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GEMIN2

Synonyms
SIP1, SIP1-delta
External resources
Summary
This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
6,906
Likely benign
3,107
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on GEMIN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
44.4%
Abnormality of blood and blood-forming tissues
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the eye
22.2%
Growth abnormality
22.2%
Abnormality of head or neck
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the nervous system
11.1%
Abnormality of the respiratory system
11.1%
Constitutional symptom
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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