유전자
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
요약
- 세포유전학적 위치
- 6p21.32
- 좌표
- 염색체 6: 32,578,775–32,589,848 (GRCh38)
- 엑손
- 엑손 6개, 11.1 kb에 걸쳐
- 단백질
- 아미노산 266개
- 이전 기호
- HLA-DR1B
- MANE Select 전사체
- ENST00000360004.6NM_002124.4
- 유전자좌 유형
- gene with protein product
- Very high
- Confident
- Low
- Very low
이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads HLA-DRB1 yet. The test sequences your whole genome, so your data includes it all the same.
HLA-DRB1의 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 11.1 kb 중 엑손이 1.2 kb를 차지하며, 이 중 801개의 염기가 단백질을 암호화합니다.
전장 유전체 검사가 HLA-DRB1 유전자를 읽는 방법
1
HLA-DRB1 내 위치 중 ClinVar가 병원성 또는 가능성 높은 병원성으로 분류하는 위치
이 중 1곳(100%)은 짧은 리드가 판독하기 어려운 구간에 있습니다.
- MHC (1곳)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.
- Segmental duplications (1곳)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
전장 유전체 검사는 인트론을 포함해 HLA-DRB1의 전체 11.1kb를 모두 포함하며, 엑손 1.2kb만 보는 것이 아닙니다.
Traits linked to HLA-DRB1
The Human Phenotype Ontology lists these as features of the rare conditions HLA-DRB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cataplexy
- Cognitive impairment
- CSF pleocytosis
- Difficulty sleeping
- Difficulty staying or falling asleep
- Excessive daytime sleepiness
- Hallucinations
- Headache
Show 28 more traits
- Transient global amnesia
- Abnormal rapid eye movement sleep
- Anxiety
- Attention deficit
- Depression
- Hypnagogic hallucination
- Hypnopompic hallucination
- NREM parasomnia
- Willis-Ekbom disease
- Abnormal cerebrospinal fluid morphology
- Ataxia
- Behavioral abnormality
- Difficulty articulating speech
- Difficulty finding words
- Epilepsy
- Migraine
- Pauses in breathing while sleeping
- Peripheral neuropathy
- Pins and needles feeling
- Restlessness
- Sleep paralysis
- Slurred speech
- Visual hallucinations
- Chorea
- Psychosis
- Can't control feelings
- CNS demyelination
- Incoordination
Abnormality of the cardiovascular system
- Disruption of blood oxygen supply to brain
- Hives
- Inflammation of blood vessel
- Redness of skin or mucous membrane
- Swollen lymph nodes
- Swollen lymph nodes in center of chest
- Abnormal systemic blood pressure
- Foam cells
Show 26 more traits
- High blood pressure
- Increased spleen size
- Jaw pain while chewing
- Mucosal telangiectasiae
- Raynaud phenomenon
- Telangiectasia of the skin
- Abdominal aortic aneurysm
- Abnormal cardiac ventricular function
- Abnormal heart rate
- Abnormal lymph node histology
- Absent superficial temporal artery pulse
- Cardiac failure
- Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
- Fainting spell
- Heart block
- Hypertensive crisis
- Increased blood pressure in blood vessels of lungs
- increased pulmonary artery pressure
- Livedo reticularis
- Portal hypertension
- Sudden cardiac death
- Swelling or irritation of membrane around heart
- Tear in inner wall of large artery that carries blood away from heart
- Ventricular tachycardia
- Fluid around heart
- Generalized swelling of lymph nodes
Abnormality of the eye
- Abnormal pupillary function
- Blurred vision
- Chorioretinal hypopigmentation
- Clouding of the lens of the eye
- High eye pressure
- Iridocyclitis
- Posterior subcapsular cataract
- Retinal detachment
Show 22 more traits
- Retinal nerve fiber edema
- Uveitis
- Visual impairment
- Weakness of muscles controlling eye movement
- Amaurosis fugax
- Anterior uveitis
- Blindness
- Corneal keratic precipitates
- Dalen-Fuchs nodules
- Damaged optic nerve
- Double vision
- Drooping upper eyelid
- Extreme sensitivity of the eyes to light
- Glaucoma
- Increased tears
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Partial loss of field of vision
- Posterior synechiae of the anterior chamber
- Visual loss
- Noninflammatory retina disease
- Chorioretinitis
Abnormality of the immune system
- Antinuclear antibody positivity
- Autoimmunity
- Eczema
- Recurrent infections
- Skin rash
- Anti-BP180 antibody positivity
- Anti-BP230 antibody positivity
- Anti-complement component C1q antibody positivity
Show 22 more traits
- Anti-ribosome Po antibody positivity
- Anti-titin antibody positivity
- Antineutrophil antibody positivity
- Autoimmune antibody positivity
- Decreased circulating complement C3 concentration
- Decreased circulating complement C4 concentration
- Erythema nodosum
- Increased circulating interleukin 6 concentration
- Malar rash
- Psoriasiform dermatitis
- Anti-dsDNA antibody positivity
- Anti-La/SS-B antibody positivity
- Anti-nucleoporin 62 antibody positivity
- Anti-phosphatidic acid antibody positivity
- Anti-Ro52/TRIM21 antibody positivity
- Anti-Sm antibody positivity
- Anti-U1 ribonucleoprotein antibody positivity
- Discoid lupus rash
- Maculopapular exanthema
- Meningitis
- Non-infectious meningitis
- Serositis
Abnormality of head or neck
- Abnormal eyelashes
- Abnormality of the eyebrow
- Chewing difficulties
- Sparse scalp hair
- Conjunctival hyperemia
- Decreased salivary flow
- Dental cavities
- Drooling
Show 18 more traits
- Nuchal rigidity
- Abnormal color of the oral mucosa
- Abnormal conjunctiva morphology
- Abnormality of mucosa of nose
- Abnormality of salivation
- Bell's palsy
- Dacryocystitis
- Dry eye syndrome
- Enlarged tear gland
- Enlargement of parotid gland
- Inflammation of the lips
- Inflammation of the tongue
- Mouth sore
- Oral mucosal blisters
- Parotitis
- Recurrent sore throat
- Scalp tenderness
- Abnormality of the salivary glands
Abnormality of the respiratory system
- Breathing difficulty
- Intraalveolar phospholipid accumulation
- Lung infiltrates
- Abnormal pleura morphology
- Abnormality of lung structure
- Abnormality of the upper respiratory tract
- Cough
- Decreased DLCO
Show 14 more traits
- Low blood oxygen level
- Pulmonary scarring
- Stiff lung or chest wall causing decreased lung volume
- Collapsed lung
- Crackles
- Crazy paving pattern
- Dry cough
- Emphysema
- Permanent enlargement of the airways of the lungs
- Upper airway obstruction
- Coughing up blood
- Mediastinal mass
- Abnormality in area between air sacs in lung
- Elevated bronchoalveolar lavage fluid lymphocyte proportion
Laboratory abnormality
- Diabetes mellitus
- Elevated circulating C-reactive protein concentration
- Fever
- High ESR
- High urine protein levels
- Joint swelling
- Blood in urine
- Blood protein disease
Show 13 more traits
- Elevated circulating alpha-globulin concentration
- Elevated circulating calprotectin concentration
- Elevated circulating osteopontin concentration
- Fluid around lungs
- High urine neutrophil count
- Increased circulating lactate dehydrogenase concentration
- Chylothorax
- Elevated serum ferritin
- Elevated urine calcium levels
- High blood calcium levels
- Increased CSF protein concentration
- Swelling caused by excess lymph fluid under skin
- Hypothermia
Abnormality of the digestive system
- Acid reflux
- Anorexia
- Constipation
- Decreased liver function
- Malabsorption
- Nausea and vomiting
- Poor swallowing
- Abdominal pain
Show 10 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.). HLA-DRB1 gene: major histocompatibility complex, class II, DR beta 1. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/hla-drb1
Dante Labs. HLA-DRB1 gene: major histocompatibility complex, class II, DR beta 1 [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/hla-drb1
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