FKBP6 (FKBP prolyl isomerase family member 6 (inactive))

2015-02-01  

Identity

HGNC
FKBP6
LOCATION
7q11.23
LOCUSID
8468
ALIAS
FKBP36
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8468
MIM: 604839
HGNC: 3722
Ensembl: ENSG00000077800

Variants:

dbSNP: 8468
ClinVar: 8468
TCGA: ENSG00000077800
COSMIC: FKBP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077800ENST00000252037O75344
ENSG00000077800ENST00000413573O75344
ENSG00000077800ENST00000429879F8WD36
ENSG00000077800ENST00000431982O75344
ENSG00000077800ENST00000442793C9JM01
ENSG00000077800ENST00000445032F8WD38
ENSG00000077800ENST00000648538A0A3B3IST2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Gene Silencing by RNAREACTOMER-HSA-211000
PIWI-interacting RNA (piRNA) biogenesisREACTOMER-HSA-5601884
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203786152010Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.40
173079192007Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.10
173079192007Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.10
190013792009FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.7
162273482005Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.6
242411652014Genome-wide methylation profiling reveals Zinc finger protein 516 (ZNF516) and FK-506-binding protein 6 (FKBP6) promoters frequently methylated in cervical neoplasia, associated with HPV status and ethnicity in a Chilean population.6
185290142008FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes.5
156964702005[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].1
156964702005[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].1

Citation

Dessen P

FKBP6 (FKBP prolyl isomerase family member 6 (inactive))

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54970/fkbp6