Gen
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
- HGNC 19835↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000139915↗(åbnes i en ny fane)
- NCBI Gene 161357↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 14q21.3
- Koordinater
- Kromosom 14: 46.840.092–47.675.605 (GRCh38)
- Exoner
- 17 exoner fordelt over 835,5 kb
- Protein
- 1.025 aminosyrer
- Tidligere symboler
- MAMDC1
- MANE Select-transkript
- ENST00000399232.8NM_001113498.3
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Sådan er MDGA2 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 5,7 kb af genets 835,5 kb; 3.078 af disse baser koder for proteinet.
Træk knyttet til MDGA2
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, MDGA2 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Absent speech development
- Atypical absence seizure
- Brain degeneration
- Brisk reflexes
- Clonic seizure
- Delayed ability to walk
- Delayed CNS myelination
- Delayed speech and language development
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- Encephalopathy
- Epilepsy
- Intellectual disability
- Intellectual disability, severe
- Interictal EEG abnormality
- Involuntary movements
- Irritability
- Jerking
- More active than typical
- Motor delay
- Severe global developmental delay
- Small basal ganglia
- Bilateral tonic-clonic seizure with focal onset
- Delayed ability to sit
- Reduced cerebral white matter volume
- Small hippocampus
- Abnormality of coordination
- Bilateral tonic-clonic seizure with generalized onset
- Decreased reflex response
- Degeneration of cerebrum
- Difficulty sleeping
- EEG with multifocal slow activity
- Epileptic spasm
- Global developmental delay
- Hippocampal atrophy
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Myoclonic seizure
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Abnormal corpus callosum morphology
- Abnormal diffusion weighted cerebral MRI morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Continuous spike and waves during slow sleep
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- EEG with abnormally slow frequencies
- EEG with burst suppression
- Hypsarrhythmia
- Impulsivity
- Lateral ventricle dilatation
- Mental deterioration
- Sudden loss of muscle tone
- Tonic seizure
- Tremor
- Unsteady walk
Abnormality of head or neck
- Weakness of facial musculature
- Wide nasal bridge
- Development of small head that was not present at birth
- Highly arched eyebrow
- Tented mouth
- High forehead
- High frontal hairline
- Long lower eyelashes
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- Narrow forehead
- Short philtrum
- Thin eyebrow
- Upward slanting of the opening between the eyelids
- Abnormally small head
- Big maxilla
- Bulbous nose
- Decreased volume of lower lip
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Enlarged cisterna magna
- Eye folds
- Failure of development of between one and six teeth
- Frontal bossing
- High palate
- Long eyelashes
- Long face
- Long, narrow head
- Medial flaring of the eyebrow
- Parietal bossing
- Prominent forehead
- Smooth philtrum
- Underdeveloped tissue around nostril
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
Citér denne side
Dante Labs. (u.d.). MDGA2-genet: MAM domain containing glycosylphosphatidylinositol anchor 2. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/mdga2
Dante Labs. MDGA2-genet: MAM domain containing glycosylphosphatidylinositol anchor 2 [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/mdga2
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