Gene
FKBP6
FKBP prolyl isomerase family member 6 (inactive)
- HGNC 3722(opens in a new tab)
- Ensembl gene ENSG00000077800(opens in a new tab)
- NCBI Gene 8468(opens in a new tab)
Summary
- Cytogenetic location
- 7q11.23
- Coordinates
- Chromosome 7: 73,328,161–73,358,625 (GRCh38)
- Exons
- 9 exons across 30.5 kb
- Protein
- 327 amino acids
- Also known as
- PPIase, FKBP36
- MANE Select transcript
- ENST00000252037.5NM_003602.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Male Infertility
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
- 1 GenCC submitter rates it definitive or strong
How FKBP6 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.7 kb of the gene's 30.5 kb; 984 of those bases code for the protein.
How a genome test reads FKBP6
5
positions in FKBP6 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 30.5 kb of FKBP6, introns included, not only the 1.7 kb of exons.
Traits linked to FKBP6
The Human Phenotype Ontology lists these as features of the rare conditions FKBP6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormality of the neck
- Abnormally large tongue
- Broad forehead
- Coarse facial features
- Drooping lower lip
- Elf-like facial appearance
- Eye folds
- Full lower lip
Show 22 more traits
- High forehead
- Little lower jaw
- Long philtrum
- Narrow face
- Narrow opening between the eyelids
- Open bite
- Periorbital edema
- Pointed chin
- Short nose
- Wide mouth
- Wide nasal bridge
- Abnormal tooth enamel
- Abnormality of dental shape
- Abnormally small head
- Bad bite
- Cheekbone underdevelopment
- Decreased size of tooth
- Failure of development of between one and six teeth
- Dental cavities
- Gum enlargement
- Increased nuchal translucency
- Retinal arteriolar tortuosity
Abnormality of the nervous system
- Abnormal gait
- Abnormal shape of nervous system
- Abnormal social behavior
- Abnormal speech pattern
- Abnormality of balance
- Abnormality of extrapyramidal motor function
- Anxiety
- Ataxia
Show 21 more traits
- Depression
- Dysgraphia
- Fear of loud sounds
- Hyperacusis
- Increased reflexes
- Intellectual disability
- Involuntary movements
- Lack of coordination of movement
- Overfriendliness
- Tremor
- Attention deficit
- Autism
- Difficulty staying or falling asleep
- Obsessive compulsive behavior
- Abnormal diencephalon morphology
- Atrophy/Degeneration involving the corticospinal tracts
- Chiari malformation
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Difficulty articulating speech
- Loss of developmental milestones
- Spina bifida occulta
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- Abnormality of the cerebral blood vessels
- Disruption of blood oxygen supply to brain
- High blood pressure
- Mitral regurgitation
- Mitral valve prolapse
- Narrowing of an artery
- Narrowing of peripheral lung artery
Show 19 more traits
- Narrowing of pulmonic valve
- Renovascular hypertension
- Stroke
- Supravalvular aortic stenosis
- Abnormal cardiac septum morphology
- Abnormal carotid artery morphology
- Abnormal endocardium morphology
- An opening in the wall separating the top two chambers of the heart
- Aortic arch aneurysm
- Aortic valve has two leaflets rather than three
- Cardiac failure
- Enlarged and thickened heart muscle
- Enlarged heart
- Heart attack
- Hole in heart wall separating two lower heart chambers
- Overriding aorta
- Patent ductus arteriosus
- Sudden cardiac death
- Tetralogy of Fallot
Abnormality of the genitourinary system
- Male infertility
- Low sperm count
- Abnormality of the bladder
- Multiflagellar spermatozoa
- Pelvic kidney
- Renal failure
- Undescended testes
- Abnormal tubulointerstitial morphology
Show 12 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FKBP6 gene: FKBP prolyl isomerase family member 6 (inactive). Retrieved 17 October 2026, from https://dantelabs.com/genes/fkbp6
Dante Labs. FKBP6 gene: FKBP prolyl isomerase family member 6 (inactive) [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fkbp6
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