PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010] See more...

Aliases for PFDN6 Gene

Aliases for PFDN6 Gene

  • Prefoldin Subunit 6 2 3 4 5
  • HLA Class II Region Expressed Gene KE2 2 3
  • HKE2 3 4
  • PFD6 3 4
  • KE2 Protein 3
  • Protein Ke2 4
  • Prefoldin 6 2
  • H2-KE2 3
  • KE-2 3

External Ids for PFDN6 Gene

Previous HGNC Symbols for PFDN6 Gene

  • HKE2

Previous GeneCards Identifiers for PFDN6 Gene

  • GC06P033366
  • GC06P033257
  • GC06P032999

Summaries for PFDN6 Gene

Entrez Gene Summary for PFDN6 Gene

  • PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]

GeneCards Summary for PFDN6 Gene

PFDN6 (Prefoldin Subunit 6) is a Protein Coding gene. Diseases associated with PFDN6 include Corneal Deposit and Corneal Dystrophy. Among its related pathways are Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and chaperone binding.

UniProtKB/Swiss-Prot Summary for PFDN6 Gene

  • Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.

Gene Wiki entry for PFDN6 Gene

Additional gene information for PFDN6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFDN6 Gene

Genomics for PFDN6 Gene

GeneHancer (GH) Regulatory Elements for PFDN6 Gene

Promoters and enhancers for PFDN6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J033287 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 215 3.1 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 USF1 POLR2G NCOR1 SIX5 ZNF639 WDR46 MIR6834 PFDN6 TAPBP ZBTB22 KIFC1 PHF1 RPL35AP4 CUTA SYNGAP1
GH06J033311 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +29.0 28999 13.4 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 DAXX TAPBP ZBTB22 VPS52 WDR46 RPS18 LEMD2 BRD2 RGL2 SLC39A7
GH06J033341 Enhancer 1.2 FANTOM5 ENCODE 12.1 +54.7 54670 4 CTCF NRF1 ZIC2 AFF1 ZBTB26 REST HES1 KLF7 ZNF740 MYC piR-57133-513 DAXX TAPBP WDR46 PHF1 KIFC1 BRD2 LEMD2 RGL2 ZBTB22
GH06J033373 Enhancer 0.9 ENCODE 10.6 +86.2 86172 3.1 ZBTB5 ZBTB10 REST CTBP1 TRIM25 HINFP HDAC3 NCOR1 RELA CEBPB DAXX PHF1 ZBTB22 TAPBP RGL2 PFDN6 WDR46 ZBTB9 RF00017-5433 LYPLA2P1
GH06J033380 Enhancer 0.8 Ensembl 10.6 +91.4 91399 0.2 ZBTB11 AFF1 TOE1 CTBP1 NCOR1 ARNT TRIM28 TBP KLF13 SKIL RF00017-5433 PHF1 ZBTB22 TAPBP RGL2 WDR46 PFDN6 ZBTB9 RPL35AP4 RF00017-5432
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFDN6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFDN6

Top Transcription factor binding sites by QIAGEN in the PFDN6 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CUTL1
  • HNF-4alpha2
  • Olf-1
  • p53
  • Sp1
  • SREBP-1a

Genomic Locations for PFDN6 Gene

Genomic Locations for PFDN6 Gene
chr6:33,289,302-33,298,401
(GRCh38/hg38)
Size:
9,100 bases
Orientation:
Plus strand
chr6:33,257,079-33,266,178
(GRCh37/hg19)
Size:
9,100 bases
Orientation:
Plus strand

Genomic View for PFDN6 Gene

Genes around PFDN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFDN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFDN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFDN6 Gene

Proteins for PFDN6 Gene

  • Protein details for PFDN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15212-PFD6_HUMAN
    Recommended name:
    Prefoldin subunit 6
    Protein Accession:
    O15212

    Protein attributes for PFDN6 Gene

    Size:
    129 amino acids
    Molecular mass:
    14583 Da
    Quaternary structure:
    • Heterohexamer of two PFD-alpha type and four PFD-beta type subunits.

    Three dimensional structures from OCA and Proteopedia for PFDN6 Gene

neXtProt entry for PFDN6 Gene

Post-translational modifications for PFDN6 Gene

  • Ubiquitination at Lys15, Lys66, and Lys88
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PFDN6 Gene

Domains & Families for PFDN6 Gene

Gene Families for PFDN6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PFDN6 Gene

Blocks:
  • Prefoldin-related KE2 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PFDN6 Gene

GenScript: Design optimal peptide antigens:
  • Protein Ke2 (PFD6_HUMAN)
  • cDNA, FLJ92435, Homo sapiens HLA class II region expressed gene KE2 (HKE2), mRNA (Q5STK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15212

UniProtKB/Swiss-Prot:

PFD6_HUMAN :
  • Belongs to the prefoldin subunit beta family.
Family:
  • Belongs to the prefoldin subunit beta family.
genes like me logo Genes that share domains with PFDN6: view

Function for PFDN6 Gene

Molecular function for PFDN6 Gene

UniProtKB/Swiss-Prot Function:
Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.

Phenotypes From GWAS Catalog for PFDN6 Gene

Gene Ontology (GO) - Molecular Function for PFDN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding NAS 9630229
GO:0051087 chaperone binding IDA,IBA 9630229
genes like me logo Genes that share ontologies with PFDN6: view
genes like me logo Genes that share phenotypes with PFDN6: view

Animal Models for PFDN6 Gene

MGI Knock Outs for PFDN6:
  • Pfdn6 Pfdn6<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for PFDN6 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFDN6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PFDN6 Gene

Localization for PFDN6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFDN6 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PFDN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0016272 prefoldin complex IDA,IBA 9630229
genes like me logo Genes that share ontologies with PFDN6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PFDN6 Gene

Pathways & Interactions for PFDN6 Gene

genes like me logo Genes that share pathways with PFDN6: view

Gene Ontology (GO) - Biological Process for PFDN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA,NAS 9630229
GO:0051131 chaperone-mediated protein complex assembly IBA,IDA 9630229
genes like me logo Genes that share ontologies with PFDN6: view

No data available for SIGNOR curated interactions for PFDN6 Gene

Drugs & Compounds for PFDN6 Gene

No Compound Related Data Available

Transcripts for PFDN6 Gene

mRNA/cDNA for PFDN6 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFDN6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFDN6 Gene

No ASD Table

Relevant External Links for PFDN6 Gene

GeneLoc Exon Structure for
PFDN6

Expression for PFDN6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFDN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PFDN6 Gene

This gene is overexpressed in Fetal Brain (13.9) and Peripheral blood mononuclear cells (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PFDN6 Gene



Protein tissue co-expression partners for PFDN6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFDN6

SOURCE GeneReport for Unigene cluster for PFDN6 Gene:

Hs.446374

Evidence on tissue expression from TISSUES for PFDN6 Gene

  • Pancreas(4.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PFDN6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFDN6 Gene

Orthologs for PFDN6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFDN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFDN6 31 30
  • 99.74 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFDN6 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFDN6 31 30
  • 93.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFDN6 31 30
  • 90.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2-Ke2 31 30
  • 90.48 (n)
OneToOne
Pfdn6 17
rat
(Rattus norvegicus)
Mammalia Pfdn6 30
  • 90.48 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pfdn6 30
  • 67.23 (n)
zebrafish
(Danio rerio)
Actinopterygii pfdn6 31 30
  • 68.63 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7770 31 30
  • 53.57 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012235 30
  • 53.39 (n)
worm
(Caenorhabditis elegans)
Secernentea pfd-6 31
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE2 33 33 31
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PFD6 30
  • 50.14 (n)
rice
(Oryza sativa)
Liliopsida Os02g0246300 30
  • 50.14 (n)
Species where no ortholog for PFDN6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFDN6 Gene

ENSEMBL:
Gene Tree for PFDN6 (if available)
TreeFam:
Gene Tree for PFDN6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFDN6: view image

Paralogs for PFDN6 Gene

(1) SIMAP similar genes for PFDN6 Gene using alignment to 3 proteins:

  • PFD6_HUMAN
  • A2AB88_HUMAN
  • Q5STK2_HUMAN
genes like me logo Genes that share paralogs with PFDN6: view

No data available for Paralogs for PFDN6 Gene

Variants for PFDN6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFDN6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
776124 Benign: not provided 33,290,842(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PFDN6 Gene

Structural Variations from Database of Genomic Variants (DGV) for PFDN6 Gene

Variant ID Type Subtype PubMed ID
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv830634 CNV loss 17160897
nsv830635 CNV loss 17160897

Variation tolerance for PFDN6 Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFDN6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFDN6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFDN6 Gene

Disorders for PFDN6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PFDN6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal deposit
  • deposits - cornea
corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search PFDN6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PFDN6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PFDN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFDN6 Gene

Publications for PFDN6 Gene

  1. TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. (PMID: 9545376) Herberg JA … Trowsdale J (Journal of molecular biology 1998) 2 3 4 54
  2. Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin. (PMID: 9630229) Vainberg IE … Cowan NJ (Cell 1998) 2 3 4 54
  3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54
  4. Characterization of HKE2: an ancient antigen encoded in the major histocompatibility complex. (PMID: 17257322) Ostrov DA … Iczkowski KA (Tissue antigens 2007) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for PFDN6 Gene

Sources for PFDN6 Gene