1. Gene
  2. FKBP4 - FKBP prolyl isomerase 4 Gene

FKBP4 - FKBP prolyl isomerase 4 Gene

Homo sapiens

Also known as HBI; p52; Hsp56; FKBP51; FKBP52; FKBP59; PPIase

Gene ID: 2288 | Gene type: protein coding

About FKBP4

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:2,794,970-2,805,423 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 24.9), kidney (RPKM 21.3) and 25 other tissues.

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 to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (HSP90 and HSP70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]

FKBP4 Products(1)

mRNA Protein Name
NM_002014.4 NP_002005.1 peptidyl-prolyl cis-trans isomerase FKBP4
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables heat shock protein binding IPI
IPI: Inferred from physical interaction
9660753 GOA
enables peptidyl-prolyl cis-trans isomerase activity IDA
IDA: Inferred from direct assay
11350175 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11583998 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chaperone-mediated protein folding IDA
IDA: Inferred from direct assay
11350175 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKBP4 Protein Structure

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (45 - 134)

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (162 - 249)

TPR_1

TPR_1: Tetratricopeptide repeat (275 - 295)

TPR_11

TPR_11: TPR repeat (321 - 384)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
Protein Preferred Names Protein Names

peptidyl-prolyl cis-trans isomerase FKBP4

FK506 binding protein 4, 59kDa

Recombinant FKBP4 Proteins

Cat. No. Product Name Accession Purity
HY-P70405 FKBP4 Protein, Human (His) Q02790 (M1-A459) ≥95%

Related Diseases

Diseases Alias
Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Paralytic Lagophthalmos
Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Sulfhemoglobinemia
Hypospadias

Hypospadias Familial

Familial Hypospadias

Facial Paralysis

Facial Palsy

Bell Palsy

Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve

Bell'S Palsy

Bell Palsy

Facial Nerve Palsy

Facial Palsy

Facial Paralysis

Bell'S Palsy

Antoni'S Palsy

Facial Cranial Nerve Paralysis

Idiopathic Facial Palsy

Refrigeration Palsy

Facial Nerve Paralysis

Seventh Cranial Nerve Paralysis

Face Paralysis Nos

Non-Suppurative Otitis Media

Nonsuppurative Otitis Media

Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle

Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve

Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]

Skin Atrophy

Atrophic Condition Of Skin

Atrophoderma

Atrophy - Skin

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FKBP4 RGD RGD:628729
Mus musculus FKBP4 MGD MGI:95543
Macaca mulatta FKBP4 VGNC VGNC:72664
Felis catus FKBP4 VGNC VGNC:62280
Bos taurus FKBP4 VGNC VGNC:29023
Canis familiaris FKBP4 VGNC VGNC:40890
Others FKBP4 NCBI