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.

• not_specified (48 variants)
• not_provided (2 variants)
• Marfanoid_habitus_and_intellectual_disability (1 variants)

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. These statistics are base on transcript: NM_000012181.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			47	1		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	48	3	0

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
		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

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

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