FKBP14 Chromosome 7
FKBP prolyl isomerase 14
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What This Gene Does
The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"EF-hand domain containing|FKBP prolyl isomerase family"
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000106080
Associated Conditions (11)
Ehlers-Danlos syndrome
kyphoscoliotic type
2
Cardiovascular phenotype
FKBP14-related disorder
Cervical cancer
Congenital muscular dystrophy
Pes valgus
Hypotonia
Thoracolumbar scoliosis
Joint hypermobility
Key Variants
RS542254849
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS747381671
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS753775062
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS757164371
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS762279651
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS763069544
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS763168158
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS1583734485
Likely pathogenic
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS747353360
Likely pathogenic
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS758622304
Likely pathogenic
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS775594340
Likely pathogenic
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
RS1430849353
Pathogenic
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS542254849 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS747381671 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS753775062 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS757164371 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS762279651 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS763069544 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS763168158 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1583734485 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS747353360 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS758622304 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS775594340 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1430849353 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1562840744 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1583725395 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1583738732 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS1790069483 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS2127949580 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS2127950876 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS770271683 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS542489955 | Health Risk | Pathogenic/Likely pathogenic | Congenital muscular dystrophy, Pes valgus, Hypotonia |
| RS753355121 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| RS778176957 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Ehlers-Danlos syndrome, kyphoscoliotic type |