Gen
TRPV4
transient receptor potential cation channel subfamily V member 4
- HGNC 18083(åbnes i en ny fane)
- Ensembl-gen ENSG00000111199(åbnes i en ny fane)
- NCBI Gene 59341(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 12q24.11
- Koordinater
- Kromosom 12: 109.783.089–109.833.398 (GRCh38)
- Exoner
- 16 exoner fordelt over 50,3 kb
- Protein
- 871 aminosyrer
- Også kendt som
- OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C
- MANE Select-transkript
- ENST00000261740.7NM_021625.5
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Sådan er TRPV4 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 3,2 kb af genets 50,3 kb; 2.616 af disse baser koder for proteinet.
Sådan læser en genomtest TRPV4
43
positioner i TRPV4, 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 50,3 kb af TRPV4, inklusive introner, og ikke kun de 3,2 kb eksoner.
Træk knyttet til TRPV4
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, TRPV4 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the musculoskeletal system
- Abnormal enchondral ossification
- Childhood-onset short-trunk short stature
- Cone-shaped end part of bone
- Disease of the joints
- Distal lower limb amyotrophy
- Enlarged joints
- Flaring of rib cage
- Flattened vertebrae
Vis 72 træk mere
- Flexed joint that cannot be straightened
- Generalized osteoporosis
- Hunched back
- Hypoplasia of the odontoid process
- Narrow greater sciatic notch
- Scoliosis
- Spondyloepiphyseal dysplasia
- Abnormal cortical bone morphology
- Abnormal intervertebral disk morphology
- Abnormal skeletal development
- Abnormal vertebral body morphology
- Abnormality of the ribs
- Abnormality of the vertebral column
- Cupped ribs
- Delayed maturation of end part of long bone
- Disproportionate short-trunked short stature
- Distal muscle wasting
- Flared iliac wing
- Halberd-shaped pelvis
- Hypoplastic cervical vertebrae
- Increased vertebral height
- Joint stiffness
- Kyphoscoliosis
- Long rib cage
- Low muscle tone
- Narrow chest
- Nonprogressive muscular atrophy
- Short ribs
- Shorter than typical length between neck and abdomen
- Abnormal development of end part of bone
- Abnormal ilium morphology
- Arthrogryposis multiplex congenita
- Clavicular pseudarthrosis
- Delayed bone maturation
- Hip osteoarthritis
- Human tail
- Limited hip movement
- Premature osteoarthritis
- Squared iliac bones
- Atlantoaxial instability
- Cervical platyspondyly
- Coronal cleft vertebrae
- Excessive inward curvature of lower spine
- Flattended end part of thigh bone
- Increased intervertebral space
- Limb contractures
- Pigeon chest
- Shield chest
- Short greater sciatic notch
- Small joint hypermobility
- Thoracic kyphosis
- Wedge-shaped vertebrae
- Abnormal formation of the hip
- Abnormality of the rib cage
- Absent muscles since birth
- Anisospondyly
- Barrel-shaped chest
- Crescent-shaped iliac bone
- Gowers sign
- Long tailbone
- Muscle fiber splitting
- Muscle weakness between ribs
- Progressive distal muscle weakness
- Progressive distal muscular atrophy
- Prominent swayback
- Relatively short spine
- Rounded shoulders
- Scapuloperoneal amyotrophy
- Spinal muscle degeneration
- Spondylometaphyseal dysplasia
- Weak diaphragm
- Weakness of outermost muscles
Abnormality of limbs
- Avascular necrosis of the capital femoral epiphysis
- Bowing of the long bones
- Brachytelomesophalangy
- Delayed maturation of wrist bone
- Distal lower limb muscle weakness
- Dumbbell shaped wide portion of long bone
- Dumbbell-shaped thighbone
- Flared wide portion of long bone
Vis 66 træk mere
- Knock knees
- Short neck of thighbone
- Short palm
- Abnormal neck or head of thigh bone
- Abnormality of the wide portion of a long bone
- Coarse metaphyseal trabecularization
- Irregular end part of innermost thighbone
- Osteoarthritis of the small joints of the hand
- Short fingers or toes
- Short middle bone of finger
- Short outermost finger bone
- Shortening of all outermost bone of the toes
- Shortening of all the middle bones of the toes
- Smaller or shorter than typical limbs
- Abnormality of the hipbone socket
- Broad wide portion of long bone
- Coxa vara
- Distal upper limb amyotrophy
- Distal upper limb muscle weakness
- Flat acetabular roof
- Flat head of thigh bone
- Irregular wide portion of a long bone
- Left and right leg differ in length or width
- Outward bow-leggedness
- Proximal upper limb amyotrophy
- Proximal upper limb muscle weakness
- Short long bone of foot
- Short toe
- Short tubular bones of the hand
- Small carpal bones
- Abnormality of the radioulnar joints
- Abnormality of the wide portion of the long bone in upper arm
- Absent end part of fingers
- Bowing of outer large bone of the forearm
- Curvature of little finger
- Dropped arches
- Elbow flexion contracture
- Permanent flexion of the finger
- Abnormal feet structure
- Abnormal metaphyseal vascular invasion
- Absent primary metaphyseal spongiosa
- Club feet
- Curvature of digit
- Flared femoral metaphysis
- Flared wide portion of long bone of upper arm
- Foot drop
- Front half of foot turns inward
- Hammertoe
- Hand muscle degeneration
- High-arched foot
- Hip contracture
- Hyperplasia of the femoral trochanters
- Inability to straighten knee
- Irregular acetabular roof
- Irregular, rachitic-like metaphyses
- Peroneal muscle atrophy
- Peroneal muscle weakness
- Proximal femoral metaphyseal irregularity
- Radial deviation of finger
- Scapular muscle atrophy
- Short finger
- Short middle bones (feet)
- Short outermost bone of toe
- Shoulder girdle muscle wasting
- Small hand
- Winged shoulder blade
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.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- 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.). TRPV4-genet: transient receptor potential cation channel subfamily V member 4. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/trpv4
Dante Labs. TRPV4-genet: transient receptor potential cation channel subfamily V member 4 [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/trpv4
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger