유전자
JKAMP
JNK1/MAPK8 associated membrane protein
요약
- 세포유전학적 위치
- 14q23.1
- 좌표
- 염색체 14: 59,484,517–59,505,410 (GRCh38)
- 엑손
- 엑손 7개, 20.9 kb에 걸쳐
- 단백질
- 아미노산 311개
- 다른 이름
- HSPC213, JAMP, HSPC327, CDA06
- 이전 기호
- C14orf100
- MANE Select 전사체
- ENST00000616435.5NM_016475.5
- 유전자좌 유형
- gene with protein product
- Very high
- Confident
- Low
- Very low
기준 게놈GRCh38hg38
유전자 및 변이 페이지의 위치 정보는 이 브라우저에서 선택한 설정을 따릅니다.
이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads JKAMP yet. The test sequences your whole genome, so your data includes it all the same.
JKAMP의 구조
- 코딩 서열
- 비번역 영역
- 인트론
- 전사 방향
- 짧은 리드가 판독하기 어려운 구간
v1.5 릴리스 기준, 이 유전자의 MANE Select 전사체 엑손이며 NCBI와 EMBL-EBI 자료를 바탕으로 하고 GRCh38 참조 게놈에 기반합니다.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
유전자 전체 20.9 kb 중 엑손이 2.3 kb를 차지하며, 이 중 936개의 염기가 단백질을 암호화합니다.
Traits linked to JKAMP
The Human Phenotype Ontology lists these as features of the rare conditions JKAMP can cause. Each trait's page lists the other genes linked to it.
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
Show 38 more traits
- 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
Show 25 more traits
- 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
외부 링크
이 정보의 출처
- HGNC: 유전자의 기호, 명칭, 다른 기호 및 위치입니다.
- NCBI와 EMBL-EBI의 MANE Select v1.5: 전사체, 엑손 및 코딩 서열입니다.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). JKAMP gene: JNK1/MAPK8 associated membrane protein. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/jkamp
Dante Labs. JKAMP gene: JNK1/MAPK8 associated membrane protein [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/jkamp
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