Gen
JKAMP
JNK1/MAPK8 associated membrane protein
- HGNC 20184↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000050130↗(åbnes i en ny fane)
- NCBI Gene 51528↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 14q23.1
- Koordinater
- Kromosom 14: 59.484.517–59.505.410 (GRCh38)
- Exoner
- 7 exoner fordelt over 20,9 kb
- Protein
- 311 aminosyrer
- Også kendt som
- HSPC213, JAMP, HSPC327, CDA06
- Tidligere symboler
- C14orf100
- MANE Select-transkript
- ENST00000616435.5NM_016475.5
- 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 JKAMP 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 2,3 kb af genets 20,9 kb; 936 af disse baser koder for proteinet.
Træk knyttet til JKAMP
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, JKAMP kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Abnormal gait
- Absent speech development
- Aggressive behavior
- Astrocytosis
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with generalized onset
- Delayed ability to stand
- Delayed ability to walk
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- Delayed speech and language development
- Difficulty falling asleep
- Difficulty sleeping
- EEG with focal sharp slow waves
- EEG with spike-wave complexes
- Encephalopathy
- Epilepsy
- Falls
- Febrile seizure (within the age range of 3 months to 6 years)
- Febrile status epilepticus
- Global developmental delay
- Happy demeanor
- Inability to coordinate movements when walking
- Intellectual disability
- Intellectual disability, severe
- IQ less than 20
- Jerking
- Loss of brain cells
- More active than typical
- Motor delay
- Myoclonic seizure
- Poor eye contact
- Profound global developmental delay
- Reduced cerebral white matter volume
- Repeated seizures without recovery between them
- Severe global developmental delay
- Stereotypical hand wringing
- Toe walking
- Unsteady walk
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebrum
- Delayed CNS myelination
- Generalized brain degeneration
- Loss of developmental milestones
- Choroid plexus cyst
- CNS demyelination
- Diffuse cerebral atrophy
- Extra-axial cerebrospinal fluid accumulation
Abnormality of head or neck
- Abnormal facial shape
- Abnormally small head
- Big calvaria
- Broad nasal tip
- Bulbous nose
- Coarse facial features
- Decreased size of nasal tip
- Depressed nasal bridge
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- Development of small head that was not present at birth
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Eye folds
- Flat back of skull
- Full cheeks
- High, narrow palate
- Highly arched eyebrow
- Little lower jaw
- Long eyelashes
- Long philtrum
- Low frontal hairline
- Low hairline at back of neck
- Monobrow
- Narrow forehead
- Nasal tip, upturned
- Receding chin
- Round face
- Short nose
- Short philtrum
- Sloping forehead
- Smooth philtrum
- Thick eyebrow
- Wide nasal bridge
- Widely spaced teeth
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.). JKAMP-genet: JNK1/MAPK8 associated membrane protein. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/jkamp
Dante Labs. JKAMP-genet: JNK1/MAPK8 associated membrane protein [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/jkamp
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