Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 390245
Gene name Lysine demethylase 4E
Gene symbol KDM4E
Synonyms (NCBI Gene)
JMJD2EKDM4DLKDM5E
Chromosome 11
Chromosome location 11q21
Summary The protein encoded by this intronless gene is a member of a large family of histone lysine demethylases, which use oxygen and 2-oxoglutarate to demethylate di- and trimethylated lys9 of histone H3. Derepression of genes by demethylases is sometimes invol
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14 Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21914792
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616581 37098 ENSG00000235268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B2RXH2
Protein name Lysine-specific demethylase 4E (EC 1.14.11.66) (KDM4D-like protein) (Lysine-specific demethylase 4D-like) ([histone H3]-trimethyl-L-lysine(9) demethylase 4E)
Protein function Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code.
PDB 2W2I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02373 JmjC 176 → 292 JmjC domain, hydroxylase Domain
PF02375 JmjN 16 → 50 jmjN domain Family
Sequence
MKSVHSSPQNTSHTIMTFYPTMEEFADFNTYVAYMESQGAHQAGLAKVIPPKEWKARQMY
DDIEDILIATPLQQVTSGQGGVFTQYHKKKKAMRVGQYRRLANSKKYQTPPHQNFADLEQ
RYWKSHPGNPPIYGADISGSLFEESTKQWNLGHLGTILDLLEQECGVVIEGVNTPYLYFG
MWKTTFAWHTEDMDLYSINYLHFGEPKTWYVVPPEHGQHLERLARELFPDISRGCEAFLR
HKVALISPTVLKENGIPFNCMTQEAGEFMVTFPYGYHAGFNHGFNCAEAINF
ATPRWIDY
GKMASQCSCGESTVTFSMDPFVRIVQPESYELWKHRQDLAIVEHTEPRVAESQELSNWRD
DIVLRRAALGLRLLPNLTAQCPTQPVSSGHCYNPKGCGTDAVPGSAFQSSAYHTQTQSLT
LGMSARVLLPSTGSWGSGRGRGRGQGQGRGCSRGRGHGCCTRELGTEEPTVQPASKRRLL
MGTRSRAQGHRPQLPLANDLMTNLSL
Sequence length 506
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Breast ductal adenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 30377206 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only