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FKBP6 FKBP prolyl isomerase family member 6 (inactive) [ Homo sapiens (human) ]

Gene ID: 8468, updated on 9-Jun-2025
Official Symbol
FKBP6provided by HGNC
Official Full Name
FKBP prolyl isomerase family member 6 (inactive)provided by HGNC
Primary source
HGNC:HGNC:3722
See related
Ensembl:ENSG00000077800 MIM:604839; AllianceGenome:HGNC:3722
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
FKBP36; SPGF77
Summary
The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Restricted expression toward testis (RPKM 29.4) See more
Orthologs
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See FKBP6 in Genome Data Viewer
Location:
7q11.23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73328161..73358625)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74528332..74558802)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72742164..72772634)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72732543-72733436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72733437-72734329 Neighboring gene NOP2/Sun RNA methyltransferase 5 Neighboring gene ribosomal protein L7a pseudogene 77 Neighboring gene tripartite motif containing 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72756115-72757059 Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72809718-72810218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72810219-72810719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72842892-72843613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72847927-72848800 Neighboring gene Sharpr-MPRA regulatory region 10074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72856950-72857920 Neighboring gene frizzled class receptor 9 Neighboring gene bromodomain adjacent to zinc finger domain 1B Neighboring gene RNA, U6 small nuclear 1198, pseudogene

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Spermatogenic failure 77
MedGen: C5774245 OMIM: 620103 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog

Replication interactions

Interaction Pubs
Knockdown of FK506 binding protein 6, 36kDa (FKBP6) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC87179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FK506 binding TAS
Traceable Author Statement
more info
PubMed 
enables Hsp90 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables Hsp90 protein binding IEA
Inferred from Electronic Annotation
more info
 
enables Hsp90 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables peptidyl-prolyl cis-trans isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in piRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in piRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in piRNA processing ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of viral genome replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein folding IEA
Inferred from Electronic Annotation
more info
 
involved_in protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein folding TAS
Traceable Author Statement
more info
PubMed 
involved_in regulatory ncRNA-mediated gene silencing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulatory ncRNA-mediated gene silencing ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transposable element silencing by piRNA-mediated DNA methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in transposable element silencing by piRNA-mediated DNA methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 
located_in synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
inactive peptidyl-prolyl cis-trans isomerase FKBP6
Names
36 kDa FKBP
FK506 binding protein 6, 36kDa
FK506-binding protein 6
FKBP prolyl isomerase 6
PPIase FKBP6
immunophilin FKBP36
inactive PPIase FKBP6
peptidyl-prolyl cis-trans isomerase FKBP6
rotamase
NP_001128683.1
NP_001268233.1
NP_001349718.1
NP_003593.3
XP_047276940.1
XP_047276941.1
XP_047276942.1
XP_054215237.1
XP_054215238.1
XP_054215239.1

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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

  1. NG_023242.2 RefSeqGene

    Range
    5006..35470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135211.3NP_001128683.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform b

    See identical proteins and their annotated locations for NP_001128683.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AA909474, AC211540, AK302121, BI461016
    Consensus CDS
    CCDS47604.1
    UniProtKB/Swiss-Prot
    O75344
    Related
    ENSP00000416277.2, ENST00000431982.6
    Conserved Domains (3) summary
    COG0457
    Location:159310
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:216242
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:46135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. NM_001281304.2NP_001268233.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform c

    See identical proteins and their annotated locations for NP_001268233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AA909474, AC211540, AF447060, AK302121, DB450796
    Consensus CDS
    CCDS64670.1
    UniProtKB/Swiss-Prot
    O75344
    Related
    ENSP00000394952.2, ENST00000413573.6
    Conserved Domains (3) summary
    COG0457
    Location:134285
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:191218
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:62110
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  3. NM_001362789.2NP_001349718.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform d

    Status: REVIEWED

    Source sequence(s)
    AA909474, AC211540, AK302121, BG704958, BI461017, DC397811
    UniProtKB/TrEMBL
    C9JM01
    Related
    ENSP00000402360.1, ENST00000442793.5
    Conserved Domains (2) summary
    sd00006
    Location:176202
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:46135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. NM_003602.5NP_003593.3  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform a

    See identical proteins and their annotated locations for NP_003593.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC211540, BC036817, DB450796
    Consensus CDS
    CCDS43595.1
    UniProtKB/Swiss-Prot
    B4DXT7, G3V0I2, O75344, Q7Z4T4, Q9UDS0
    Related
    ENSP00000252037.4, ENST00000252037.5
    Conserved Domains (3) summary
    COG0457
    Location:164315
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:221247
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:51140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    73328161..73358625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420984.1XP_047276940.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

  2. XM_047420985.1XP_047276941.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2

    UniProtKB/TrEMBL
    C9JM01
  3. XM_047420986.1XP_047276942.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IST2
    Related
    ENSP00000497448.1, ENST00000648538.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74528332..74558802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359262.1XP_054215237.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

  2. XM_054359263.1XP_054215238.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2

    UniProtKB/TrEMBL
    C9JM01
  3. XM_054359264.1XP_054215239.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IST2