PRDM4 Gene: PR Domain Zinc Finger Protein 4

Transcriptional regulator involved in cell differentiation and cancer

Gene Information Card

Symbol PRDM4
Full Name PR/SET domain 4
Gene Type protein-coding
Chromosomal Location 12q23.3
NCBI Gene ID 11108 ncbi.nlm.nih.gov/gene/11108
Ensembl ID ENSG00000110848
UniProt ID Q9UKN5
OMIM ID 605731
HGNC ID 9348
Aliases PFM1, PR domain zinc finger protein 4

Description

PRDM4 (PR/SET domain 4) encodes a member of the PR domain family of transcriptional regulators. The protein contains an N-terminal PR domain (related to SET methyltransferase domains) and multiple C-terminal zinc finger motifs. PRDM4 functions as a transcription factor involved in cell differentiation, proliferation, and apoptosis. It is implicated in neurogenesis and cancer, where it may act as a tumor suppressor or oncogene depending on context.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer PRDM4 expression is altered in breast tumors; may regulate cell cycle genes PMID: 23455423
Colorectal cancer PRDM4 methylation and reduced expression linked to tumor progression PMID: 25656847
Neuroblastoma PRDM4 promotes differentiation of neural progenitor cells PMID: 21558396

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Liver 6.1 Low
Lung 9.7 Low
Kidney 7.4 Low
Testis 15.2 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.5 Embryonic kidney cells
HeLa 8.9 Cervical cancer cells
SH-SY5Y 14.2 Neuroblastoma cells
MCF7 7.3 Breast cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T missense 0.01% p.Arg412Trp; unknown functional impact
c.567_568del frameshift <0.01% Loss of function; truncation
c.890A>G missense 0.02% p.Asn297Ser; possibly benign
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations predicted to cause loss of PRDM4 transcriptional activity.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

Not documented.

Pathways

Notch signaling pathway
p53 signaling pathway
Transcriptional misregulation in cancer

Protein Summary

PRDM4 is a 745-amino acid nuclear protein with a PR domain and six C2H2-type zinc fingers. It binds DNA and regulates transcription of genes involved in cell cycle and differentiation. The PR domain may mediate protein-protein interactions and chromatin remodeling. PRDM4 is expressed in multiple tissues, with highest levels in brain and testis. It interacts with proteins such as p53 and HDACs, influencing apoptosis and neurogenesis.

Related Products

Product name Cat.No. Species Gene ID
PRDM4 Knockout HEK293 Cell Line EDJ-KQ7288 Human 11108 Details Get a Quote
PRDM4 Knockout A-549 Cell Line EDJ-KQ32325 Human 11108 Details Get a Quote
PRDM4 Knockout HCT 116 Cell Line EDJ-KQ32326 Human 11108 Details Get a Quote
PRDM4 Knockout HeLa Cell Line EDJ-KQ32327 Human 11108 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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