PFDN2 prefoldin subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFDN2provided by HGNC
Official Full Name: prefoldin subunit 2provided by HGNC
Primary source: HGNC:HGNC:8867
See related: Ensembl:ENSG00000143256 MIM:613466; AllianceGenome:HGNC:8867
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: PFD2
Summary: This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 33.7), brain (RPKM 30.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161100561..161118037, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160238042..160255506, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161070351..161087827, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

prefoldin is amplified at 1q23.3-q24.1 in bladder cancer
Title: Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA.
knockdown of PFD2 and PFD5 disrupted prefoldin formation in HTT-expressing cells, resulting in accumulation of aggregates of a pathogenic form of HTT and in induction of cell death.
Title: Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation.
Is part of an RNA polymerase II-associated complex with possible chaperone activity.
Title: High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15774 (e-PCR)
- UniSTS:17214

G32219 (e-PCR)
- UniSTS:116825

D1S2071E (e-PCR)
- UniSTS:151660

A005B35 (e-PCR)
- UniSTS:21618

D1S3274 (e-PCR)
- UniSTS:52110

PMC21147P2 (e-PCR)
- UniSTS:272016

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables protein folding chaperone	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RPAP3/R2TP/prefoldin-like complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of prefoldin complex	IDA Inferred from Direct Assay more info	PubMed
part_of prefoldin complex	IEA Inferred from Electronic Annotation more info
part_of prefoldin complex	NAS Non-traceable Author Statement more info	PubMed
part_of protein folding chaperone complex	NAS Non-traceable Author Statement more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: prefoldin subunit 2

Names: prefoldin 2

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)

NM_012394.4 → NP_036526.2 prefoldin subunit 2

Status: REVIEWED

Source sequence(s)

AF165883, BC012464

Consensus CDS

CCDS1217.1

UniProtKB/Swiss-Prot

Q9P0P7, Q9UHV9, Q9UN05

UniProtKB/TrEMBL

B1AQP2

Related

ENSP00000356989.3, ENST00000368010.4

Conserved Domains (1) summary

pfam01920
Location:27 → 128

Prefoldin_2; Prefoldin subunit

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

161100561..161118037 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509624.4 → XP_011507926.1 prefoldin subunit 2 isoform X1

UniProtKB/Swiss-Prot

Q9UHV9

Conserved Domains (1) summary

pfam01920
Location:1 → 80

Prefoldin_2; Prefoldin subunit