유전자
RNU4-2
RNA, U4 small nuclear 2
요약
- 세포유전학적 위치
- 12q24.31
- 좌표
- 염색체 12: 120,291,759–120,291,903 (GRCh38)
- 엑손
- 엑손 1개, 0.1 kb에 걸쳐
- 다른 이름
- U4c, U4b, U4A
- 이전 기호
- RNU4C, RNU4-1B, RNU4B1
- MANE Select 전사체
- ENST00000365668.2NR_003137.3
- 유전자좌 유형
- RNA, small nuclear
기준 게놈GRCh38hg38
유전자 및 변이 페이지의 위치 정보는 이 브라우저에서 선택한 설정을 따릅니다.
이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads RNU4-2 yet. The test sequences your whole genome, so your data includes it all the same.
RNU4-2의 구조
- 비번역 영역
- 인트론
- 전사 방향
- 알려진 질병 유발 부위
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 0.1 kb 중 엑손이 0.1 kb를 차지합니다.
전장 유전체 검사가 RNU4-2 유전자를 읽는 방법
22
RNU4-2 내 위치 중 ClinVar가 병원성 또는 가능성 높은 병원성으로 분류하는 위치
이 중 어느 곳도 짧은 리드가 판독하기 어려운 구간에 있지 않습니다.
전장 유전체 검사는 인트론을 포함해 RNU4-2의 전체 0.1kb를 모두 포함하며, 엑손 0.1kb만 보는 것이 아닙니다.
Traits linked to RNU4-2
The Human Phenotype Ontology lists these as features of the rare conditions RNU4-2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Progressively abnormally small cranium
- Decreased facial muscle tone
- Eye folds
- Full lips
- High palate
- Narrow palate
- Open mouth
Show 60 more traits
- Small head present at birth
- Tented mouth
- Tented philtrum
- Abnormally large tongue
- Almond shaped eyes
- Broad nasal tip
- Cleft nasal tip
- Depressed nasal bridge
- Development of small head that was not present at birth
- Drooling
- Enlarged cisterna magna
- Full cheeks
- High forehead
- Horizontal eyebrow
- Little lower jaw
- Long eyelashes
- Long face
- Low hanging columella
- Lower eyelid folded out
- Narrow forehead
- Narrow opening between the eyelids
- Nasal tip, upturned
- Protruding tongue
- Receding chin
- Short philtrum
- Thickened skin folds of neck
- Triangular face
- Abnormal dental position
- Bifid uvula
- Broad head shape
- Bulbous nose
- Carp-like mouth
- Corners of eye widely separated
- Deep philtrum
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Eversion of lateral third of lower eyelids
- Facial asymmetry
- Flat back of skull
- Flat face
- Full lower lip
- Long neck
- Narrow eyelid opening
- Narrow mouth
- Narrow nose
- Opacified paranasal sinuses
- Prominent metopic ridge
- Prominent nasal bridge
- Scaphocephaly
- Short chin
- Short neck
- Short nose
- Sloping forehead
- Smooth philtrum
- Thin red part of the upper lip
- Triangular-shaped open mouth
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Wide mouth
- Wide nasal bridge
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- Abnormal gait
- Anxiety
- Brain degeneration
- Degeneration of cerebrum
- Delayed speech and language development
- Gliosis
- Global developmental delay
Show 53 more traits
- Gray matter heterotopia
- Intellectual disability
- Motor delay
- Restricted or repetitive behaviors or interests
- Self-injurious behavior
- Sensory seeking
- Thin corpus callosum
- Absent speech development
- Delayed ability to walk
- Intellectual disability, severe
- Short attention span
- Absent/small cerebral white matter
- Autism spectrum disorder
- Epilepsy
- Periventricular heterotopia
- Repetitive movements
- Severe global developmental delay
- Aggressive behavior
- Arachnoid granulation
- Cerebral palsy
- Clonus
- Colpocephaly
- Delayed CNS myelination
- Difficulty sleeping
- Hippocampal atrophy
- Inability to walk
- IQ between 34 and 49
- Irritability
- Moderate global developmental delay
- Motor axonal neuropathy
- Reduced cerebral white matter volume
- Self-biting
- Underdevelopment of part of brain called corpus callosum
- Unsteady walk
- Ventriculomegaly
- Ataxia
- Bipolar disorder
- Cavum septum pellucidum
- Chiari malformation
- Choreoathetosis
- Communicating hydrocephalus
- Dystonia
- Eye poking
- Fewer or absent grooves in brain
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized brain degeneration
- Hyperintensity of cerebral white matter on MRI
- Obsessive compulsive behavior
- Periventricular leukomalacia
- Periventricular nodular heterotopia
- Pica
- Social anxiety
- Wide based walk
Abnormality of the eye
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
Show 28 more traits
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Astigmatism
- Bulging cornea
- Cross-eyed
- Cystoid macular edema
- Difficulties with night vision
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Abnormally close eyes
- Blue outer white part of eyeball
- Close sighted
- Decreased clarity of vision
- Farsightedness
- Increased size of eyes
- Optic nerve hypoplasia
- Photopsia
- Deeply set eye
- Wide-set eyes
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.
- ClinVar와 GIAB 층화 자료: 알려진 질병 유발 부위와 짧은 리드(short read)로 분석하기 어려운 영역입니다.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- 데이터 릴리스 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RNU4-2 gene: RNA, U4 small nuclear 2. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/rnu4-2
Dante Labs. RNU4-2 gene: RNA, U4 small nuclear 2 [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/rnu4-2
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