KDM4D

Lysine Demethylase 4D

Gene Information Card

Symbol KDM4D
Full Name Lysine Demethylase 4D
Gene Type Protein coding
Chromosomal Location 11q21
NCBI Gene ID 55693 ncbi.nlm.nih.gov/gene/55693
Ensembl ID ENSG00000166166
UniProt ID Q6B0I6
OMIM ID 609765
HGNC ID HD: 29138
Aliases JMJD2D, JHDM3D, bA145I24.1

Description

KDM4D (lysine demethylase 4D) is a gene encoding a histone demethylase that specifically demethylates histone H3 lysine 9 (H3K9me3) and H3 lysine 36 (H3K36me3), playing a key role in epigenetic regulation, chromatin remodeling, and transcriptional activation. It is involved in cell cycle progression, DNA damage response, and is implicated in various cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer Overexpression promotes androgen receptor signaling and cell proliferation PMID: 21947068
Breast cancer Upregulation correlates with poor prognosis and increased metastasis PMID: 25944712
Colorectal cancer KDM4D overexpression enhances tumor growth via H3K9me3 demethylation PMID: 27323850
Gastric cancer Elevated expression linked to tumor invasion and EMT PMID: 28692040

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 8.2 Medium
Bone marrow 6.5 Medium
Lymph node 5.1 Low
Brain 2.3 Low
Liver 1.8 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 7.4 Cervical cancer cell line
MCF7 6.9 Breast cancer cell line
LNCaP 8.1 Prostate cancer cell line
HCT116 7.8 Colorectal cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1072C>T (p.Arg358Trp) Missense <0.1% Unknown functional effect
c.1465G>A (p.Glu489Lys) Missense <0.1% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in KDM4D.

Gain of Function (GOF)

Overexpression in multiple cancers suggests potential gain-of-function role.

Dominant Negative (DN)

No dominant-negative mutations described.

Gene Ontology (GO)

• Histone H3-K9 demethylation • Histone H3-K36 demethylation
• Chromatin remodeling • Transcription coactivator activity
• Zinc ion binding

Pathways

• Epigenetic regulation of gene expression
• Chromatin organization
• DNA damage response

Protein Summary

KDM4D is a JmjC-domain-containing histone demethylase that removes methyl groups from H3K9me3 and H3K36me3, thereby activating transcription. It is involved in androgen receptor signaling, cell proliferation, and is overexpressed in several cancers, making it a potential therapeutic target.

Related Products

Product name Cat.No. Species Gene ID
KDM4D Knockout HEK293 Cell Line EDJ-KQ1044 Human 55693 Details Get a Quote
KDM4D Knockout HCT 116 Cell Line EDJ-KQ18809 Human 55693 Details Get a Quote
KDM4D Knockout HeLa Cell Line EDJ-KQ56616 Human 55693 Details Get a Quote
KDM4D Knockout A-549 Cell Line EDJ-KQ65115 Human 55693 Details Get a Quote

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