicity
Intellectual developmental disorder with ocular anomalies and distinctive facial features, Intellectual developmental disorder with ocular anomalies and distinctive facial features
Health Risk
RS531163149
Likely pathogenic
Iron deposition in globus pallidus, Microcephaly, Intellectual disability
Health Risk
RS753688777
Pathogenic/Likely pathogenic
MTSS2-related neurodevelopmental disorder, Intellectual developmental disorder with ocular anomalies and distinctive facial features, Syndromic intellectual disability
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143838443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200666822 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201732770 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776065067 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with ocular anomalies and distinctive facial features, Intellectual developmental disorder with ocular anomalies and distinctive facial features |
| RS531163149 | Health Risk | Likely pathogenic | Iron deposition in globus pallidus, Microcephaly, Intellectual disability |
| RS753688777 | Health Risk | Pathogenic/Likely pathogenic | MTSS2-related neurodevelopmental disorder, Intellectual developmental disorder with ocular anomalies and distinctive facial features, Syndromic intellectual disability |