FKBP14 FKBP prolyl isomerase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FKBP14provided by HGNC
Official Full Name: FKBP prolyl isomerase 14provided by HGNC
Primary source: HGNC:HGNC:18625
See related: Ensembl:ENSG00000106080 MIM:614505; AllianceGenome:HGNC:18625
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EDSKMH; FKBP22; IPBP12; EDSKSCL2
Summary: The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
Expression: Ubiquitous expression in endometrium (RPKM 5.0), urinary bladder (RPKM 4.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (30005923..30026702, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (30143627..30164384, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (30050203..30066318, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
Title: Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Title: Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
Title: A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
Title: Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Title: The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.
Title: Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
FKBP14 may act as an oncogene through suppressing apoptosis and promoting motility in human cervical carcinogenesis.
Title: Inhibitory effects of FKBP14 on human cervical cancer cells.
Genetic studies showed that the patient harboured a homozygous mutation (c.362dupC p.Glu122Argfs*7) in the FKBP14 gene, confirming kyphoscoliotic EDS related to this gene.
Title: Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
FKBP14 may act as an oncogene in osteosarcoma via suppressing apoptosis and promoting invasion and adhesion in osteosarcoma carcinogenesis
Title: FKBP14 overexpression contributes to osteosarcoma carcinogenesis and indicates poor survival outcome.
this report describes a potentially life-threatening vascular complication in early pediatric age and atlantoaxial instability, suggesting the need for FKBP14-related EDS patients of tailored follow-up that includes cardiovascular monitoring, that is, cerebral, thoracic and abdominal MRA, and cervical dynamic radiograph.
Title: Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MedGen: C3281160 OMIM: 614557 GeneReviews: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

L17705 (e-PCR)
- UniSTS:66091

RH71181 (e-PCR)
- UniSTS:14660

D1S1423 (e-PCR)
- UniSTS:149619

G35510 (e-PCR)
- UniSTS:44150

D17S610 (e-PCR)
- UniSTS:46230

RH65031 (e-PCR)
- UniSTS:80803

L17971 (e-PCR)
- UniSTS:43966

STS-T76997 (e-PCR)
- UniSTS:57556

GDB:3754616 (e-PCR)
- UniSTS:69601

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP14

Names: 22 kDa FK506-binding protein; 22 kDa FKBP; FK506 binding protein 14, 22 kDa; FK506-binding protein 14; FKBP-22; PPIase FKBP14; rotamase

NP_060416.1

EC 5.2.1.8

XP_047276506.1

EC 5.2.1.8

XP_054214513.1

EC 5.2.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032173.1 RefSeqGene

Range

5001..21219

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_454

mRNA and Protein(s)

NM_017946.4 → NP_060416.1 peptidyl-prolyl cis-trans isomerase FKBP14 precursor

See identical proteins and their annotated locations for NP_060416.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC007285, AK000738, CR748502, DA166879

Consensus CDS

CCDS5423.1

UniProtKB/Swiss-Prot

Q9NWM8

UniProtKB/TrEMBL

A0A090N7V8

Related

ENSP00000222803.5, ENST00000222803.10

Conserved Domains (2) summary

COG0545
Location:43 → 135

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

pfam13499
Location:141 → 204

EF-hand_7; EF-hand domain pair

RNA

NR_046478.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.

Source sequence(s)

AC007285, AK000738, AK309552, CR748502, DA166879, DB498479
NR_046479.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.

Source sequence(s)

AC007285, AK000738, AK309552, CR748502, DA166879