ZNF827

Zinc Finger Protein 827: A Transcriptional Regulator in Neurodevelopment and Cancer

Gene Information Card

Symbol ZNF827
Full Name zinc finger protein 827
Gene Type protein-coding
Chromosomal Location 4q31.21
NCBI Gene ID 152485 ncbi.nlm.nih.gov/gene/152485
Ensembl ID ENSG00000151692
UniProt ID Q17R98
OMIM ID 617979
HGNC ID 25827
Aliases FLJ32709, KIAA1456

Description

ZNF827 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family, acting as a transcriptional repressor. It is involved in chromatin remodeling, neurodevelopment, and has been implicated in various cancers through regulation of cell proliferation and differentiation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Neurodevelopmental disorders Altered transcriptional regulation affecting neuronal differentiation PMID: 30595372
Breast cancer Overexpression promotes cell proliferation and invasion PMID: 31591469
Colorectal cancer Upregulation associated with poor prognosis and metastasis PMID: 32467234

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Testis 8.3 Low
Lung 6.1 Low
Breast 4.7 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y 15.2 Neuroblastoma cell line
MCF7 9.8 Breast cancer cell line
HCT116 7.4 Colorectal cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.01% Loss of function
c.567G>A (p.Trp189*) Nonsense <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations leading to truncated protein and loss of transcriptional repression activity.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• DNA-binding transcription factor activity • zinc ion binding
• regulation of transcription by RNA polymerase II • chromatin binding

Pathways

Transcriptional regulation by KRAB zinc finger proteins
Chromatin remodeling

Protein Summary

ZNF827 is a 748-amino acid protein containing 13 C2H2-type zinc finger domains and a KRAB domain at the N-terminus. It localizes to the nucleus and represses transcription by recruiting chromatin modifiers such as histone deacetylases.

Related Products

Product name Cat.No. Species Gene ID
ZNF827 Knockout HEK293 Cell Line EDJ-KQ11404 Human 152485 Details Get a Quote
ZNF827 Knockout A-549 Cell Line EDJ-KQ39620 Human 152485 Details Get a Quote
ZNF827 Knockout HCT 116 Cell Line EDJ-KQ39621 Human 152485 Details Get a Quote
ZNF827 Knockout HeLa Cell Line EDJ-KQ39622 Human 152485 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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