FKBP8

FKBP prolyl isomerase 8, the group of FKBP prolyl isomerases|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 19:18531751-18544077

Links

ENSG00000105701 ∙ NCBI:23770 ∙ OMIM:604840 ∙ HGNC:3724 ∙ Uniprot:Q14318 ∙ 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 FKBP8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP8 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	0

Variants in FKBP8

This is a list of pathogenic ClinVar variants found in the FKBP8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-18532219-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-18532711-C-T		not specified	Uncertain significance (Sep 27, 2024)
19-18532743-C-T		not specified	Uncertain significance (Aug 17, 2021)
19-18532746-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-18532749-T-C		not specified	Uncertain significance (Nov 26, 2024)
19-18532758-T-C		not specified	Uncertain significance (Mar 22, 2023)
19-18532786-C-T		not specified	Uncertain significance (Apr 20, 2024)
19-18537678-G-A		not specified	Uncertain significance (Dec 04, 2024)
19-18537750-C-T		not specified	Uncertain significance (Nov 17, 2022)
19-18538222-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-18538228-A-T		not specified	Uncertain significance (Sep 20, 2023)
19-18538264-C-T		Marfanoid habitus and intellectual disability	Uncertain significance (-)
19-18538356-T-G		not specified	Uncertain significance (Oct 26, 2022)
19-18538374-A-G		not specified	Uncertain significance (Dec 22, 2023)
19-18538380-G-A		not specified	Uncertain significance (Oct 18, 2021)
19-18538425-T-C		not specified	Uncertain significance (Jan 19, 2025)
19-18539414-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-18539419-G-A		not specified	Uncertain significance (Jun 16, 2024)
19-18539429-C-T		not specified	Uncertain significance (Dec 21, 2021)
19-18539435-T-C		not specified	Uncertain significance (Jan 03, 2025)
19-18539607-G-A		not specified	Uncertain significance (May 31, 2023)
19-18539634-G-C		not specified	Uncertain significance (Dec 27, 2023)
19-18539666-C-T		not specified	Uncertain significance (Aug 03, 2021)
19-18539667-G-A		not specified	Uncertain significance (Feb 06, 2025)
19-18539672-G-A		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FKBP8	protein_coding	protein_coding	ENST00000608443	8	12327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00175	125715	0	2	125717	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.33	166	275	0.605	0.0000186	2642
Missense in Polyphen		23	69.368	0.33156		758
Synonymous	-0.207	132	129	1.02	0.00000989	868
Loss of Function	3.99	0	18.5	0.00	8.76e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. {ECO:0000269|PubMed:12510191, ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.
• Pathway: Senescence and Autophagy in Cancer;Post-translational protein modification;Metabolism of proteins;insulin Mam;Ub-specific processing proteases;Deubiquitination;Role of Calcineurin-dependent NFAT signaling in lymphocytes (Consensus)

Recessive Scores

• pRec: 0.162

Intolerance Scores

• loftool: 0.0296
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.72

Haploinsufficiency Scores

• pHI: 0.148
• hipred: Y
• hipred_score: 0.783
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.937

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fkbp8
• Phenotype: growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; embryo 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); vision/eye phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype

Gene ontology

• Biological process: protein peptidyl-prolyl isomerization;cell fate specification;negative regulation of protein phosphorylation;apoptotic process;smoothened signaling pathway;viral process;dorsal/ventral neural tube patterning;positive regulation of BMP signaling pathway;multicellular organism growth;intracellular signal transduction;camera-type eye development;negative regulation of apoptotic process
• Cellular component: mitochondrion;endoplasmic reticulum;cytosol;membrane;integral component of endoplasmic reticulum membrane;mitochondrial membrane;protein-containing complex
• Molecular function: peptidyl-prolyl cis-trans isomerase activity;protein binding;identical protein binding;metal ion binding;disordered domain specific binding