Gen
MAU2
MAU2 sister chromatid cohesion factor
- HGNC 29140↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000129933↗(åbnes i en ny fane)
- NCBI Gene 23383↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 19p13.11
- Koordinater
- Kromosom 19: 19.320.829–19.358.754 (GRCh38)
- Exoner
- 19 exoner fordelt over 37,9 kb
- Protein
- 613 aminosyrer
- Også kendt som
- MGC75361, mau-2, MAU2L, SCC4
- Tidligere symboler
- KIAA0892
- MANE Select-transkript
- ENST00000262815.13NM_015329.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
Læs MAU2 og resten af dit genom med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome TestKurerede rapporter relevant for dette gen
Ingen Genome Test-rapport læser MAU2 endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er MAU2 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- 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 4,8 kb af genets 37,9 kb; 1.842 af disse baser koder for proteinet.
Sådan læser en genomtest MAU2
8
positioner i MAU2, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 37,9 kb af MAU2, inklusive introner, og ikke kun de 4,8 kb eksoner.
Træk knyttet til MAU2
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, MAU2 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of head or neck
- Decreased volume of lip
- Delayed eruption of baby teeth
- Delayed eruption of permanent teeth
- Delayed loss of baby teeth
- Hairy forehead
- High palate
- Little lower jaw
- Low hairline at back of neck
Vis 43 træk mere
- Prominent nose
- Recurrent sinus disease
- Abnormally small head
- Broad head shape
- Curly eyelashes
- Delayed eruption of teeth
- Depressed nasal bridge
- Downturned corners of mouth
- Highly arched eyebrow
- Long eyelashes
- Long philtrum
- Low frontal hairline
- Monobrow
- Nasal tip, upturned
- Short neck
- Short nose
- Thick eyebrow
- Widely spaced teeth
- Inflammation of eyelids
- Small head present at birth
- Smooth philtrum
- Thin red part of the upper lip
- Triangular face
- Blockage of the rear opening of the nasal cavity
- Both sided cleft lip
- Broad nasal tip
- Central cleft palate
- Cleft palate
- Coarse facial features
- Decreased size of tooth
- Empty sella turcica
- Flat face
- Frontal bossing
- Full lower lip
- Increased nuchal translucency
- Macrodontia of permanent maxillary central incisor
- Oval face
- Right and left cleft palate
- Round face
- Small face
- Thick nasal alae
- Upward slanting of the opening between the eyelids
- Wide mouth
Abnormality of the nervous system
- Abnormality of balance
- Anxiety
- Ataxia
- Attention deficit
- Communication delay
- Depression
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
Vis 29 træk mere
- Disorder of involuntary muscle movements
- Frequent temper tantrums
- Jerking
- More active than typical
- Motor delay
- Tremor
- Abnormally low-pitched voice
- Intellectual disability
- Intellectual disability, severe
- Abnormal speech pattern
- Delayed ability to sit
- Delayed speech and language development
- Difficulty sleeping
- Intellectual disability, mild
- Obsessive compulsive behavior
- Specific learning disability
- Absent/small cerebellum
- Autism
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed ability to walk
- Epilepsy
- Fluid-filled cyst in spinal cord
- Intellectual disability, borderline
- IQ between 34 and 49
- Loss of developmental milestones
- Peripheral neuropathy
- Periventricular cysts
- Thin corpus callosum
- Ventriculomegaly
Abnormality of the genitourinary system
- Hydronephrosis
- Primary amenorrhea
- Undescended testes
- Vesicoureteral reflux
- Hypospadias
- Multicystic kidney dysplasia
- Small labia majora
- Underdeveloped penis
Vis 2 træk mere
Abnormality of the musculoskeletal system
- Funnel chest
- Involuntary muscle stiffness, contraction, or spasm
- Low muscle tone
- Scoliosis
- Delayed bone maturation
- Spasticity and rigidity of muscles
- Joint stiffness
- Abnormal formation of the hip
Vis 2 træk mere
Abnormality of the ear
- Dizziness
- Absent ear canal
- Conductive deafness
- Ears rotated toward back of head
- Sensorineural hearing impairment
- Hearing impairment
- Large ears
- Low-set ears
Vis 1 træk mere
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.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). MAU2-genet: MAU2 sister chromatid cohesion factor. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/mau2
Dante Labs. MAU2-genet: MAU2 sister chromatid cohesion factor [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/mau2
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger