FKBP5

FKBP prolyl isomerase 5, the group of Tetratricopeptide repeat domain containing|FKBP prolyl isomerases|MicroRNA protein coding host genes

Basic information

Region (hg38): 6:35573584-35728583

Links

ENSG00000096060 ∙ NCBI:2289 ∙ OMIM:602623 ∙ HGNC:3721 ∙ Uniprot:Q13451 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FKBP5 gene.

• Inborn genetic diseases (15 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	14	2	3

Variants in FKBP5

This is a list of pathogenic ClinVar variants found in the FKBP5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-35574699-C-A			Benign (Jan 18, 2019)
6-35575854-T-C		not specified	Uncertain significance (Nov 29, 2021)
6-35575888-T-C		not specified	Uncertain significance (Dec 21, 2022)
6-35575900-C-A			Likely benign (Sep 19, 2018)
6-35575930-T-C		not specified	Uncertain significance (Nov 21, 2022)
6-35575942-C-T		not specified	Uncertain significance (Dec 15, 2023)
6-35577044-G-A		not specified	Uncertain significance (Sep 22, 2022)
6-35577081-C-T		not specified	Uncertain significance (Aug 12, 2021)
6-35580202-G-A		not specified	Uncertain significance (Jun 01, 2023)
6-35591140-C-T		not specified	Uncertain significance (Dec 21, 2022)
6-35591162-T-C		not specified	Uncertain significance (Dec 08, 2023)
6-35607710-G-A		Susceptibility to severe depressive disorder	Likely risk allele (Jul 01, 2022)
6-35611598-A-C		Susceptibility to severe depressive disorder	Likely risk allele (Jul 01, 2022)
6-35619125-G-A		not specified	Uncertain significance (Jan 10, 2023)
6-35619178-T-G		not specified	Uncertain significance (Jun 16, 2023)
6-35620178-G-T		not specified	Uncertain significance (Apr 13, 2022)
6-35620218-A-G		not specified	Uncertain significance (Nov 10, 2021)
6-35637066-C-A		not specified	Uncertain significance (Jun 29, 2023)
6-35637134-C-T		not specified	Uncertain significance (May 23, 2023)
6-35637157-A-G		not specified	Uncertain significance (Nov 21, 2023)
6-35639490-T-G		Asthma	risk factor (Jun 20, 2019)
6-35639794-T-C		Post-traumatic stress disorder	Likely risk allele (-)
6-35639794-T-T		Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to • Antidepressant drug treatment, accelerated response to	drug response; risk factor (Dec 01, 2004)
6-35640178-C-T			Benign (Jul 15, 2020)
6-35642728-C-A		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FKBP5	protein_coding	protein_coding	ENST00000536438	10	154999

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.734	0.266	125733	0	12	125745	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.62	179	251	0.713	0.0000129	3020
Missense in Polyphen		35	73.116	0.47869		838
Synonymous	0.705	82	90.5	0.906	0.00000511	808
Loss of Function	3.54	4	21.9	0.183	9.14e-7	314

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000584	0.0000584
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded.
• Pathway: Estrogen signaling pathway - Homo sapiens (human);Androgen Receptor Network in Prostate Cancer;Farnesoid X Receptor Pathway;Nuclear Receptors Meta-Pathway;MECP2 and Associated Rett Syndrome;Signal Transduction;HSP90 chaperone cycle for steroid hormone receptors (SHR);Cellular responses to stress;Cellular responses to external stimuli;Glucocorticoid receptor regulatory network;Signaling by Nuclear Receptors;TNFalpha;ESR-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.0951

Intolerance Scores

• loftool: 0.0822
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.567
• hipred: Y
• hipred_score: 0.654
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.868

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fkbp5
• Phenotype: renal/urinary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein peptidyl-prolyl isomerization;protein folding;response to bacterium;chaperone-mediated protein folding
• Cellular component: nucleoplasm;cytoplasm;cytosol;membrane;extracellular exosome
• Molecular function: peptidyl-prolyl cis-trans isomerase activity;protein binding;FK506 binding;heat shock protein binding