유전자
MYH3
myosin heavy chain 3
요약
- 세포유전학적 위치
- 17p13.1
- 좌표
- 염색체 17: 10,628,532–10,657,309 (GRCh38)
- 엑손
- 엑손 41개, 28.8 kb에 걸쳐
- 단백질
- 아미노산 1,940개
- 다른 이름
- MYHC-EMB, MYHSE1, HEMHC, SMHCE
- MANE Select 전사체
- ENST00000583535.6NM_002470.4
- 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 MYH3 yet. The test sequences your whole genome, so your data includes it all the same.
MYH3의 구조
- 코딩 서열
- 비번역 영역
- 인트론
- 전사 방향
- 알려진 질병 유발 부위
- 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 28.8 kb 중 엑손이 6 kb를 차지하며, 이 중 5,823개의 염기가 단백질을 암호화합니다.
전장 유전체 검사가 MYH3 유전자를 읽는 방법
38
MYH3 내 위치 중 ClinVar가 병원성 또는 가능성 높은 병원성으로 분류하는 위치
이 중 1곳(2.6%)은 짧은 리드가 판독하기 어려운 구간에 있습니다.
- Low mappability (1곳)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
전장 유전체 검사는 인트론을 포함해 MYH3의 전체 28.8kb를 모두 포함하며, 엑손 6kb만 보는 것이 아닙니다.
Traits linked to MYH3
The Human Phenotype Ontology lists these as features of the rare conditions MYH3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Dental crowding
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Flat face
- Little lower jaw
- Long philtrum
- Narrow mouth
- Pursed lips
Show 36 more traits
- Short neck
- Short nose
- Wide nasal bridge
- Abnormal dentition
- Dimple chin
- Flat nose
- Restricted neck mobility due to contractures
- Underdeveloped tissue around nostril
- Webbed neck
- Abnormality of the eyelid
- Abnormally small head
- Cleft nostril
- Cleft of the mouth
- Corners of eye widely separated
- Eye folds
- Facial asymmetry
- High palate
- Long face
- Long nasal bridge
- Narrow face
- Pointed chin
- Thin dental enamel
- Abnormality of the tongue
- Cleft palate
- Deformity of the skull
- Frontal bossing
- Long, narrow head
- Low hairline at back of neck
- Big lower jaw
- Chin with H-shaped crease
- Expressionless face
- Narrow opening between the eyelids
- Prominent forehead
- Triangular face
- Whistling appearance
- Zygomatic flattening
Abnormality of limbs
- Club feet
- Flexion contracture of finger
- Inward turned thumb
- Overlapping toe
- Rocker bottom foot
- Ulnar deviation of the hand
- Aplasia/Hypoplasia of the radius
- Bilateral single transverse palmar creases
Show 24 more traits
- Finger bends toward pinky
- Finger syndactyly
- Fused finger bones
- Overlapping fingers
- Permanent flexion of the finger
- Wrist flexion contracture
- Abnormal feet structure
- Absent phalangeal crease
- Elbow flexion contracture
- Fused ankle bones
- Fused wrist bones
- Hip contracture
- Inability to straighten knee
- Talipes
- Ulnar deviation of the wrist
- Absent palm lines
- Delayed maturation of wrist bone
- Dropped arches
- Webbed fingers
- Bunion
- Flexion contracture of toe
- Hip dislocation
- Joint contracture of the hand
- Ulnar deviation of the hand or of fingers of the hand
Abnormality of the musculoskeletal system
- Flexed joint that cannot be straightened
- Fused thoracic vertebrae
- Permanent flexion of the finger or toe
- Scoliosis
- Abnormality of the sternum
- Funnel chest
- Joint stiffness
- Limitation of joint mobility
Show 23 more traits
- Abnormality of the hip bone
- Abnormally shaped skeletal
- Arthrogryposis multiplex congenita
- Elbow contracture
- Excessive inward curvature of lower spine
- Fused neck
- Intervertebral space narrowing
- Pigeon chest
- Vertebral fusion
- Vertebral segmentation defect
- Cervical spinal canal stenosis
- Delayed bone maturation
- Displacement of one backbone compared to another
- Hernia
- Joint dislocation
- Muscle degeneration
- Recurrent fractures
- Rib fusion
- Barrel-shaped chest
- Kyphoscoliosis
- Missing part of vertebrae
- Muscle weakness
- Shoulder flexion contracture
Abnormality of the nervous system
- Motor delay
- Abnormal speech pattern
- Abnormality of movement
- Abnormal gait
- Cognitive impairment
- Spina bifida occulta
- Abnormal auditory evoked potentials
- Degeneration of cerebellum
Show 2 more traits
외부 링크
단백질
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.). MYH3 gene: myosin heavy chain 3. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/myh3
Dante Labs. MYH3 gene: myosin heavy chain 3 [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/myh3
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