fkbp14

ID

ZDB-GENE-040801-210

Name

FKBP prolyl isomerase 14

Symbol

fkbp14 Nomenclature History

Previous Names

fd36a03
wu:fd36a03
zgc:91851

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable RNA polymerase II CTD heptapeptide repeat P3 isomerase activity; RNA polymerase II CTD heptapeptide repeat P6 isomerase activity; and calcium ion binding activity. Predicted to be located in endoplasmic reticulum. Is expressed in notochord. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome kyphoscoliotic type 2. Orthologous to human FKBP14 (FKBP prolyl isomerase 14).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6906378 (2 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With fkbp14 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Ehlers-Danlos syndrome kyphoscoliotic type 2	Alliance	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	614557

Associated With fkbp14 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Domain	IPR001179	FKBP-type peptidyl-prolyl cis-trans isomerase domain
Domain	IPR002048	EF-hand domain
Family	IPR052273	Peptidyl-prolyl cis-trans isomerase FKBP
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR046357	Peptidyl-prolyl cis-trans isomerase domain superfamily