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FKBP2 FKBP prolyl isomerase 2 [ Homo sapiens (human) ]

Gene ID: 2286, updated on 5-Mar-2024

Summary

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Official Symbol
FKBP2provided by HGNC
Official Full Name
FKBP prolyl isomerase 2provided by HGNC
Primary source
HGNC:HGNC:3718
See related
Ensembl:ENSG00000173486 MIM:186946; AllianceGenome:HGNC:3718
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
FKBP13; PPIase; FKBP-13
Summary
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
Expression
Ubiquitous expression in kidney (RPKM 33.5), thyroid (RPKM 33.5) and 25 other tissues See more
Orthologs
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Genomic context

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See FKBP2 in Genome Data Viewer
Location:
11q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64241095..64244135)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64231119..64234159)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64008567..64011607)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3467 Neighboring gene vascular endothelial growth factor B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64007574-64008476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64008477-64009377 Neighboring gene Uncharacterized protein LOC114841035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64010280-64011180 Neighboring gene PPP1R14B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3470 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64015853-64016500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64016501-64017146 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64017147-64017794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64019089-64019734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64019735-64020381 Neighboring gene phospholipase C beta 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4893

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Localization of the FK506-binding protein, FKBP 13, to the lumen of the endoplasmic reticulum. Nigam SK, et al. Biochem J, 1993 Sep 1. PMID 8373365, Free PMC Article
  2. Induction of the FK506-binding protein, FKBP13, under conditions which misfold proteins in the endoplasmic reticulum. Bush KT, et al. Biochem J, 1994 Nov 1. PMID 7526846, Free PMC Article
  3. The FK506 binding protein 13 kDa (FKBP13) interacts with the C-chain of complement C1q. Neye H, et al. BMC Pharmacol, 2004 Sep 7. PMID 15353007, Free PMC Article
  4. Molecular cloning of a membrane-associated human FK506- and rapamycin-binding protein, FKBP-13. Jin YJ, et al. Proc Natl Acad Sci U S A, 1991 Aug 1. PMID 1713687, Free PMC Article
  5. Chromosomal band assignments of the genes encoding human FKBP12 and FKBP13. DiLella AG, et al. Biochem Biophys Res Commun, 1992 Dec 15. PMID 1281998

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate.
    Title: Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  4. FKBP13 and FK506 have roles in vesicular trafficking, influencing ADP-ribosylation factor activity through their guanine nucleotide-exchange proteins
    Title: Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FK506 binding TAS
Traceable Author Statement
more info
 PubMed 
enables peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein folding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP2
Names
13 kDa FK506-binding protein
13 kDa FKBP
FK506 binding protein 2, 13kDa
FK506-binding protein 2
PPIase FKBP2
epididymis secretory sperm binding protein
immunophilin FKBP13
proline isomerase
rapamycin-binding protein
rotamase
NP_001128680.1
NP_001357289.1
NP_001357291.1
NP_001357292.1
NP_001357294.1
NP_001357296.1
NP_004461.2
NP_476433.1

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.

mRNA and Protein(s)

  1. NM_001135208.2 → NP_001128680.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001128680.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform.
    Source sequence(s)
    AP001453
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Related
    ENSP00000398147.2, ENST00000449942.6
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. NM_001370360.1 → NP_001357289.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001453
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  3. NM_001370362.1 → NP_001357291.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001453, BC091475, HY148079
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  4. NM_001370363.1 → NP_001357292.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001453
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  5. NM_001370365.1 → NP_001357294.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP001453
    Consensus CDS
    CCDS91499.1
    UniProtKB/TrEMBL
    A0A384NLA0, A0A494C1N0
    Related
    ENSP00000499135.1, ENST00000652094.1
    Conserved Domains (1) summary
    pfam00254
    Location:71 → 163
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  6. NM_001370367.1 → NP_001357296.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001453, HY077188
    Conserved Domains (1) summary
    pfam00254
    Location:1 → 81
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  7. NM_004470.4 → NP_004461.2  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004461.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 6 variants encode the same isoform.
    Source sequence(s)
    AP001453
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Related
    ENSP00000310935.4, ENST00000309366.9
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  8. NM_057092.2 → NP_476433.1  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_476433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform.
    Source sequence(s)
    AW450265, BC003384
    Consensus CDS
    CCDS8063.1
    UniProtKB/Swiss-Prot
    P26885, Q5BJH9, Q9BTS7
    UniProtKB/TrEMBL
    A0A384NLA0, Q53XJ5
    Conserved Domains (1) summary
    pfam00254
    Location:42 → 134
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64241095..64244135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64231119..64234159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26885.2 GenPept UniProtKB/Swiss-Prot:P26885

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